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| | NME8 | Thioredoxin domain-containing protein 3; Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds. (588 aa) |
| | RSPH4A | Radial spoke head protein 4 homolog A; Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. (716 aa) |
| | ZMYND10 | Zinc finger MYND domain-containing protein 10; Plays a role in axonemal structure organization and motility. Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By similarity). May act by indirectly regulating transcription of dynein proteins (By similarity). Belongs to the ZMYND10 family. (440 aa) |
| | IDUA | alpha-L-iduronidase. (653 aa) |
| | RSPH3 | Radial spoke head protein 3 homolog; Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia. Belongs to the flagellar radial spoke RSP3 family. (560 aa) |
| | RFXAP | Regulatory factor X-associated protein; Part of the RFX complex that binds to the X-box of MHC II promoters. (272 aa) |
| | DNAH9 | Dynein heavy chain 9, axonemal; Force generating protein required for cilia beating in respiratory epithelia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. (4486 aa) |
| | DNAH5 | Dynein heavy chain 5, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles. (4624 aa) |
| | TCIRG1 | V-type proton ATPase 116 kDa subunit a isoform 3; Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation; Belongs to the V-ATPase 116 kDa subunit family. (830 aa) |
| | GAS8 | Dynein regulatory complex subunit 4; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning. Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh [...] (478 aa) |
| | LRRC56 | Leucine-rich repeat-containing protein 56; Required for the assembly of dynein arms. Belongs to the LRRC56 family. (542 aa) |
| | CCNO | Cyclin-O; Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in preparation for apical docking; Belongs to the cyclin family. (350 aa) |
| | DRC1 | Dynein regulatory complex protein 1; Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules. Belongs to the DRC1 family. (740 aa) |
| | CFAP298 | Cilia- and flagella-associated protein 298; Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity); Belongs to the CFAP298 family. (290 aa) |
| | RFX5 | DNA-binding protein RFX5; Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters; Belongs to the RFX family. (616 aa) |
| | RSPH1 | Radial spoke head 1 homolog; May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes. (309 aa) |
| | GFI1 | Zinc finger protein Gfi-1; Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. [...] (422 aa) |
| | STK36 | Serine/threonine-protein kinase 36; Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors. Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization. GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur. Required for postnatal development, possibly by regulating the homeostasis of c [...] (1315 aa) |
| | DNAAF5 | Dynein assembly factor 5, axonemal; Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility. (855 aa) |
| | DNAAF2 | Protein kintoun; Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment. Belongs to the PIH1 family. Kintoun subfamily. (837 aa) |
| | RAG1 | V(D)J recombination-activating protein 1; Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break [...] (1043 aa) |
| | RFXANK | DNA-binding protein RFXANK; Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. May also potentiate the activation of RAF1 (By similarity). (260 aa) |
| | ARMC4 | Armadillo repeat-containing protein 4; Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly. (1044 aa) |
| | CCDC65 | Dynein regulatory complex subunit 2; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules. Belongs to the DRC2 family. (484 aa) |
| | CCDC114 | Coiled-coil domain-containing protein 114; Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms. Belongs to the ODA1/DCC2 family. (670 aa) |
| | DNAAF4 | Dynein assembly factor 4, axonemal; Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. (420 aa) |
| | FOXJ1 | Forkhead box protein J1; Transcription factor specifically required for the formation of motile cilia. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung. Belongs to the FOXJ1 family. (421 aa) |
| | CARMIL2 | Capping protein, Arp2/3 and myosin-I linker protein 2; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization. Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations. Involved as well in cell migration and invadopodia formation during woun [...] (1435 aa) |
| | EDARADD | Ectodysplasin-A receptor-associated adapter protein; Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B. (215 aa) |
| | NEK10 | Serine/threonine-protein kinase Nek10; NIMA related kinase 10; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. (712 aa) |
| | OFD1 | Oral-facial-digital syndrome 1 protein; Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriol [...] (1012 aa) |
| | DNAJB13 | DnaJ homolog subfamily B member 13; Plays a role in the formation of the central complex of ciliary and flagellar axonemes. (316 aa) |
| | BLM | Bloom syndrome protein; ATP-dependent DNA helicase that unwinds single- and double- stranded DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single- stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction. (1417 aa) |
| | SPEF2 | Sperm flagellar protein 2; Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation. (1822 aa) |
