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C12orf5 | chromosome 12 open reading frame 5; Fructose-bisphosphatase hydrolyzing fructose-2,6- bisphosphate as well as fructose-1,6-bisphosphate. Inhibits glycolysis by reducing cellular levels of fructose-2,6- bisphosphate. May protect cells against reactive oxygen species and against apoptosis induced by tp53 (270 aa) | |||
CHMP4B | charged multivesicular body protein 4B; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] (224 aa) | |||
MMP2 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase); Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative s [...] (660 aa) | |||
PFKFB4 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4; Synthesis and degradation of fructose 2,6-bisphosphate (469 aa) | |||
MYBPH | myosin binding protein H; Binds to myosin; probably involved in interaction with thick myofilaments in the A-band (477 aa) | |||
PREPL | prolyl endopeptidase-like (727 aa) | |||
RASA1 | RAS p21 protein activator (GTPase activating protein) 1; Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1 (1047 aa) | |||
BRAF | v-raf murine sarcoma viral oncogene homolog B1 (766 aa) | |||
CHMP4C | charged multivesicular body protein 4C; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] (233 aa) | |||
PSMC3 | proteasome (prosome, macropain) 26S subunit, ATPase, 3; The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex (By similarity). In case of HIV-1 infection, suppresses Tat-mediated transactivation (439 aa) | |||
PRKCE | protein kinase C, epsilon; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITG [...] (737 aa) | |||
NECAB2 | N-terminal EF-hand calcium binding protein 2 (386 aa) | |||
PSMD1 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (953 aa) | |||
FLNC | filamin C, gamma; Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers (2725 aa) | |||
KRT26 | keratin 26 (468 aa) | |||
PPCDC | phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4’- phosphopantotheine (204 aa) | |||
TTN | titin (33423 aa) | |||
OSGIN1 | oxidative stress induced growth inhibitor 1; Regulates the differentiation and proliferation of normal cells through the regulation of cell death (477 aa) | |||
PFKFB2 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2; Synthesis and degradation of fructose 2,6-bisphosphate (505 aa) | |||
PFKFB1 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1; Synthesis and degradation of fructose 2,6-bisphosphate (471 aa) | |||
PFKFB3 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3; Synthesis and degradation of fructose 2,6-bisphosphate (520 aa) | |||
CAPN3 | calpain 3, (p94); Calcium-regulated non-lysosomal thiol-protease (821 aa) | |||
MAP3K1 | mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase; Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (1512 aa) | |||
DYSF | dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (2119 aa) | |||
RPS6KA2 | ribosomal protein S6 kinase, 90kDa, polypeptide 2; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells (741 aa) | |||
HMP70 | Transmembrane 9 superfamily member 1 ; Plays an essential role in autophagy (815 aa) |