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ARFGEF2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma [...] (1785 aa) | ||||
RPGRIP1L | Protein fantom; 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; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins [...] (1315 aa) | ||||
RIBC2 | RIB43A domain with coiled-coils 2. (382 aa) | ||||
C1orf158 | Uncharacterized protein C1orf158; Chromosome 1 open reading frame 158. (194 aa) | ||||
C15orf65 | Uncharacterized protein C15orf65; Chromosome 15 open reading frame 65. (121 aa) | ||||
ARL6 | ADP-ribosylation factor-like protein 6; Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent [...] (186 aa) | ||||
EFHC2 | EF-hand domain-containing family member C2; EF-hand domain containing 2. (749 aa) | ||||
C9orf116 | UPF0691 protein C9orf116; Chromosome 9 open reading frame 116. (136 aa) | ||||
CCDC173 | Coiled-coil domain containing 173. (552 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) | ||||
CEP162 | Centrosomal protein of 162 kDa; Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules. Belongs to the CEP162 family. (1403 aa) | ||||
FAM166B | Protein FAM166B; Family with sequence similarity 166 member B; Belongs to the UPF0605 family. (275 aa) | ||||
CFAP53 | Cilia- and flagella-associated protein 53; May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis. (514 aa) | ||||
TEKT3 | Tektin-3; May be a structural component of the sperm flagellum. Required for normal sperm mobility. (490 aa) | ||||
SAXO1 | Stabilizer of axonemal microtubules 1; May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature. Belongs to the FAM154 family. (474 aa) | ||||
C9orf135 | Protein C9orf135; Chromosome 9 open reading frame 135. (229 aa) | ||||
EFHC1 | EF-hand domain-containing protein 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death. (640 aa) | ||||
C1orf194 | Protein C1orf194; May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis. (157 aa) | ||||
C1orf189 | Uncharacterized protein C1orf189; Chromosome 1 open reading frame 189. (101 aa) | ||||
CFAP45 | Cilia and flagella associated protein 45. (551 aa) | ||||
CFAP126 | Protein Flattop; Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear. (177 aa) | ||||
NME7 | Nucleoside diphosphate kinase 7; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate; Belongs to the NDK family. (376 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) | ||||
TEKT1 | Tektin-1; Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules; Belongs to the tektin family. (418 aa) | ||||
SPAG8 | Sperm-associated antigen 8; Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5- regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis. May play a role in fertility and microtubule formation through interaction with RANBP9. (501 aa) | ||||
ENKUR | Enkurin; Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel. (256 aa) | ||||
C19orf71 | Uncharacterized protein C19orf71; Chromosome 19 open reading frame 71. (209 aa) | ||||
EFHB | EF-hand domain-containing family member B; Cytosolic sensor for calcium, modulates the interaction of STIM1 and ORAI1 upon store depletion, the activation of store-operated Ca(2+) entry (SOCE) and NFAT translocation from cytosol to nucleus. (833 aa) | ||||
TEKT4 | Tektin-4; May be a structural component of the sperm flagellum. Contributes to normal sperm motility; Belongs to the tektin family. (435 aa) | ||||
CFAP161 | Cilia- and flagella-associated protein 161; May play a role in motile cilia function, possibly by acting on dynein arm assembly. (301 aa) | ||||
CFAP20 | Cilia- and flagella-associated protein 20; Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia. Required for axonemal microtubules polyglutamylation. (193 aa) | ||||
MNS1 | Meiosis-specific nuclear structural protein 1; May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis; Belongs to the MNS1 family. (495 aa) | ||||
TEKT2 | Tektin-2; Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. (430 aa) | ||||
SAXO2 | Stabilizer of axonemal microtubules 2. (398 aa) | ||||
CFAP52 | Cilia- and flagella-associated protein 52; May play a role in cell growth and/or survival. Belongs to the CFAP52 family. (620 aa) | ||||
PACRG | Parkin coregulated gene protein; Suppresses cell death induced by accumulation of unfolded Pael receptor (Pael-R, a substrate of Parkin). Facilitates the formation of inclusions consisting of Pael-R, molecular chaperones, protein degradation molecules and itself when proteasome is inhibited. May play an important role in the formation of Lewy bodies and protection of dopaminergic neurons against Parkinson disease. (296 aa) |