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DHODH | Dihydroorotate dehydrogenase (quinone), mitochondrial; Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor (395 aa) | |||
OGDH | 2-oxoglutarate dehydrogenase, mitochondrial; The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components- 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (1023 aa) | |||
SETX | Probable helicase senataxin; Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA a [...] (2677 aa) | |||
VAC14 | Protein VAC14 homolog; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes; Belongs to the VAC14 family (782 aa) | |||
TIPIN | TIMELESS-interacting protein; Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Important for cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic st [...] (301 aa) | |||
SDHA | Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor; Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily (664 aa) | |||
SLC2A13 | Proton myo-inositol cotransporter; H(+)-myo-inositol cotransporter. Can also transport related stereoisomers; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family (648 aa) | |||
OXNAD1 | Oxidoreductase NAD-binding domain-containing protein 1; Oxidoreductase NAD binding domain containing 1 (312 aa) | |||
LRGUK | Leucine-rich repeat and guanylate kinase domain-containing protein; Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis; Cilia and flagella associated (825 aa) | |||
SCAF4 | Splicing factor, arginine/serine-rich 15; May act to physically and functionally link transcription and pre-mRNA processing; Belongs to the splicing factor SR family (1147 aa) | |||
MAGI3 | Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3; Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes. Cooperates with PTEN to modulate the kinase activity of AKT1. Its interaction with PTPRB and tyrosine phosphorylated proteins suggests that it may link receptor tyrosine phosphatase with its substrates at the plasma membrane. In polarized epithelial cells, involved in efficient trafficking of TGFA to the cell surface. Regulates the ability of LPAR2 to activate ERK and RhoA pathways. Regulates the [...] (1481 aa) | |||
GMPPB | Mannose-1-phosphate guanyltransferase beta; Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids; Belongs to the transferase hexapeptide repeat family (387 aa) | |||
NDUFS8 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone; NADH-ubiquinone oxidoreductase core subunits (210 aa) | |||
CYC1 | Cytochrome c1, heme protein, mitochondrial; This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain; Apoptosome (325 aa) | |||
CYB5R3 | NADH-cytochrome b5 reductase 3; Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (334 aa) | |||
GUK1 | Guanylate kinase; Essential for recycling GMP and indirectly, cGMP (241 aa) | |||
CYB5R1 | NADH-cytochrome b5 reductase 1; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family (305 aa) | |||
CYB5R4 | Cytochrome b5 reductase 4; NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin (521 aa) | |||
PLP2 | Proteolipid protein 2; May play a role in cell differentiation in the intestinal epithelium (152 aa) | |||
ATP5A1 | ATP synthase subunit alpha, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the [...] (553 aa) | |||
SCAF8 | Protein SCAF8; May play a role in mRNA processing; RNA binding motif containing (1349 aa) | |||
FDXR | NADPH-adrenodoxin oxidoreductase, mitochondrial; Serves as the first electron transfer protein in all the mitochondrial P450 systems. Including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver; Belongs to the ferredoxin--NADP reductase type 1 family (534 aa) | |||
SSBP1 | Single-stranded DNA-binding protein, mitochondrial; This protein binds preferentially and cooperatively to ss-DNA. Probably involved in mitochondrial DNA replication. Associates with mitochondrial DNA (148 aa) | |||
CYB5RL | NADH-cytochrome b5 reductase-like; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family (315 aa) | |||
CYB5R2 | NADH-cytochrome b5 reductase 2; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4- disulfophenyl]-2H tetrazolium monosodium salt (WST-1); Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family (276 aa) | |||
FKBP8 | Peptidyl-prolyl cis-trans isomerase FKBP8; Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis; FKBP prolyl isomerases (413 aa) |