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| | TTC36 | Tetratricopeptide repeat domain 36. (189 aa) |
| | FKBP4 | Peptidyl-prolyl cis-trans isomerase FKBP4, N-terminally processed; Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May [...] (459 aa) |
| | RPAP3 | RNA polymerase II-associated protein 3; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Belongs to the RPAP3 family. (665 aa) |
| | PPP5C | Serine/threonine-protein phosphatase 5; Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT. Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses. Pa [...] (499 aa) |
| | RGPD5 | RANBP2-like and GRIP domain-containing protein 5/6; RANBP2 like and GRIP domain containing 5. (1765 aa) |
| | TTC17 | Tetratricopeptide repeat protein 17; Plays a role in primary ciliogenesis by modulating actin polymerization. (1141 aa) |
| | APPBP2 | Amyloid protein-binding protein 2; May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface. (585 aa) |
| | ST13 | Hsc70-interacting protein; One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity); Belongs to the FAM10 family. (369 aa) |
| | STUB1 | E3 ubiquitin-protein ligase CHIP; E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Me [...] (303 aa) |
| | EMC2 | ER membrane protein complex subunit 2. (297 aa) |
| | SGTA | Small glutamine-rich tetratricopeptide repeat-containing protein alpha; Co-chaperone that binds misfolded and hydrophobic patches- containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails. Functions in tail- anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module. Functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins. It is also involved i [...] (313 aa) |
| | FIS1 | Mitochondrial fission 1 protein; Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. Belongs to the FIS1 family. (152 aa) |
| | WFS1 | Wolframin; Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. (890 aa) |
| | TTC1 | Tetratricopeptide repeat domain 1. (292 aa) |
| | TTC31 | Tetratricopeptide repeat domain 31. (519 aa) |
| | RMDN2 | Regulator of microtubule dynamics 2; Belongs to the RMDN family. (573 aa) |
| | P3H1 | Prolyl 3-hydroxylase 1; Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. (804 aa) |
| | TTC21B | Tetratricopeptide repeat protein 21B; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs). Essential for retrograde trafficking of IFT- 1, IFT-B and GPCRs. Negatively modulates the SHH signal transduction (By similarity); Belongs to the TTC21 family. (1316 aa) |
| | SH3TC1 | SH3 domain and tetratricopeptide repeats 1. (1336 aa) |
| | FKBP6 | Inactive peptidyl-prolyl cis-trans isomerase FKBP6; Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be re [...] (327 aa) |
| | PTCD3 | Pentatricopeptide repeat domain-containing protein 3, mitochondrial; Mitochondrial RNA-binding protein that has a role in mitochondrial translation. (689 aa) |
| | NASP | Nuclear autoantigenic sperm protein; Required for DNA replication, normal cell cycle progression and cell proliferation. Forms a cytoplasmic complex with HSP90 and H1 linker histones and stimulates HSP90 ATPase activity. NASP and H1 histone are subsequently released from the complex and translocate to the nucleus where the histone is released for binding to DNA. (788 aa) |
| | TTC9 | Tetratricopeptide repeat domain 9; Belongs to the TTC9 family. (222 aa) |
| | TTC5 | Tetratricopeptide repeat protein 5; Adapter protein involved in p53/TP53 response that acts by regulating and mediating the assembly of multi-protein complexes. Required to facilitate the interaction between JMY and p300/EP300 and increase p53/TP53-dependent transcription and apoptosis. Prevents p53/TP53 degradation by MDM2 (By similarity). (440 aa) |
| | KLC4 | Kinesin light chain 4; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). (637 aa) |
| | RMDN3 | Regulator of microtubule dynamics protein 3; Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis; Belongs to the RMDN family. (470 aa) |
| | IFT172 | Intraflagellar transport protein 172 homolog; Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity); Belongs to the IFT172 family. (1749 aa) |
| | LRPPRC | Leucine-rich PPR motif-containing protein, mitochondrial; May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mito [...] (1394 aa) |
| | TTC19 | Tetratricopeptide repeat protein 19, mitochondrial; Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity. (380 aa) |
| | UTP6 | U3 small nucleolar RNA-associated protein 6 homolog; Involved in nucleolar processing of pre-18S ribosomal RNA. Belongs to the UTP6 family. (597 aa) |
| | PSMD11 | 26S proteasome non-ATPase regulatory subunit 11; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. P [...] (422 aa) |
