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PPIF | peptidylprolyl isomerase F; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probablity of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved in activating oxidative stress- i [...] (207 aa) | |||
SBDS | Shwachman-Bodian-Diamond syndrome; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prol [...] (250 aa) | |||
SUGP1 | SURP and G patch domain containing 1; Plays a role in pre-mRNA splicing (645 aa) | |||
TOMM40 | translocase of outer mitochondrial membrane 40 homolog (yeast); Channel-forming protein essential for import of protein precursors into mitochondria (By similarity) (361 aa) | |||
SCO2 | SCO2 cytochrome c oxidase assembly protein; Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2) (266 aa) | |||
RBM27 | RNA binding motif protein 27 (1060 aa) | |||
VDAC1 | voltage-dependent anion channel 1; Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective. May participate in the formation of the permeability transition pore complex (PTPC) [...] (283 aa) | |||
THY1 | Thy-1 cell surface antigen; May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain (161 aa) | |||
EIF4A1 | eukaryotic translation initiation factor 4A1; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5’-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon (406 aa) | |||
C17orf61 | chromosome 17 open reading frame 61 (113 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) | |||
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) | |||
ACAA1 | acetyl-CoA acyltransferase 1 (424 aa) | |||
SARNP | SAP domain containing ribonucleoprotein; Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single- stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis (210 aa) | |||
HSPD1 | heat shock 60kDa protein 1 (chaperonin); Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (573 aa) | |||
UBC | ubiquitin C (685 aa) | |||
VAPA | VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa; May play a role in vesicle trafficking (294 aa) | |||
ATP6V1H | ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes (483 aa) | |||
PARK2 | parkinson protein 2, E3 ubiquitin protein ligase (parkin) (465 aa) | |||
TOMM40L | translocase of outer mitochondrial membrane 40 homolog (yeast)-like; Potential channel-forming protein implicated in import of protein precursors into mitochondria (By similarity) (308 aa) | |||
SCP2 | sterol carrier protein 2; Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis (547 aa) | |||
VDAC2 | voltage-dependent anion channel 2; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation- selective (309 aa) | |||
ABCC1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (1531 aa) | |||
UBA52 | ubiquitin A-52 residue ribosomal protein fusion product 1 (128 aa) | |||
SRPRB | signal recognition particle receptor, B subunit; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity) (271 aa) | |||
VDAC3 | voltage-dependent anion channel 3; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity) (284 aa) |