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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) | |||
PPP1R13B | protein phosphatase 1, regulatory subunit 13B; Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo (1090 aa) | |||
UBE2K | ubiquitin-conjugating enzyme E2K (200 aa) | |||
ATP5O | ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a [...] (213 aa) | |||
CCT3 | chaperonin containing TCP1, subunit 3 (gamma); Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin (545 aa) | |||
MCM7 | minichromosome maintenance complex component 7; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for ’once per cell cycle’ DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute dif [...] (719 aa) | |||
ARNT2 | aryl-hydrocarbon receptor nuclear translocator 2; Specifically recognizes the xenobiotic response element (XRE) (717 aa) | |||
CKS1B | CDC28 protein kinase regulatory subunit 1B; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function (79 aa) | |||
TCHP | trichoplein, keratin filament binding; Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a ’capping’ or ’branching’ protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (498 aa) | |||
MIPOL1 | mirror-image polydactyly 1 (442 aa) | |||
UBC | ubiquitin C (685 aa) | |||
MYLIP | myosin regulatory light chain interacting protein; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol- dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent deg [...] (445 aa) | |||
RBM41 | RNA binding motif protein 41; May bind RNA (Potential) (413 aa) | |||
NEBL | nebulette; Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion (1014 aa) | |||
LATS2 | LATS, large tumor suppressor, homolog 2 (Drosophila); Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation in [...] (1088 aa) | |||
EAF1 | ELL associated factor 1; Acts as a transcriptional transactivator of ELL and ELL2 elongation activities (268 aa) | |||
CCDC33 | coiled-coil domain containing 33 (755 aa) | |||
CDK18 | cyclin-dependent kinase 18; May play a role in signal transduction cascades in terminally differentiated cells (504 aa) | |||
TTC12 | tetratricopeptide repeat domain 12 (705 aa) |