| | NAA25 | N-alpha-acetyltransferase 25, NatB auxiliary subunit; Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp-Glu. May play a role in normal cell-cycle progression. Belongs to the MDM20/NAA25 family. (972 aa) |
| | ANAPC5 | Anaphase-promoting complex subunit 5; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. (755 aa) |
| | MAU2 | MAU2 chromatid cohesion factor homolog; Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin. Plays a role in sister chromatid cohesion and normal progression through prometaphase. (613 aa) |
| | EEF2K | Eukaryotic elongation factor 2 kinase; Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate of protein synthesis is reduced. (725 aa) |
| | SMG6 | Telomerase-binding protein EST1A; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER). (1419 aa) |
| | TCF25 | Transcription factor 25; May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development. Belongs to the TCF25 family. (676 aa) |
| | NAPA | Alpha-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (Probable). Together with GNA12 promotes CDH5 localization to plasma membrane. Belongs to the SNAP family. (295 aa) |
| | P4HA1 | Prolyl 4-hydroxylase subunit alpha-1; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family. (534 aa) |
| | TANC1 | Protein TANC1; May be a scaffold component in the postsynaptic density. (1861 aa) |
| | GTF3C3 | General transcription factor 3C polypeptide 3; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters. (886 aa) |
| | PSMD3 | 26S proteasome non-ATPase regulatory subunit 3; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S3 family. (534 aa) |
| | GET4 | Golgi to ER traffic protein 4 homolog; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches- containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of [...] (327 aa) |
| | PRPF6 | Pre-mRNA-processing factor 6; Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone- induced transactivation activity of AR, as well as dexamethasone- induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. (941 aa) |
| | TMTC3 | Protein O-mannosyl-transferase TMTC3; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3. Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response. (914 aa) |
| | BBS4 | Bardet-Biedl syndrome 4 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] (519 aa) |
| | UNC45B | Protein unc-45 homolog B; Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development. (931 aa) |
| | FEM1A | Protein fem-1 homolog A; Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with PTGER4; Belongs to the fem-1 family. (669 aa) |
| | FEM1C | Protein fem-1 homolog C; Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit; Belongs to the fem-1 family. (617 aa) |
| | C8orf76 | Uncharacterized protein C8orf76; Chromosome 8 open reading frame 76. (380 aa) |
| | AIP | AH receptor-interacting protein; May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting. (330 aa) |
| | RANBP2 | E3 SUMO-protein ligase RanBP2; E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB. Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex [...] (3224 aa) |
| | TRAPPC8 | Trafficking protein particle complex subunit 8; Plays a role in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. Maintains together with TBC1D14 the cycling pool of ATG9 required for initiation of autophagy ; Belongs to the TRS85 family. (1435 aa) |
| | TOMM70 | Mitochondrial import receptor subunit TOM70; Receptor that accelerates the import of all mitochondrial precursor proteins. (608 aa) |
| | PTCD1 | Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria- encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs; Belongs to the PTCD1 family. (700 aa) |
| | TTC14 | Tetratricopeptide repeat domain 14; Belongs to the TTC14 family. (770 aa) |
| | NAA15 | N-alpha-acetyltransferase 15, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter. (866 aa) |
| | RAPSN | 43 kDa receptor-associated protein of the synapse; Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. (412 aa) |
| | COPS2 | COP9 signalosome complex subunit 2; Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kina [...] (450 aa) |
| | PPID | Peptidyl-prolyl cis-trans isomerase D; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Proposed to act as a co- chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone- receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor [...] (370 aa) |
| | SMYD4 | SET and MYND domain containing 4; Belongs to the class V-like SAM-binding methyltransferase superfamily. (804 aa) |
| | RGPD8 | RANBP2 like and GRIP domain containing 8. (1765 aa) |
