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| UBR7 | Putative E3 ubiquitin-protein ligase UBR7; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (425 aa) | |||
| HEXB | Beta-hexosaminidase subunit beta; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues; Belongs to the glycosyl hydrolase 20 family (556 aa) | |||
| IPO5 | Importin-5; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] (1115 aa) | |||
| HEXA | Beta-hexosaminidase subunit alpha; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity; Belongs to the glycosyl hydrolase 20 family (529 aa) | |||
| SOD1 | Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems (154 aa) | |||
| EIF2D | Eukaryotic translation initiation factor 2D; Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P- site of the 40S subunit. In addition to its [...] (584 aa) | |||
| TATDN1 | Putative deoxyribonuclease TATDN1; Putative deoxyribonuclease; Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family (297 aa) | |||
| GRAP | GRB2-related adapter protein; Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway; SH2 domain containing (217 aa) | |||
| SMC2 | Structural maintenance of chromosomes protein 2; Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases; Belongs to the SMC family. SMC2 subfamily (1197 aa) | |||
| HK2 | Hexokinase-2; Hexokinase 2; Belongs to the hexokinase family (917 aa) | |||
| SMC1A | Structural maintenance of chromosomes protein 1A; Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interacti [...] (1233 aa) | |||
| GRAP2 | GRB2-related adapter protein 2; Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc; SH2 domain containing (330 aa) | |||
| RPL22 | Ribosomal protein L22; Belongs to the eukaryotic ribosomal protein eL22 family (128 aa) | |||
| SMC4 | Structural maintenance of chromosomes protein 4; Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases (1288 aa) | |||
| SMC1B | Structural maintenance of chromosomes protein 1B; Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, t [...] (1235 aa) | |||
| SMC3 | Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement (1217 aa) | |||
| SMC5 | Structural maintenance of chromosomes protein 5; Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies ( [...] (1101 aa) | |||
| GTF3C4 | General transcription factor 3C polypeptide 4; Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin. Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3. May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F. May be localized close to the A box; Belongs to the TFIIIC subunit 4 family (822 aa) | |||
| ALDH1B1 | Aldehyde dehydrogenase X, mitochondrial; ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (517 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) | |||
| NAPRT | Nicotinate phosphoribosyltransferase; Catalyzes the conversion of nicotinic acid (NA) to NA mononucleotide (NaMN). Essential for NA to increase cellular NAD levels and prevent oxidative stress of the cells; Belongs to the NAPRTase family (538 aa) | |||
| SMC6 | Structural maintenance of chromosomes protein 6; Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Req [...] (1091 aa) | |||
| STIM2 | Stromal interaction molecule 2; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRA [...] (754 aa) | |||
| GRAPL | GRB2-related adapter protein-like; GRB2 related adaptor protein like; SH2 domain containing (118 aa) | |||
| STIM1 | Stromal interaction molecule 1; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit ORAI1. Involved in enamel formation. Activated following interaction with STIMATE, leading to promote STIM1 conformational switch; Sterile alpha motif domain containing (791 aa) | |||
| ACSF3 | Acyl-CoA synthetase family member 3, mitochondrial; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates; Acyl-CoA synthetase family (576 aa) | |||
