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| | GLI1 | Zinc finger protein GLI1; Acts as a transcriptional activator. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Regulates the transcription of specific genes during normal development. Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling. Plays a role in cell proliferation and differentiation via its role in SHH signaling. Belongs to the GLI C2H2-type zinc-finger protein family. (1106 aa) |
| | SLC35D1 | UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N- acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen. Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity). (355 aa) |
| | IFT43 | Intraflagellar transport protein 43 homolog; As a component of 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 ciliogenesis. Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base. (213 aa) |
| | IFT81 | Intraflagellar transport protein 81 homolog; Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis. Required for proper regulation of SHH signaling. Belongs to the IFT81 family. (676 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) |
| | SMO | Smoothened homolog; G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia. Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity). (787 aa) |
| | ADAMTS2 | A disintegrin and metalloproteinase with thrombospondin motifs 2; Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity. (1211 aa) |
| | APC | Adenomatous polyposis coli protein; Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)- induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localiza [...] (2843 aa) |
| | KDELR2 | ER lumen protein-retaining receptor 2; Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity); Belongs to the ERD2 family. (212 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) |
| | BRD4 | Bromodomain-containing protein 4; Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structure. During interphase, plays a key role in regulating the transcription of signal- inducible genes by associating with the P-TEFb complex and re [...] (1362 aa) |
| | WNT5A | Protein Wnt-5a; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta- catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decre [...] (380 aa) |
| | EVC | Ellis-van Creveld syndrome protein; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development. (992 aa) |
| | TRIP11 | Thyroid receptor-interacting protein 11; Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function. It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex. Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription. (1979 aa) |
| | NBAS | Neuroblastoma-amplified sequence; Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. (2371 aa) |
| | NIPBL | Nipped-B-like protein; 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 MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double- strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168- dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner. Along with ZNF609, promotes cortical neuron migration d [...] (2804 aa) |
| | CD96 | T-cell surface protein tactile; May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation. (585 aa) |
| | WNT7A | Protein Wnt-7a; Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta- catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development. Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation. Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal [...] (349 aa) |
| | SLC26A2 | Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation. (739 aa) |
| | IHH | Indian hedgehog protein C-product; Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity). (411 aa) |
| | RAD21 | Double-strand-break repair protein rad21 homolog; [Double-strand-break repair protein rad21 homolog]: As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions. The cohesin complex may also play a role in spindle pole assembly during mitosis. In interphase, cohesins may function in the control of gene expression by binding to n [...] (631 aa) |
| | INPPL1 | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling [...] (1258 aa) |
| | CEP120 | Centrosomal protein of 120 kDa; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubu [...] (986 aa) |
| | CCDC8 | Coiled-coil domain-containing protein 8; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Required for localization of CUL7 to the centrosome. (538 aa) |
| | ANTXR2 | Anthrax toxin receptor 2; Necessary for cellular interactions with laminin and the extracellular matrix; Belongs to the ATR family. (489 aa) |
| | DONSON | Protein downstream neighbor of Son; Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability. (566 aa) |
| | GLUL | Glutamine synthetase; Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine. Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts. Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane locali [...] (373 aa) |
| | IFT80 | Intraflagellar transport protein 80 homolog; Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. (777 aa) |
| | WDR35 | WD repeat-containing protein 35; As a 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 ciliogenesis and ciliary protein trafficking. May promote CASP3 activation and TNF-stimulated apoptosis. (1181 aa) |
| | PAM16 | Mitochondrial import inner membrane translocase subunit TIM16; Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity; Belongs to the TIM16/PAM16 family. (125 aa) |
| | DVL3 | Segment polarity protein dishevelled homolog DVL-3; Involved in the signal transduction pathway mediated by multiple Wnt genes. (716 aa) |
| | TENT5A | Terminal nucleotidyltransferase 5A; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase. (442 aa) |
| | FAM20C | Extracellular serine/threonine protein kinase FAM20C; Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth. Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome. Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity. Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1. I [...] (584 aa) |
| | POLE | DNA polymerase epsilon catalytic subunit A; Catalytic component of the DNA polymerase epsilon complex. Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair. Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) [...] (2286 aa) |
| | SMC1A | Structural maintenance of chromosomes protein 1A; Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interacti [...] (1233 aa) |
| | CRTAP | Cartilage-associated protein; Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues; Belongs to the leprecan family. (401 aa) |
| | FZD2 | Frizzled-2; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to i [...] (565 aa) |
| | IDH2 | Isocitrate dehydrogenase [NADP], mitochondrial; Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex; Belongs to the isocitrate and isopropylmalate dehydrogenases family. (452 aa) |
| | FGFR3 | Fibroblast growth factor receptor 3; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Ph [...] (808 aa) |
| | LBR | Delta(14)-sterol reductase LBR; Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis. Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane. (615 aa) |
| | EVC2 | Limbin; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. (1308 aa) |
| | B3GLCT | Beta-1,3-glucosyltransferase; O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan. (498 aa) |
| | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. (809 aa) |
| | KIAA0586 | Protein TALPID3; Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation. Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity). Belongs to the TALPID3 family. (1644 aa) |
