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| HSPB11 | Intraflagellar transport protein 25 homolog; Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components- required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly (By similarity); Intraflagellar transport proteins (144 aa) | |||
| VCL | Vinculin; Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell- surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion; Belongs to the vinculin/alpha-catenin family (1134 aa) | |||
| GLI1 | Zinc finger protein GLI1; Acts as a transcriptional activator. Binds to the DNA consensus sequence 5’- GACCACCCA-3’. May regulate the transcription of specific genes during normal development. May play 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 (Probable); Zinc fingers C2H2-type (1106 aa) | |||
| SPACA1 | Sperm acrosome membrane-associated protein 1; May be involved in sperm-egg fusion (294 aa) | |||
| IFT43 | Intraflagellar transport proteins (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; 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. Negatively modulates the SHH signal transduction (By similarity); Intraflagellar transport proteins (1316 aa) | |||
| KIF17 | Kinesin-like protein KIF17; Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family (1029 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) | |||
| IFT46 | Intraflagellar transport proteins; Cilia and flagella associated (355 aa) | |||
| IFT57 | Intraflagellar transport protein 57 homolog; 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; Belongs to the [...] (429 aa) | |||
| KIF3C | Kinesin-like protein KIF3C; Microtubule-based anterograde translocator for membranous organelles; Kinesins (793 aa) | |||
| PRKAR2A | cAMP-dependent protein kinase type II-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase (404 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) | |||
| LRTOMT | Transmembrane O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. Component of the cochlear hair cell’s mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity); Belongs to the class I-like SAM-binding methyltransferase [...] (291 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) | |||
| PRPF31 | U4/U6 small nuclear ribonucleoprotein Prp31; Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome; U4/U6 small nucleolar ribonucleoprotein (499 aa) | |||
| DOC2A | Double C2-like domain-containing protein alpha; Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells; Synaptotagmin like tandem C2 proteins (400 aa) | |||
| RFX4 | Transcription factor RFX4; May activate transcription by interacting directly with the X-box; Belongs to the RFX family (744 aa) | |||
| COMT | Catechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol; Seven-beta-strand methyltransferase motif containing (271 aa) | |||
| COMTD1 | Catechol O-methyltransferase domain-containing protein 1; Putative O-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O- methyltransferase family (262 aa) | |||
| TULP3 | Tubby-related protein 3; Negative regulator of the Shh signaling transduction pathway- recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein- coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT- A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis; Belongs to the TUB family (501 aa) | |||
| CCDC40 | Coiled-coil domain-containing protein 40; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39; Belongs to the CCDC40 family (1142 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) | |||
| 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) | |||
| 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) | |||