| | VPS41 | Vacuolar protein sorting-associated protein 41 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a core component of the putative HOPS endosomal tethering complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal me [...] (854 aa) |
| | PCP2 | Purkinje cell protein 2 homolog; May function as a cell-type specific modulator for G protein- mediated cell signaling. (136 aa) |
| | CFAP70 | Cilia and flagella associated protein 70; Belongs to the CFAP70 family. (1121 aa) |
| | TTC9B | Tetratricopeptide repeat domain 9B; Belongs to the TTC9 family. (239 aa) |
| | TTC27 | Tetratricopeptide repeat domain 27. (843 aa) |
| | PRMT9 | Protein arginine N-methyltransferase 9; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA. Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N-methyltransferase family. (845 aa) |
| | CSTF3 | Cleavage stimulation factor subunit 3; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. (717 aa) |
| | P3H2 | Prolyl 3-hydroxylase 2; Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline. Has no activity on substrates that lack 4- hydroxyproline in the third position. Belongs to the leprecan family. (708 aa) |
| | WDTC1 | WD and tetratricopeptide repeats protein 1; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. (677 aa) |
| | EIF3L | Eukaryotic translation initiation factor 3 subunit L; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl- tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] (564 aa) |
| | TTC37 | Tetratricopeptide repeat protein 37; Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C). (1564 aa) |
| | SRP72 | Signal recognition particle subunit SRP72; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function; Belongs to the SRP72 family. (671 aa) |
| | TRANK1 | Tetratricopeptide repeat and ankyrin repeat containing 1. (2969 aa) |
| | IFIT2 | Interferon-induced protein with tetratricopeptide repeats 2; IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2'-O-methylation of the 5' cap. The ribose 2'-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2'-O-methylase for their mRNAs or by stealing host cap containing the 2'-O-methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5' triphosphorylati [...] (472 aa) |
| | TTC34 | Tetratricopeptide repeat domain 34. (566 aa) |
| | NPHP3-ACAD11 | NPHP3-ACAD11 readthrough. (232 aa) |
| | NAPB | Beta-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. (302 aa) |
| | TTC8 | Tetratricopeptide repeat protein 8; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl [...] (531 aa) |
| | VPS11 | Vacuolar protein sorting-associated protein 11 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] (941 aa) |
| | CLTC | Clathrin heavy chain 1; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans- Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. Plays a role in early autophagosome formation. (1679 aa) |
| | P3H3 | Prolyl 3-hydroxylase 3; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it function [...] (736 aa) |
| | TTC25 | Tetratricopeptide repeat protein 25; Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility. (672 aa) |
| | DNAJC3 | DnaJ homolog subfamily C member 3; Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF- 2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF [...] (504 aa) |
| | DENND4C | DENN domain-containing protein 4C; Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin. (1958 aa) |
| | FKBP8 | Peptidyl-prolyl cis-trans isomerase FKBP8; Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. (413 aa) |
| | COPE | Coatomer subunit epsilon; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex [...] (331 aa) |
| | POLRMT | DNA-directed RNA polymerase, mitochondrial; DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA. In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand. (1230 aa) |
| | CLUH | Clustered mitochondria protein homolog; mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear- encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis; Belongs to the CLU family. (1309 aa) |
| | NUB1 | NEDD8 ultimate buster 1; Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2. (639 aa) |
| | RGPD1 | RANBP2 like and GRIP domain containing 1. (1748 aa) |
| | SART3 | Squamous cell carcinoma antigen recognized by T-cells 3; U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation. Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non- canonical splice sites. May also function as a substrate-targeting factor [...] (963 aa) |
