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NANS | N-acetylneuraminic acid synthase; Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3- deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N- acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively (359 aa) | |||
GFPT2 | glutamine-fructose-6-phosphate transaminase 2; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins (682 aa) | |||
NPL | N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase); Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. 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 (By similarity) (320 aa) | |||
HEXB | hexosaminidase B (beta polypeptide); Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues (556 aa) | |||
HEXA | hexosaminidase A (alpha polypeptide); 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 (529 aa) | |||
REN | renin; Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney (406 aa) | |||
PGM2L1 | phosphoglucomutase 2-like 1; Glucose 1,6-bisphosphate synthase using 1,3- bisphosphoglycerate as a phosphate donor and a series of 1- phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1- phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5- bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities (622 aa) | |||
TALDO1 | transaldolase 1; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway (By similarity) (337 aa) | |||
CHIA | chitinase, acidic (476 aa) | |||
GFPT1 | glutamine--fructose-6-phosphate transaminase 1; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins (681 aa) | |||
CHIT1 | chitinase 1 (chitotriosidase) (466 aa) | |||
HOGA1 | 4-hydroxy-2-oxoglutarate aldolase 1; Catalyzes the final step in the metabolic pathway of hydroxyproline (Probable) (327 aa) | |||
ZBED1 | zinc finger, BED-type containing 1; Binds to 5’-TGTCG[CT]GA[CT]A-3’ DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity (694 aa) | |||
PGM2 | phosphoglucomutase 2; Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity (612 aa) | |||
RENBP | renin binding protein; Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. 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 (427 aa) | |||
GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (753 aa) | |||
NAGK | N-acetylglucosamine 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) | |||
HDHD1 | haloacid dehalogenase-like hydrolase domain containing 1; Dephosphorylates pseudouridine 5’-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine (251 aa) | |||
GPI | glucose-6-phosphate isomerase; Besides it’s role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons (569 aa) | |||
PGM3 | phosphoglucomutase 3 (570 aa) | |||
ENSG00000266953 | Uncharacterized protein (209 aa) |