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Phosphoglycerate dehydrogenase

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Identifiers
SymbolsPHGDH ; 3-PGDH; 3PGDH; HEL-S-113; NLS; PDG; PGAD; PGD; PGDH; PHGDHD; SERA
External IDsOMIM606879 MGI1355330 HomoloGene39318 GeneCards: PHGDH Gene
EC number1.1.1.95
RNA expression pattern
File:PBB GE PHGDH 201397 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez26227236539
EnsemblENSG00000092621ENSMUSG00000053398
UniProtO43175Q61753
RefSeq (mRNA)NM_006623NM_016966
RefSeq (protein)NP_006614NP_058662
Location (UCSC)Chr 1:
120.2 – 120.29 Mb
Chr 3:
98.31 – 98.34 Mb
PubMed search[1][2]
phosphoglycerate dehydrogenase
Identifiers
EC number 1.1.1.95
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum

In enzymology, a D-3-phosphoglycerate dehydrogenase (EC 1.1.1.95) is an enzyme that catalyzes the chemical reactions

3-phospho-D-glycerate + NAD+ <math>\rightleftharpoons</math> 3-phosphonooxypyruvate + NADH + H+
2-hydroxyglutarate + NAD+ <math>\rightleftharpoons</math> 2-oxoglutarate + NADH + H+

Thus, in the first case, the two substrates of this enzyme are 3-phospho-D-glycerate and NAD+, whereas its 3 products are 3-phosphohydroxypyruvate, NADH, and H+; in the second case, the two substrates of this enzyme are 2-hydroxyglutarate and NAD+, whereas its 3 products are 2-oxoglutarate, NADH, and H+.

This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor.

In humans, this enzyme is encoded by the PHGDH 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.[1] Certain breast cancers are dependent on the overexpression of PHGDH.[2]

Clinical aspect

Homozygous or compound heterozygous mutations in PHGDH cause Neu-Laxova syndrome[3][4] and Phosphoglycerate dehydrogenase deficiency.[5]

References

  1. ^ a b "Entrez Gene: PHGDH phosphoglycerate dehydrogenase". 
  2. ^ Possemato, Richard; Marks, Kevin M., Shaul, Yoav D., Pacold, Michael E., Kim, Dohoon, Birsoy, Kıvanç, Sethumadhavan, Shalini, Woo, Hin-Koon, Jang, Hyun G., Jha, Abhishek K., Chen, Walter W., Barrett, Francesca G., Stransky, Nicolas, Tsun, Zhi-Yang, Cowley, Glenn S., Barretina, Jordi, Kalaany, Nada Y., Hsu, Peggy P., Ottina, Kathleen, Chan, Albert M., Yuan, Bingbing, Garraway, Levi A., Root, David E., Mino-Kenudson, Mari, Brachtel, Elena F., Driggers, Edward M., Sabatini, David M. (17 August 2011). "Functional genomics reveal that the serine synthesis pathway is essential in breast cancer". Nature 476 (7360): 346–350. doi:10.1038/nature10350. 
  3. ^ Shaheen, Ranad; Rahbeeni Zuhair, Alhashem Amal, Faqeih Eissa, Zhao Qi, Xiong Yong, Almoisheer Agaadir, Al-Qattan Sarah M., Almadani Halima A., Al-Onazi Noufa, Al-Baqawi Badi S., Saleh Mohammad Ali, Alkuraya Fowzan S. (June 2014). "Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH". American Journal of Human Genetics 94 (6): 898–904. doi:10.1016/j.ajhg.2014.04.015. 
  4. ^ Acuna-Hidalgo, Rocio; Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. (September 2014). "Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway". American Journal of Human Genetics 95 (3): 285–293. doi:10.1016/j.ajhg.2014.07.012. 
  5. ^ Jaeken, J; Detheux M; Van Maldergem L; Foulon M; Carchon H; Van Schaftingen E (June 1996). "3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis". Arch Dis Child 74 (6): 542–545. PMC 1511571. PMID 8758134. doi:10.1136/adc.74.6.542. 

Further reading

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