| | FICD | Protein adenylyltransferase FICD; Protein that can both mediate the addition of adenosine 5'- monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context (By similarity). The side chain of Glu-231 determines which of the two opposing activities (AMPylase or de-AMPylase) will take place (By similarity). Acts as a key regulator of the ERN1/IRE1-mediated unfolded protein response (UPR) by mediating AMPylation or de-AMPylation of HSPA5/BiP. In unstressed cells, acts as an a [...] (458 aa) |
| | FKBP5 | Peptidyl-prolyl cis-trans isomerase FKBP5; Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded. Acts as a regulator of Akt/AKT1 activity by promoting the interaction between Akt/AKT1 and PHLPP1, thereby enhancing dephosphorylation and subsequent activation of Akt/AKT1. (457 aa) |
| | UTY | Histone demethylase UTY; Male-specific histone demethylase that catalyzes trimethylated 'Lys-27' (H3K27me3) demethylation in histone H3. Has relatively low lysine demethylase activity. Belongs to the UTX family. (1444 aa) |
| | TMTC1 | Protein O-mannosyl-transferase TMTC1; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3. (882 aa) |
| | CLTCL1 | Clathrin heavy chain 2; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans- Golgi network (By similarity). (1640 aa) |
| | PRORP | Mitochondrial ribonuclease P catalytic subunit; Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends. The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends. (583 aa) |
| | COA8-2 | Uncharacterized protein. (732 aa) |
| | CDC27 | Cell division cycle protein 27 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC3/CDC27 family. (830 aa) |
| | INTS8 | Integrator complex subunit 8; Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'- box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. (995 aa) |
| | MRPS27 | 28S ribosomal protein S27, mitochondrial; RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis. Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain. Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu). Involved also in positive regulation of cell proliferation and tumor cell growth. (428 aa) |
| | SMG7 | Protein SMG7; Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. (1178 aa) |
| | SH3TC2 | SH3 domain and tetratricopeptide repeats 2. (1288 aa) |
| | TTC29 | Tetratricopeptide repeat domain 29. (501 aa) |
| | TTC39B | Tetratricopeptide repeat protein 39B; Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3). (682 aa) |
| | TTC23L | Tetratricopeptide repeat domain 23 like. (361 aa) |
| | PEX5L | PEX5-related protein; Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence; Belongs to the peroxisomal targeting signal receptor family. (626 aa) |
| | TTC12 | Tetratricopeptide repeat domain 12. (711 aa) |
| | TTC26 | Intraflagellar transport protein 56; Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT compl [...] (554 aa) |
| | SMYD3 | Histone-lysine N-methyltransferase SMYD3; Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but not monomethylation. Also methylates 'Lys-5' of histone H4. Plays an important role in transcriptional activation as a member of an RNA polymerase complex. Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences ; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. (428 aa) |
| | PSMD6 | 26S proteasome non-ATPase regulatory subunit 6; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S10 family. (442 aa) |
| | SNX21 | Sorting nexin-21; Binds to membranes enriched in phosphatidylinositol 3- phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking. Belongs to the sorting nexin family. (373 aa) |
| | KLC1 | Kinesin light chain 1; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity. (618 aa) |
| | UNC45A | Protein unc-45 homolog A; Acts as co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity). (944 aa) |
| | DNAJC7 | DnaJ homolog subfamily C member 7; Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity). (494 aa) |
| | P4HA3 | Prolyl 4-hydroxylase subunit alpha-3; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family. (604 aa) |
| | ATP5MF-PTCD1 | ATP5MF-PTCD1 readthrough. (749 aa) |
| | CNOT10 | CCR4-NOT transcription complex subunit 10; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4-NOT complex. (804 aa) |
| | KLC2 | Kinesin light chain 2; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). (622 aa) |
| | TTC21A | Tetratricopeptide repeat protein 21A; Intraflagellar transport (IFT)-associated protein required for spermatogenesis. Required for sperm flagellar formation and intraflagellar transport. Belongs to the TTC21 family. (1320 aa) |
| | DELE1 | DAP3-binding cell death enhancer 1; Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. (515 aa) |
| | ANAPC7 | Anaphase-promoting complex subunit 7; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC7 family. (599 aa) |