| | CCDC151 | Coiled-coil domain-containing protein 151; Ciliary protein involved in outer dynein arm assembly and required for motile cilia function. (595 aa) |
| | SPINK5 | Serine protease inhibitor Kazal-type 5; Serine protease inhibitor, probably important for the anti- inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation- involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin. (1094 aa) |
| | RSPH9 | Radial spoke head protein 9 homolog; Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. (306 aa) |
| | SLC29A3 | Equilibrative nucleoside transporter 3; Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine. (475 aa) |
| | EDA | Ectodysplasin-A, membrane form; Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R. May also play a role in cell adhesion (By similarity). [Isoform 3]: Binds only to the receptor EDA2R. Belongs to the tumor necrosis factor family. (391 aa) |
| | COX4I2 | Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives tran [...] (171 aa) |
| | DNAAF1 | Dynein assembly factor 1, axonemal; Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. (725 aa) |
| | CLCN7 | H(+)/Cl(-) exchange transporter 7; Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. Belongs to the chloride channel (TC 2.A.49) family. ClC- 7/CLCN7 subfamily. (805 aa) |
| | SPAG1 | Sperm-associated antigen 1; May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity. (926 aa) |
| | DBH | Soluble dopamine beta-hydroxylase; Conversion of dopamine to noradrenaline. (617 aa) |
| | HYDIN | Hydrocephalus-inducing protein homolog; Required for ciliary motility. (5121 aa) |
| | EDA2R | Tumor necrosis factor receptor superfamily member 27; Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6. (318 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) |
| | TNFSF11 | Tumor necrosis factor ligand superfamily member 11, membrane form; Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy. Induces osteoclastogenesis by activating multiple signaling pathways in o [...] (317 aa) |
| | CCDC103 | Coiled-coil domain-containing protein 103; Dynein-attachment factor required for cilia motility. Belongs to the CCDC103/PR46b family. (242 aa) |
| | CFAP221 | Cilia- and flagella-associated protein 221; May play a role in cilium morphogenesis. (840 aa) |
| | SNX10 | Sorting nexin-10; Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption. (201 aa) |
| | DNAI2 | Dynein intermediate chain 2, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family. (605 aa) |
| | DNAH1 | Dynein heavy chain 1, axonemal; Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme ; Belongs to the dynein heavy chain family. (4265 aa) |
| | CFAP300 | Cilia- and flagella-associated protein 300; Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly. (267 aa) |
| | CCDC39 | Coiled-coil domain-containing protein 39; 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 CCDC40 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 ; Belongs to the CCDC39 family. (941 aa) |
| | TTC12 | Tetratricopeptide repeat domain 12. (711 aa) |
| | PGM3 | Phosphoacetylglucosamine mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O- glycosylation. (570 aa) |
| | MCIDAS | Multicilin; Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway. Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1. Belongs to the geminin family. (385 aa) |
| | DNAAF3 | Dynein assembly factor 3, axonemal; Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. (608 aa) |
| | PIH1D3 | Protein PIH1D3; Plays a role in cytoplasmic pre-assembly of axonemal dynein. Belongs to the PIH1 family. (214 aa) |
| | SRP54 | Signal recognition particle 54 kDa protein; Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). (504 aa) |
| | DNAL1 | Dynein light chain 1, axonemal; Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-rig [...] (190 aa) |
| | ELANE | Neutrophil elastase; Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis. Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae ; Belongs to the peptidase S1 family. Elastase subfamily. (267 aa) |
| | GAS2L2 | GAS2-like protein 2; Involved in the cross-linking of microtubules and microfilaments. Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers. Enhances ADORA2- mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G-protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway. (880 aa) |
| | DNAH11 | Dynein heavy chain 11, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. (4516 aa) |
| | TTC25 | Tetratricopeptide repeat protein 25; Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility. (672 aa) |
| | RAG2 | V(D)J recombination-activating protein 2; Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T- cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the pho [...] (527 aa) |
| | DNAI1 | Dynein intermediate chain 1, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family. (703 aa) |
| | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling. (1265 aa) |
| | LRRC6 | Protein tilB homolog; May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility. Belongs to the tilB family. (466 aa) |
| | CIITA | MHC class II transactivator; Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirem [...] (1131 aa) |
| | RPGR | X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia. (1152 aa) |