| | DDRGK1 | DDRGK domain-containing protein 1; Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription. May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B. May also play a role in the cellular response to endoplasmic reticulum stress (By similarity). Plays a role in cartilage development through SOX9, inhibiting the ubiquitin-mediated proteasoma [...] (314 aa) |
| | FN1 | Fibronectin; Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts. (2477 aa) |
| | DHCR7 | 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC); Belongs to the ERG4/ERG24 family. (475 aa) |
| | ICK | Serine/threonine-protein kinase ICK; Required for ciliogenesis. Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length. Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling- dependent manner and this regulation requires its kinase activity ( [...] (632 aa) |
| | PCNT | Pericentrin; Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome. (3336 aa) |
| | SMC3 | Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement. (1217 aa) |
| | DDR2 | Discoidin domain-containing receptor 2; Tyrosine kinase involved in the regulation of tissues remodeling. It functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up- regulation of the collagenases MMP1, MM [...] (855 aa) |
| | COL11A1 | Collagen alpha-1(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. (1806 aa) |
| | DPYD | Dihydropyrimidine dehydrogenase [NADP(+)]; Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil; Belongs to the dihydropyrimidine dehydrogenase family. (1025 aa) |
| | DHCR24 | Delta(24)-sterol reductase; Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. In addition to its cholesterol-synthesizing activity, can protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis. (516 aa) |
| | WDR34 | WD repeat-containing protein 34; Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL- 1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation. (536 aa) |
| | HDAC8 | Histone deacetylase 8; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. (377 aa) |
| | GDF5 | Growth/differentiation factor 5; Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction. Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG. Required to prevent excessive muscle loss upo [...] (501 aa) |
| | HSPG2 | Basement membrane-specific heparan sulfate proteoglycan core protein; Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. The LG3 peptide has anti-angiogenic properties that require [...] (4391 aa) |
| | COL11A2 | Collagen alpha-2(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. (1650 aa) |
| | ALPL | Alkaline phosphatase, tissue-nonspecific isozyme; This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi); Belongs to the alkaline phosphatase family. (524 aa) |
| | PSAT1 | Phosphoserine aminotransferase; Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily. (370 aa) |
| | GPC6 | Secreted glypican-6; Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling. Belongs to the glypican family. (555 aa) |
| | EXT1 | Exostosin-1; Glycosyltransferase required for the biosynthesis of heparan- sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan. (746 aa) |
| | LRP4 | Low-density lipoprotein receptor-related protein 4; Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the [...] (1905 aa) |
| | DVL1 | Segment polarity protein dishevelled homolog DVL-1; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ). (695 aa) |
| | MBTPS2 | Membrane-bound transcription factor site-2 protease; Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription. Involved in RIP-mediated regulation of bone formation. (519 aa) |
| | COL2A1 | Collagen alpha-1(II) chain; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. (1487 aa) |
| | SHOX | Short stature homeobox protein; Controls fundamental aspects of growth and development; Belongs to the paired homeobox family. Bicoid subfamily. (292 aa) |
| | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. (381 aa) |
| | KIF7 | Kinesin-like protein KIF7; Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU- dependent and -independent mechanisms. Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the tran [...] (1343 aa) |
| | EXT2 | Exostosin-2; Glycosyltransferase required for the biosynthesis of heparan- sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan. (751 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) |
| | MATN3 | Matrilin-3; Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. (486 aa) |
| | WDR60 | WD repeat-containing protein 60; May play a role in ciliogenesis. (1066 aa) |
| | OBSL1 | Obscurin-like protein 1; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons. (1896 aa) |
| | ACAN | Aggrecan core protein 2; This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region. (2530 aa) |
| | IDH1 | Isocitrate dehydrogenase 1. (414 aa) |
| | LIFR | Leukemia inhibitory factor receptor; Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells; Belongs to the type I cytokine receptor family. Type 2 subfamily. (1097 aa) |
| | BMPR1B | Bone morphogenetic protein receptor type-1B; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction. (532 aa) |
| | PTH1R | Parathyroid hormone/parathyroid hormone-related peptide receptor; Receptor for parathyroid hormone and for parathyroid hormone- related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. (593 aa) |
| | IFT140 | Intraflagellar transport protein 140 homolog; 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). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity). (1462 aa) |
| | TRPV4 | Transient receptor potential cation channel subfamily V member 4; Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by heat, low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin- dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in t [...] (871 aa) |
| | FGFR2 | Fibroblast growth factor receptor 2; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell p [...] (822 aa) |
| | CSGALNACT1 | Chondroitin sulfate N-acetylgalactosaminyltransferase 1; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification. Moreover, is involved in the metabolism of aggrecan (By similarity). (532 aa) |
| | CDKN1C | Cyclin-dependent kinase inhibitor 1C; Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life; Belongs to the CDI family. (316 aa) |
| | HYLS1 | Hydrolethalus syndrome protein 1; Plays a role in ciliogenesis. (299 aa) |
| | FLNB | Filamin-B; Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro; Belongs to the filamin family. (2633 aa) |
| | PUF60 | Poly(U)-binding-splicing factor PUF60; DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group [...] (559 aa) |
| | SERPINH1 | Serpin H1; Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen. (418 aa) |
| | HHAT | Protein-cysteine N-palmitoyltransferase HHAT; Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP; Belongs to the membrane-bound acyltransferase family. HHAT subfamily. (494 aa) |
| | CUL7 | Cullin-7; Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5. Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as [...] (1782 aa) |
| | DYNC2LI1 | Cytoplasmic dynein 2 light intermediate chain 1; Required for correct intraflagellar transport (IFT), the bi- directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length. (352 aa) |
| | TCTN3 | Tectonic-3; Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway. (607 aa) |
| | PHGDH | D-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L- serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. (533 aa) |
| | ACTB | Actin, cytoplasmic 1, N-terminally processed; Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells. Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction. In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA. (375 aa) |
| | DYNC2H1 | Cytoplasmic dynein 2 heavy chain 1; May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity). (4314 aa) |