| | TTC39A | Tetratricopeptide repeat domain 39A. (613 aa) |
| | SMYD1 | Histone-lysine N-methyltransferase SMYD1; Methylates histone H3 at 'Lys-4' (H3K4me), seems able to perform both mono-, di-, and trimethylation. Acts as a transcriptional repressor. Essential for cardiomyocyte differentiation and cardiac morphogenesis; Belongs to the class V-like SAM-binding methyltransferase superfamily. (490 aa) |
| | GPSM1 | G-protein-signaling modulator 1; Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G- protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein- coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction. Belongs to the GPSM family. (675 aa) |
| | PEX5 | Peroxisomal targeting signal 1 receptor; Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. (660 aa) |
| | DENND4A | C-myc promoter-binding protein; Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. According to it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter. (1906 aa) |
| | TANC2 | Protein TANC2; Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines. (1990 aa) |
| | RGPD4 | RANBP2 like and GRIP domain containing 4. (1758 aa) |
| | RGPD3 | RANBP2 like and GRIP domain containing 3. (1758 aa) |
| | TONSL | Tonsoku-like protein; Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double- strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold. Belongs to the Tonsoku family. (1378 aa) |
| | TTC30B | Tetratricopeptide repeat protein 30B; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip. (665 aa) |
| | RMDN1 | Regulator of microtubule dynamics 1. (314 aa) |
| | GPSM2 | G-protein-signaling modulator 2; Plays an important role in mitotic spindle pole organization via its interaction with NUMA1. Required for cortical dynein-dynactin complex recruitment during metaphase. Plays a role in metaphase spindle orientation. Plays also an important role in asymmetric cell divisions. Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity). (684 aa) |
| | P4HA2 | Prolyl 4-hydroxylase subunit alpha-2; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. (535 aa) |
| | SEL1L3 | Protein sel-1 homolog 3; SEL1L family member 3. (1132 aa) |
| | WDR19 | WD repeat-containing protein 19; As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs), it is involved in cilia function and/or assembly. Essential for functional IFT-A assembly and ciliary entry of GPCRs. Associates with the BBSome complex to mediate ciliary transport (By similarity). (1342 aa) |
| | TTC3 | E3 ubiquitin-protein ligase TTC3; E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains. Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Positively regulates TGFB1-induced epithelial- mesenchymal transition and myofibroblast differentiation by [...] (2025 aa) |
| | CABIN1 | Calcineurin-binding protein cabin-1; May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. (2220 aa) |
| | LONRF1 | LON peptidase N-terminal domain and ring finger 1. (773 aa) |
| | RGPD2 | RANBP2 like and GRIP domain containing 2. (1756 aa) |
| | TTC28 | Tetratricopeptide repeat protein 28; During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody. (2481 aa) |
| | CCNF | Cyclin-F; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of CP110 during G2 phase, thereby acting as an inhibitor of centrosome reduplication. Belongs to the cyclin family. Cyclin AB subfamily. (786 aa) |
| | ZC3H7A | Zinc finger CCCH domain-containing protein 7A; May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3'- ATA(A/T)-5' motif in the apical loop. (971 aa) |
| | TEX11 | Testis-expressed protein 11; Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers. (940 aa) |
| | CDC23 | Cell division cycle protein 23 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC8/CDC23 family. (597 aa) |
| | TTC7A | Tetratricopeptide repeat protein 7A; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity). (882 aa) |
| | TTC23 | Tetratricopeptide repeat protein 23; Participates positively in the ciliary Hedgehog (Hh) signaling. (447 aa) |
| | LONRF2 | LON peptidase N-terminal domain and ring finger 2. (754 aa) |
| | KLC3 | Kinesin light chain 3; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport; Belongs to the kinesin light chain family. (504 aa) |
| | SPAG1 | Sperm-associated antigen 1; May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity. (926 aa) |
| | AIPL1 | Aryl-hydrocarbon-interacting protein-like 1; May be important in protein trafficking and/or protein folding and stabilization. (384 aa) |
| | TTC38 | Tetratricopeptide repeat domain 38; Belongs to the TTC38 family. (469 aa) |
| | SGTB | Small glutamine-rich tetratricopeptide repeat-containing protein beta; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity. (304 aa) |
