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| USH1C | Harmonin; Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips; Deafness associated genes (899 aa) | |||
| SKP1 | S-phase kinase-associated protein 1; Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC [...] (163 aa) | |||
| PDZD11 | PDZ domain containing 11 (140 aa) | |||
| SYNJ2BP | Synaptojanin-2-binding protein; Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction; PDZ domain containing (145 aa) | |||
| SLC9A3R1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of [...] (358 aa) | |||
| LNX1 | E3 ubiquitin-protein ligase LNX; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65; PDZ domain containing (728 aa) | |||
| CYTIP | Cytohesin-interacting protein; By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm; PDZ domain containing (359 aa) | |||
| STOM | Erythrocyte band 7 integral membrane protein; Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity; Belongs to the band 7/mec-2 family (288 aa) | |||
| GRASP | General receptor for phosphoinositides 1-associated scaffold protein; Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses; PDZ domain containing (395 aa) | |||
| IL16 | Pro-interleukin-16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4; Interleukins (1332 aa) | |||
| LNX2 | Ligand of numb-protein X 2; PDZ domain containing (690 aa) | |||
| LYSMD4 | LysM and putative peptidoglycan-binding domain-containing protein 4; LysM domain containing 4 (297 aa) | |||
| PDZD3 | Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions; PDZ domain containing (505 aa) | |||
| STOML2 | Stomatin-like protein 2, mitochondrial; Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. M [...] (356 aa) | |||
| PARD3B | Partitioning defective 3 homolog B; Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions; Belongs to the PAR3 family (1143 aa) | |||
| DFNB31 | Whirlin; Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (907 aa) | |||
| NPHS2 | Podocin; Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton (383 aa) | |||
| GOPC | Golgi-associated PDZ and coiled-coil motif-containing protein; Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes; PDZ domain containing (462 aa) | |||
| INADL | InaD-like protein; Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane. May regulate protein targeting, cell polarity and integrity of tight junctions. May regulate the surface expression and/or function of ASIC3 in sensory neurons. May recruit ARHGEF18 to apical cell-cell boundaries (1801 aa) | |||
| FRMPD2 | FERM and PDZ domain-containing protein 2; May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2); FERM domain containing (1309 aa) | |||
| NINJ1 | Ninjurin-1; Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. Cell adhesion requires divalent cations (152 aa) | |||
| STOML3 | Stomatin-like protein 3; Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations (291 aa) | |||
| ENSG00000272772 | Uncharacterized protein; Belongs to the SKP1 family (91 aa) | |||
| PHB2 | Prohibitin-2; Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging (299 aa) | |||
| STOML1 | Stomatin-like protein 1; May play a role in cholesterol transfer to late endosomes. May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation; Belongs to the band 7/mec-2 family (398 aa) | |||
| PHB | Prohibitin; Prohibitin inhibits DNA synthesis. It has a role in regulating proliferation. As yet it is unclear if the protein or the mRNA exhibits this effect. May play a role in regulating mitochondrial respiration activity and in aging (272 aa) | |||
