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TDRD1 | tudor domain containing 1 (1189 aa) | |||
REL | v-rel reticuloendotheliosis viral oncogene homolog (avian); Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the i [...] (619 aa) | |||
EFHC2 | EF-hand domain (C-terminal) containing 2 (749 aa) | |||
DOK7 | docking protein 7; Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK (504 aa) | |||
HTT | huntingtin; May play a role in microtubule-mediated transport or vesicle function (3142 aa) | |||
CACNA1E | calcium channel, voltage-dependent, R type, alpha 1E subunit; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the ’high-voltage activated’ (HVA) group and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however ins [...] (2313 aa) | |||
PEX19 | peroxisomal biogenesis factor 19; Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53 (299 aa) | |||
PEX11B | peroxisomal biogenesis factor 11 beta (259 aa) | |||
EFHC1 | EF-hand domain (C-terminal) containing 1; May enhance calcium influx through CACNA1E and stimulate programmed cell death (640 aa) | |||
SELRC1 | Sel1 repeat containing 1 (231 aa) | |||
SRM | spermidine synthase; Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine (302 aa) | |||
ARX | aristaless related homeobox; Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate (562 aa) | |||
CCDC150 | coiled-coil domain containing 150 (1101 aa) | |||
BRAP | BRCA1 associated protein; Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto- polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport (592 aa) |