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| MRPS35 | Mitochondrial ribosomal protein S35 (323 aa) | |||
| GCLC | Glutamate-cysteine ligase catalytic subunit (637 aa) | |||
| ATAD2B | ATPase family, AAA domain containing 2B (1458 aa) | |||
| PARP12 | poly(ADP-ribose) polymerase family member 12 (701 aa) | |||
| TRPV5 | Transient receptor potential cation channel subfamily V member 5; Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 hete [...] (729 aa) | |||
| SORD | Sorbitol dehydrogenase; Converts sorbitol to fructose. Part of the polyol pathway that plays an important role in sperm physiology. May play a role in the sperm motility by providing an energetic source for sperm; Belongs to the zinc-containing alcohol dehydrogenase family (357 aa) | |||
| GALM | Aldose 1-epimerase; Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity) (342 aa) | |||
| GPD1L | Glycerol-3-phosphate dehydrogenase 1-like protein; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L (351 aa) | |||
| GPD1 | Glycerol-3-phosphate dehydrogenase 1; Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family (349 aa) | |||
| CKS1B | Cyclin-dependent kinases regulatory subunit 1; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function (79 aa) | |||
| GNAI2 | Guanine nucleotide-binding protein G(i) subunit alpha-2; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase- they inhibit the cyclase in response to beta-adrenergic stimuli. May play a role in cell division (355 aa) | |||
| PEX7 | Peroxisomal targeting signal 2 receptor; Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import; Belongs to the WD repeat peroxin-7 family (323 aa) | |||
| PPCDC | Phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4’- phosphopantotheine (204 aa) | |||
| DNA2 | DNA replication ATP-dependent helicase/nuclease DNA2; Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1- flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5’-end resection of DNA during double- strand break (DSB) repair- recruited by BLM and mediates the cleavage of 5’-ssDNA, while the 3’-ssDNA cleava [...] (1060 aa) | |||
| OSGIN1 | Oxidative stress-induced growth inhibitor 1; Regulates the differentiation and proliferation of normal cells through the regulation of cell death; Belongs to the OKL38 family (477 aa) | |||
| GLRX3 | Glutaredoxin-3; Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins. Acts as a critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). Required for hemoglobin maturation. Does not possess any thyoredoxin activity since it lacks the conserved motif that is essential for catalytic activity; Glutaredoxin domain containing (335 aa) | |||
| UROS | Uroporphyrinogen-III synthase; Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme) (265 aa) | |||
| GCLM | Glutamate-cysteine ligase modifier subunit; Belongs to the aldo/keto reductase family. Glutamate-- cysteine ligase light chain subfamily (274 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) | |||
| CKS2 | Cyclin-dependent kinases regulatory subunit 2; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function (79 aa) | |||
| GALT | Galactose-1-phosphate uridylyltransferase; Plays an important role in galactose metabolism (379 aa) | |||
| PRKCA | Protein kinase C alpha type; Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell [...] (672 aa) | |||
| ENSG00000258728 | Uncharacterized protein (280 aa) | |||
| CPNE3 | Copine-3; Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation; Belongs to the copine family (537 aa) | |||
| NAGK | N-acetyl-D-glucosamine kinase; Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway- although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity (390 aa) | |||
| GALE | UDP-glucose 4-epimerase; Catalyzes two distinct but analogous reactions- the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6- phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP- GalNAc when exogenous sources are limited. Both UDP-sugar interconver [...] (348 aa) | |||
