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ASIC2 | acid-sensing (proton-gated) ion channel 2; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate (563 aa) | |||
ASIC1 | acid-sensing (proton-gated) ion channel 1; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Ca(2+), Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor th [...] (574 aa) | |||
FBXO30 | F-box protein 30; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity) (745 aa) | |||
PISD | phosphatidylserine decarboxylase (375 aa) | |||
CDK2 | cyclin-dependent kinase 2; Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CTNNB1, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, EZH2. Interacts with cyclins A, B1, B3, D, or E. Triggers duplication of centrosomes and DNA. Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and [...] (298 aa) | |||
SPG7 | spastic paraplegia 7 (pure and complicated autosomal recessive); Putative ATP-dependent zinc metalloprotease (795 aa) | |||
AFG3L2 | AFG3 ATPase family member 3-like 2 (S. cerevisiae); ATP-dependent protease which is essential for axonal development (By similarity) (797 aa) | |||
FARS2 | phenylalanyl-tRNA synthetase 2, mitochondrial; Catalyzes direct attachment of p-Tyr (Tyr) to tRNAPhe. Permits also, with a lower efficiency, the attachment of m-Tyr to tRNAPhe, thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins (451 aa) | |||
FBXW7 | F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Involved in the degradation of cyclin-E, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1 (707 aa) | |||
LONP2 | lon peptidase 2, peroxisomal; ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1 (852 aa) | |||
OXA1L | oxidase (cytochrome c) assembly 1-like; Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria (495 aa) | |||
STOM | stomatin; Thought to regulate cation conductance. May regulate ASIC2 and ASIC3 gating (By similarity) (288 aa) | |||
COX18 | cytochrome c oxidase assembly homolog 18 (yeast); Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of the C-terminal part of the COX2 protein into the mitochondrial intermembrane space (333 aa) | |||
ASIC3 | acid-sensing (proton-gated) ion channel 3; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties (549 aa) | |||
XRCC6BP1 | XRCC6 binding protein 1 (246 aa) | |||
ATAD3B | ATPase family, AAA domain containing 3B; May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes (648 aa) | |||
YME1L1 | YME1-like 1 (S. cerevisiae); Putative ATP-dependent protease which plays a role in mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins. Requires to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1). Seems to act in the processing of OPA1 (773 aa) | |||
STOML1 | stomatin (EPB72)-like 1 (398 aa) | |||
NCBP2 | nuclear cap binding protein subunit 2, 20kDa; Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5’ cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5’ end of mRNA and to mRNA export in a 5’ to 3’ direction through the nuclear pore. [...] (156 aa) | |||
SCNN1B | sodium channel, non-voltage-gated 1, beta subunit; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception (640 aa) | |||
BCS1L | BC1 (ubiquinol-cytochrome c reductase) synthesis-like; Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex (419 aa) | |||
LONP1 | lon peptidase 1, mitochondrial; ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single- stranded, site-specific, and strand-specific manner. May regulate mitocho [...] (959 aa) | |||
MT-CO2 | mitochondrially encoded cytochrome c oxidase II; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1 (By similarity) (227 aa) | |||
LRRC47 | leucine rich repeat containing 47 (583 aa) | |||
STOML3 | stomatin (EPB72)-like 3 (291 aa) | |||
TRIAP1 | TP53 regulated inhibitor of apoptosis 1; Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (76 aa) |