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| PAF1 | RNA polymerase II-associated factor 1 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 [...] (531 aa) | |||
| TULP2 | Tubby like protein 2; Belongs to the TUB family (520 aa) | |||
| TBC1D17 | TBC1 domain family member 17; Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known (648 aa) | |||
| TBC1D12 | TBC1 domain family member 12; May act as a GTPase-activating protein for Rab family protein(s) (775 aa) | |||
| SGSM3 | Small G protein signaling modulator 3; May play a cooperative role in NF2-mediated growth suppression of cells; Small G protein signaling modulators (749 aa) | |||
| RABGAP1L | Rab GTPase-activating protein 1-like; GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A- GDP. Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous dir [...] (815 aa) | |||
| RRM2B | Ribonucleoside-diphosphate reductase subunit M2 B; Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage (351 aa) | |||
| MEOX2 | Homeobox protein MOX-2; Mesodermal transcription factor that plays a key role in somitogenesis and is required for sclerotome development (By similarity). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle; HOXL subclass homeoboxes (304 aa) | |||
| SGSM2 | Small G protein signaling modulator 2; Possesses GTPase activator activity towards RAB32, RAB33B and RAB38. Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation; Belongs to the RUTBC family (1051 aa) | |||
| IFT122 | Intraflagellar transport protein 122 homolog; Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity); Intraflagellar transport proteins (1292 aa) | |||
| LEO1 | RNA polymerase-associated protein LEO1; 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 of Hox [...] (666 aa) | |||
| MYEOV2 | Myeloma overexpressed 2 (252 aa) | |||
| SIK2 | Serine/threonine-protein kinase SIK2; Phosphorylates ’Ser-794’ of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators (926 aa) | |||
| WDR35 | WD repeat-containing protein 35; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Required for ciliogenesis. May promote CASP3 activation and TNF-stimulated apoptosis; Intraflagellar transport proteins (1181 aa) | |||
| RRM2 | Ribonucleoside-diphosphate reductase subunit M2; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling; Belongs to the ribonucleoside diphosphate reductase small chain family (449 aa) | |||
| IQGAP3 | Ras GTPase-activating-like protein IQGAP3; IQ motif containing GTPase activating protein 3 (1631 aa) | |||
| CDC73 | Parafibromin; 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 ’Ser-2’- and ’Ser-5’-phosphorylated forms and is involved in transcriptional [...] (531 aa) | |||
| SLC30A7 | Zinc transporter 7; Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc- requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity); Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily (376 aa) | |||
| RPL7A | Ribosomal protein L7a (266 aa) | |||
| SLC30A6 | Zinc transporter 6; Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment; Solute carriers (501 aa) | |||
| SLC30A5 | Zinc transporter 5; Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP; Solute carriers (765 aa) | |||
| ZSWIM8 | Zinc finger SWIM-type containing 8 (1842 aa) | |||
| WDR19 | WD repeat-containing protein 19; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity); Intraflagellar transport proteins (1342 aa) | |||
| TBC1D5 | TBC1 domain family member 5; May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its catalytic activity. Required for retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN); the function seems to require its catalytic activity. Involved in regulation of autophagy. May act as a molecular switch between endosomal and autophagosomal transport and is involved in reprogrammin [...] (817 aa) | |||
| DOCK4 | Dedicator of cytokinesis protein 4; Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP; DOCK C2 domain containing (1966 aa) | |||
| IFT140 | Intraflagellar transport protein 140 homolog; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance. May play a role in ciliary assembly. 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); Intraflagellar transport proteins (1462 aa) | |||
