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ADCY3 | adenylate cyclase 3; Mediates odorant detection (possibly) via modulation of intracellular cAMP concentration (1144 aa) | |||
TMED2 | transmembrane emp24 domain trafficking protein 2; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act togther with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the [...] (201 aa) | |||
PISD | phosphatidylserine decarboxylase (375 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) | |||
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) | |||
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) | |||
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) | |||
RHOT2 | ras homolog family member T2; Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (By similarity) (618 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) | |||
CAV1 | caveolin 1, caveolae protein, 22kDa; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)- mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3- dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (178 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) | |||
RHOT1 | ras homolog family member T1; Mitochondrial GTPase involved in mitochondrial trafficking (By similarity) (691 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) | |||
NCBP2L | nuclear cap binding protein subunit 2-like (153 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) |