Phosphoglycerate dehydrogenase

From Wikipedia, the free encyclopedia

PDB rendering based on 2g76.

Available structures: 2g76

Identifiers

Symbol(s)

PHGDH; PGDH; PGD; 3-PGDH; 3PGDH; MGC3017; PDG; PGAD; SERA

External IDs

OMIM: 606879 MGI: 1355330 HomoloGene: 39318

Gene ontology
Molecular Function:	• phosphoglycerate dehydrogenase activity • transporter activity • electron carrier activity • oxidoreductase activity • oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor • NAD binding
Cellular Component:	• extracellular region
Biological Process:	• L-serine biosynthetic process • transport • brain development • metabolic process • amino acid biosynthetic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_006623 (mRNA)
NP_006614 (protein)

XM_001005889 (mRNA)
XP_001005889 (protein)

Location

Chr 1: 120.06 - 120.09 Mb

n/a

Pubmed search

[1]

[2]

Phosphoglycerate dehydrogenase, also known as PHGDH, is a human gene.^[1]

3-Phosphoglycerate dehydrogenase (PHGDH; EC 1.1.1.95) catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the first and rate-limiting step in the phosphorylated pathway of serine biosynthesis, using NAD+/NADH as a cofactor.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: PHGDH phosphoglycerate dehydrogenase.

[edit] Further reading

Tsang HT, Connell JW, Brown SE, et al. (2006). "A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.". Genomics 88 (3): 333-46. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315-21. doi:10.1038/nature04727. PMID 16710414.
Guo D, Han J, Adam BL, et al. (2005). "Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress.". Biochem. Biophys. Res. Commun. 337 (4): 1308-18. doi:10.1016/j.bbrc.2005.09.191. PMID 16236267.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Pind S, Slominski E, Mauthe J, et al. (2002). "V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.". J. Biol. Chem. 277 (9): 7136-43. doi:10.1074/jbc.M111419200. PMID 11751922.
Klomp LW, de Koning TJ, Malingré HE, et al. (2001). "Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.". Am. J. Hum. Genet. 67 (6): 1389-99. PMID 11055895.
Pineda M, Vilaseca MA, Artuch R, et al. (2000). "3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.". Developmental medicine and child neurology 42 (9): 629-33. PMID 11034457.
Baek JY, Jun DY, Taub D, Kim YH (2000). "Assignment of human 3-phosphoglycerate dehydrogenase (PHGDH) to human chromosome band 1p12 by fluorescence in situ hybridization.". Cytogenet. Cell Genet. 89 (1-2): 6-7. PMID 10894924.
Cho HM, Jun DY, Bae MA, et al. (2000). "Nucleotide sequence and differential expression of the human 3-phosphoglycerate dehydrogenase gene.". Gene 245 (1): 193-201. PMID 10713460.
Jaeken J, Detheux M, Van Maldergem L, et al. (1996). "3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.". Arch. Dis. Child. 74 (6): 542-5. PMID 8758134.