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Ift88 | Intraflagellar transport protein 88 homolog; Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment. (825 aa) | ||||
Cdh23 | Cadherin-23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. (3352 aa) | ||||
Mkks | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (By similarity). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (By similarity). (570 aa) | ||||
Elmod3 | ELMO domain-containing protein 3; Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity. (381 aa) | ||||
Rac1 | Ras-related C3 botulinum toxin substrate 1; Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity [...] (211 aa) | ||||
Kncn | Kinocilin; May play a role in stabilizing dense microtubular networks or in vesicular trafficking. (124 aa) | ||||
Ift20 | Intraflagellar transport protein 20 homolog; Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium. Regulates the ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling. Essential for male fertility. Plays an important role in spermatogenesis, particular [...] (132 aa) | ||||
Grxcr1 | Glutaredoxin domain-containing cysteine-rich protein 1; May play a role in actin filament architecture in developing stereocilia of sensory cells; Belongs to the GRXCR1 family. (296 aa) | ||||
Cdc14a | Dual specificity protein phosphatase CDC14A; Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis (By similarity). Required for normal hearing. (603 aa) | ||||
Dcdc2a | Doublecortin domain-containing protein 2; Protein that plays a role in the inhibition of canonical Wnt signaling pathway (By similarity). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (By similarity). (475 aa) | ||||
Strc | Stereocilin; Essential to the formation of horizontal top connectors between outer hair cell stereocilia. (1809 aa) | ||||
Rsph9 | Radial spoke head protein 9 homolog; Probable component of the axonemal radial spoke head (By similarity). 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. (276 aa) | ||||
Tiam1 | T-lymphoma invasion and metastasis-inducing protein 1; Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Activates RAC1, CDC42, and to a lesser extent RHOA. Required for normal cell adhesion and cell migration (By similarity). Affects invasiveness of T-lymphoma cells. Belongs to the TIAM family. (1591 aa) |