| | PTCD2 | Pentatricopeptide repeat-containing protein 2, mitochondrial; Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function. (388 aa) |
| | ASPH | Aspartyl/asparaginyl beta-hydroxylase; [Isoform 1]: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins; Belongs to the aspartyl/asparaginyl beta-hydroxylase family. (758 aa) |
| | NAA16 | N-alpha-acetyltransferase 16, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. (864 aa) |
| | ZFC3H1 | Zinc finger C3H1 domain-containing protein; Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters. (1989 aa) |
| | FANCG | Fanconi anemia group G protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene. (622 aa) |
| | SEL1L2 | Protein sel-1 homolog 2; SEL1L2 adaptor subunit of ERAD E3 ligase; Belongs to the sel-1 family. (575 aa) |
| | SUGT1 | Protein SGT1 homolog; May play a role in ubiquitination and subsequent proteasomal degradation of target proteins. (365 aa) |
| | KDM6A | Lysine-specific demethylase 6A; Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. Plays a demethylase-independent role in chromatin remodeling to regulate T [...] (1401 aa) |
| | CRNKL1 | Crooked neck-like protein 1; Involved in pre-mRNA splicing process. Belongs to the crooked-neck family. (848 aa) |
| | FKBPL | FK506-binding protein-like; May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21. (349 aa) |
| | GPSM3 | G-protein-signaling modulator 3; Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins. (160 aa) |
| | OGT | UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N- acetylglucosamine (O-GlcNAc). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, EZH2, PFKL, KMT2E/MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing. Probably by glycosylating [...] (1046 aa) |
| | TTC16 | Tetratricopeptide repeat domain 16. (873 aa) |
| | TOMM34 | Mitochondrial import receptor subunit TOM34; Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state. (309 aa) |
| | ZMYND12 | Zinc finger MYND-type containing 12. (365 aa) |
| | IFIT3 | Interferon-induced protein with tetratricopeptide repeats 3; IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exihibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B [...] (490 aa) |
| | IFIT1B | Interferon induced protein with tetratricopeptide repeats 1B. (474 aa) |
| | IFIT1 | Interferon-induced protein with tetratricopeptide repeats 1; Interferon-induced antiviral RNA-binding protein that specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs and inhibiting expression of viral messenger RNAs. Single-stranded PPP- RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'- triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non- [...] (478 aa) |
| | IFIT5 | Interferon-induced protein with tetratricopeptide repeats 5; Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments. Specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are [...] (482 aa) |
| | LONRF3 | LON peptidase N-terminal domain and ring finger 3. (759 aa) |
| | COA7 | Cytochrome c oxidase assembly factor 7; Required for assembly of mitochondrial respiratory chain complex I and complex IV; Belongs to the hcp beta-lactamase family. (231 aa) |
| | TTC4 | Tetratricopeptide repeat protein 4; May act as a co-chaperone for HSP90AB1. Promotes Sendai virus (SeV)-induced host cell innate immune responses. (387 aa) |
| | TTC22 | Tetratricopeptide repeat domain 22. (569 aa) |
| | TTK | Dual specificity protein kinase TTK; Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint. (857 aa) |
| | PDCD11 | Protein RRP5 homolog; Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA. (1871 aa) |
| | F8A2 | 40-kDa huntingtin-associated protein; RAB5A effector molecule that is involved in vesicular trafficking of early endosomes. Mediates the recruitment of HTT by RAB5A onto early endosomes. The HTT- F8A1/F8A2/F8A3-RAB5A complex stimulates early endosomal interaction with actin filaments and inhibits interaction with microtubules, leading to the reduction of endosome motility. (371 aa) |
| | TTC24 | Tetratricopeptide repeat domain 24. (582 aa) |
| | NCF2 | Neutrophil cytosol factor 2; NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). (526 aa) |
| | SMYD2 | N-lysine methyltransferase SMYD2; Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins, including p53/TP53 and RB1. Specifically trimethylates histone H3 'Lys-4' (H3K4me3) in vivo. The activity requires interaction with HSP90alpha. Shows even higher methyltransferase activity on p53/TP53. Monomethylates 'Lys-370' of p53/TP53, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity of p53/TP53. Monomethylates RB1 at 'Lys-860'. Belongs to the class V-like SAM-binding methyltransferase superfamily. (433 aa) |
