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USH1C | Usher syndrome 1C (autosomal recessive, severe); Required for normal development and maintenance of cochlear hair cell bundles. 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 hearing (By similarity) (899 aa) | |||
BET1 | blocked early in transport 1 homolog (S. cerevisiae); Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity) (118 aa) | |||
USHBP1 | Usher syndrome 1C binding protein 1 (703 aa) | |||
KRT15 | keratin 15 (456 aa) | |||
KANSL1 | KAT8 regulatory NSL complex subunit 1; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription (1105 aa) | |||
NECAB2 | N-terminal EF-hand calcium binding protein 2 (386 aa) | |||
GCC1 | GRIP and coiled-coil domain containing 1; Probably involved in maintaining Golgi structure (775 aa) | |||
ING3 | inhibitor of growth family, member 3 (418 aa) | |||
FBF1 | Fas (TNFRSF6) binding factor 1; Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3 (1133 aa) | |||
SERTAD3 | SERTA domain containing 3; Strong transcriptional coactivator (196 aa) | |||
INPP1 | inositol polyphosphate-1-phosphatase (399 aa) | |||
EXOC1 | exocyst complex component 1; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane (894 aa) | |||
NOC4L | nucleolar complex associated 4 homolog (S. cerevisiae) (516 aa) | |||
HGS | hepatocyte growth factor-regulated tyrosine kinase substrate; Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down- regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (E [...] (777 aa) | |||
EXOC7 | exocyst complex component 7 (735 aa) | |||
ABLIM1 | actin binding LIM protein 1 (778 aa) | |||
NDE1 | nudE nuclear distribution E homolog 1 (A. nidulans); Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative [...] (335 aa) | |||
EXOC8 | exocyst complex component 8; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane (725 aa) | |||
FAM107A | family with sequence similarity 107, member A; When transfected into cell lines in which it is not expressed, suppresses cell growth. May play a role in tumor development (144 aa) | |||
NSL1 | NSL1, MIND kinetochore complex component, homolog (S. cerevisiae); Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis (281 aa) | |||
FANCG | Fanconi anemia, complementation group G; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene (622 aa) | |||
PRC1 | protein regulator of cytokinesis 1; Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle (620 aa) | |||
SMARCD1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1; Involved in chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subuni [...] (515 aa) | |||
CCDC120 | coiled-coil domain containing 120 (661 aa) | |||
C1orf216 | chromosome 1 open reading frame 216 (229 aa) | |||
TUBGCP4 | tubulin, gamma complex associated protein 4; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome (666 aa) |