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| CDC6 | Cell division control protein 6 homolog; Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated (560 aa) | |||
| HSCB | Iron-sulfur cluster co-chaperone protein HscB, mitochondrial; Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria; Belongs to the HscB family (235 aa) | |||
| PSMA2 | Proteasome subunit alpha type-2; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] (234 aa) | |||
| COX6B1 | Cytochrome c oxidase subunit 6B1; Connects the two COX monomers into the physiological dimeric form; Mitochondrial complex IV- cytochrome c oxidase subunits (86 aa) | |||
| COQ9 | Ubiquinone biosynthesis protein COQ9, mitochondrial; Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7 (318 aa) | |||
| ESYT1 | Extended synaptotagmin-1; Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane; Belongs to the extended synaptotagmin family (1114 aa) | |||
| SPG7 | Paraplegin; ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function; In the N-terminal section; belongs to the AAA ATPase family (795 aa) | |||
| AFG3L2 | AFG3-like protein 2; ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity); In the N-terminal section; belongs to the AAA ATPase family (797 aa) | |||
| WBSCR27 | Methyltransferase-like protein 27; Williams Beuren syndrome chromosome region 27 (245 aa) | |||
| DCAKD | dephospho-CoA kinase domain containing (231 aa) | |||
| PRMT9 | Protein arginine N-methyltransferase 9; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N- methyltransferase family (845 aa) | |||
| YME1L1 | ATP-dependent zinc metalloprotease YME1L1; ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region. Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects [...] (773 aa) | |||
| IMPDH2 | Inosine-5’-monophosphate dehydrogenase 2; Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors (514 aa) | |||
| SRPR | Signal recognition particle receptor subunit alpha; 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 (638 aa) | |||
| PPCDC | Phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4’- phosphopantotheine (204 aa) | |||
| IMPDH1 | Inosine-5’-monophosphate dehydrogenase 1; Catalyzes the conversion of inosine 5’-phosphate (IMP) to xanthosine 5’-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors; Belongs to the IMPDH/GMPR family (599 aa) | |||
| PTPN5 | Tyrosine-protein phosphatase non-receptor type 5; May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors; Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily (565 aa) | |||
| COMT | Catechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol; Seven-beta-strand methyltransferase motif containing (271 aa) | |||
| UST | Uronyl 2-sulfotransferase; Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N-resulfated heparin; Sulfotransferases, membrane bound (406 aa) | |||
| ORC1 | Origin recognition complex subunit 1; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication; Belongs to the ORC1 family (861 aa) | |||
| PPCS | Phosphopantothenate--cysteine ligase; Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4’- phosphopantothenate to form 4-phosphopantothenoylcysteine; Belongs to the PPC synthetase family (311 aa) | |||
| RDH11 | Retinol dehydrogenase 11; Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected (318 aa) | |||
| TMX1 | Thioredoxin-related transmembrane protein 1; May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions; Protein disulfide isomerases (280 aa) | |||
| WBSCR22 | Probable 18S rRNA (guanine-N(7))-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA. Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivat [...] (298 aa) | |||
| COASY | Bifunctional coenzyme A synthase; Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation; In the central section; belongs to the eukaryotic CoaD family (593 aa) | |||
| APBB1 | Amyloid-beta A4 precursor protein-binding family B member 1; Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on ’Tyr-142’ (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro- apoptosis factors such as MAPK8/JNK [...] (710 aa) | |||
