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PSMD5 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 5; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD5-PSMC2-PSMC1-PSMD2 module which probably assembles with a PSMD10-PSMC4-PSMC5-PAAF1 module followed by dissociation of PSMD5 (504 aa) | |||
PSMD7 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 7; Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (324 aa) | |||
TTC21B | tetratricopeptide repeat domain 21B (1316 aa) | |||
DZIP1 | DAZ interacting protein 1; May participate in spermatogenesis via its interaction with DAZ (867 aa) | |||
IFT172 | intraflagellar transport 172 homolog (Chlamydomonas); 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) (1749 aa) | |||
PSMA6 | proteasome (prosome, macropain) subunit, alpha type, 6; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity (By similarity) (246 aa) | |||
IFT57 | intraflagellar transport 57 homolog (Chlamydomonas); Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro- apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5’-AAAGACATG-3’ present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear (429 aa) | |||
EVC | Ellis van Creveld syndrome; Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development (By similarity) (992 aa) | |||
PSMB4 | proteasome (prosome, macropain) subunit, beta type, 4; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Mediates the lipopolysaccharide-induced signal macrophage proteasome (By similarity). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1 (264 aa) | |||
PSMD6 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 6; Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (389 aa) | |||
PSMD1 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (953 aa) | |||
PSMD2 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 2; Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (908 aa) | |||
FUZ | fuzzy homolog (Drosophila); Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity) (418 aa) | |||
IFT88 | intraflagellar transport 88 homolog (Chlamydomonas); Involved in primary cilium biogenesis (By similarity) (833 aa) | |||
EVC2 | Ellis van Creveld syndrome 2; Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development (1308 aa) | |||
PSMD12 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 12; Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (456 aa) | |||
GLI2 | GLI family zinc finger 2; Acts as a transcriptional activator. May play a role during embryogenesis. Binds to the DNA sequence 5’-GAACCACCCA-3’ which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1. Is involved in the smoothened (SHH) signaling pathway (1586 aa) | |||
CDC73 | cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae); Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. 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 [...] (531 aa) | |||
PSMD4 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 4; Binds and presumably selects ubiquitin-conjugates for destruction. Displays selectivity for longer polyubiquitin chains. Modulates intestinal fluid secretion (377 aa) | |||
RBBP4 | retinoblastoma binding protein 4; Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome [...] (425 aa) | |||
RPGRIP1L | RPGRIP1-like; Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity) (1315 aa) | |||
RBBP7 | retinoblastoma binding protein 7; Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling [...] (469 aa) | |||
GLI3 | GLI family zinc finger 3; Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulatin [...] (1580 aa) | |||
PSMB11 | proteasome (prosome, macropain) subunit, beta type, 11; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome (By similarity). Plays a pivotal role in development of CD8-positive T cells (By similarity) (300 aa) | |||
PSMD14 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 14; Metalloprotease component of the 26S proteasome that specifically cleaves ’Lys-63’-linked polyubiquitin chains. The 26S proteasome is involved in the ATP-dependent degradation of ubiquitinated proteins. Plays a role in response to double-strand breaks (DSBs)- acts as a regulator of non-homologous end joining (NHEJ) by cleaving ’Lys-63’-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1 accumulation. Also involved in homologous recombination repair by promoting RAD51 loading (310 aa) | |||
PSMD13 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 13; Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins (378 aa) |