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UHRF1BP1 | UHRF1-binding protein 1; May act as a negative regulator of cell growth (1440 aa) | |||
LEPRE1 | Prolyl 3-hydroxylase 1; Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts (804 aa) | |||
SLX1A | SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae); Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5’-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products (275 aa) | |||
RABGAP1L | Rab GTPase-activating protein 1-like; GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A- GDP. Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous dir [...] (815 aa) | |||
SNAP25 | Synaptosomal-associated protein 25; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells; SNAREs (206 aa) | |||
CDR2 | Cerebellar degeneration related protein 2 (454 aa) | |||
MRFAP1 | Morf4 family associated protein 1 (127 aa) | |||
OPA3 | Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); OPA3, outer mitochondrial membrane lipid metabolism regulator (180 aa) | |||
YARS2 | Tyrosine--tRNA ligase, mitochondrial; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction- tyrosine is first activated by ATP to form Tyr- AMP and then transferred to the acceptor end of tRNA(Tyr); Belongs to the class-I aminoacyl-tRNA synthetase family (477 aa) | |||
NDUFA4 | Cytochrome c oxidase subunit NDUFA4; Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance (81 aa) | |||
C15orf48 | Normal mucosa of esophagus-specific gene 1 protein; Chromosome 15 open reading frame 48; Belongs to the complex I NDUFA4 subunit family (83 aa) | |||
NDUFAF4 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; Involved in the assembly of mitochondrial NADH-ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion (175 aa) | |||
TRUB2 | Mitochondrial mRNA pseudouridine synthase TRUB2; Minor enzyme contributing to the conversion of uridine to pseudouridine (PSI) at position 390 in mitochondrial COXI (MT- CO1) mRNA and at position 697-699 in mitochondrial COXIII (MT-CO3) mRNA, modulating the efficiency of mitochondrial protein synthesis without changes in transcript abundance or stability (331 aa) | |||
UQCC1 | Ubiquinol-cytochrome-c reductase complex assembly factor 1; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability; Belongs to the CBP3 family (299 aa) | |||
OCIAD1 | OCIA domain-containing protein 1; Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer; Belongs to the OCIAD1 family (245 aa) | |||
GRB2 | Growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway; SH2 domain containing (217 aa) | |||
PDK1 | [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protect [...] (456 aa) | |||
CHCHD2 | Coiled-coil-helix-coiled-coil-helix domain-containing protein 2; Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen); Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins (151 aa) | |||
C17orf89 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8; Involved in the assembly of mitochondrial NADH-ubiquinone oxidoreductase complex (complex I, MT-ND1). Required to stabilize NDUFAF5 (74 aa) | |||
COX20 | Cytochrome c oxidase protein 20 homolog; Mitochondrial respiratory chain complex assembly factors; Belongs to the COX20 family (118 aa) | |||
TM2D2 | TM2 domain containing 2 (214 aa) | |||
LPPR2 | Lipid phosphate phosphatase-related protein type 2 (427 aa) | |||
UQCC2 | Ubiquinol-cytochrome-c reductase complex assembly factor 2; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability (126 aa) | |||
WBSCR16 | RCC1-like G exchanging factor-like protein; Williams-Beuren syndrome chromosome region 16 (464 aa) | |||
CISD3 | CDGSH iron-sulfur domain-containing protein 3, mitochondrial; CDGSH iron sulfur domain containing; Belongs to the CISD protein family (127 aa) |