| | TTC13 | Tetratricopeptide repeat domain 13. (860 aa) |
| | SMG5 | Protein SMG5; Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity. (1016 aa) |
| | CTR9 | RNA polymerase-associated protein CTR9 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] (1173 aa) |
| | KIFBP | KIF-binding protein; Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development; Belongs to the KIF-binding protein family. (621 aa) |
| | DENND4B | DENN domain-containing protein 4B; Guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP- bound Rab proteins into their active GTP-bound form. (1496 aa) |
| | MTOR | Serine/threonine-protein kinase mTOR; Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals. MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. This includes phosphorylation of EIF [...] (2549 aa) |
| | STIP1 | Stress-induced-phosphoprotein 1; Acts as a co-chaperone for HSP90AA1. Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity). (590 aa) |
| | XAB2 | Pre-mRNA-splicing factor SYF1; Involved in pre-mRNA splicing as component of the spliceosome. Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing. Belongs to the crooked-neck family. (855 aa) |
| | ST7L | Suppression of tumorigenicity 7 like; Belongs to the ST7 family. (575 aa) |
| | ZHX1-C8orf76 | Zinc fingers and homeoboxes protein 1, isoform 2; ZHX1-C8orf76 readthrough. (292 aa) |
| | CDC16 | Cell division cycle protein 16 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Belongs to the APC6/CDC16 family. (620 aa) |
| | PRPF39 | Pre-mRNA-processing factor 39; Involved in pre-mRNA splicing. (669 aa) |
| | TTC30A | Tetratricopeptide repeat protein 30A; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip; Belongs to the TTC30/dfy-1/fleer family. (665 aa) |
| | P3H4 | Endoplasmic reticulum protein SC65; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly; Belongs to the leprecan family. (437 aa) |
| | NRDE2 | Nuclear exosome regulator NRDE2; Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation. Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation. Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome. By preventing the degradation of RNAs in the nucleus, [...] (1164 aa) |
| | ZC3H7B | Zinc finger CCCH domain-containing protein 7B; May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 'ATA(A/T)' motif in the apical loop. (977 aa) |
| | TMTC4 | Protein O-mannosyl-transferase TMTC4; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3. (760 aa) |
| | ATR | Serine/threonine-protein kinase ATR; Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]- Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX at sites of DNA damage, thereby regulating DNA damage respon [...] (2644 aa) |
| | NOXA1 | NADPH oxidase activator 1; Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3. Belongs to the NCF2/NOXA1 family. (483 aa) |
| | SPATA16 | Spermatogenesis-associated protein 16; Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion. (569 aa) |
| | NPHP3 | Nephrocystin-3; Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. (1330 aa) |
| | TTC33 | Tetratricopeptide repeat domain 33. (262 aa) |
| | SEL1L | Protein sel-1 homolog 1; Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling. (794 aa) |
| | TTC7B | Tetratricopeptide repeat protein 7B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions. (843 aa) |
| | TTC32 | Tetratricopeptide repeat domain 32. (151 aa) |
| | LRP2BP | LRP2-binding protein; May act as an adapter that regulates LRP2 function. (347 aa) |
| | TTC9C | Tetratricopeptide repeat domain 9C; Belongs to the TTC9 family. (171 aa) |
| | TMTC2 | Protein O-mannosyl-transferase TMTC2; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl- transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O- mannosyl-transferase on other proteins such as PDIA3. (836 aa) |
| | DNAAF4 | Dynein assembly factor 4, axonemal; Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. (420 aa) |
| | IFT88 | Intraflagellar transport protein 88 homolog; Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment. (833 aa) |
| | TTC39C | Tetratricopeptide repeat domain 39C. (583 aa) |
| | CRTAP | Cartilage-associated protein; Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues; Belongs to the leprecan family. (401 aa) |
| | TRAPPC12 | Trafficking protein particle complex subunit 12; Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage. Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores. (735 aa) |
| | NAPG | Gamma-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus; Belongs to the SNAP family. (312 aa) |
