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COASY

From Wikipedia, the free encyclopedia
COASY
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOASY, DPCK, NBIA6, NBP, PPAT, UKR1, pOV-2, Coenzyme A synthase, PCH12
External IDsOMIM: 609855; MGI: 1918993; HomoloGene: 11889; GeneCards: COASY; OMA:COASY - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001042529
NM_001042530
NM_001042531
NM_001042532
NM_025233

NM_027896
NM_001305982

RefSeq (protein)

NP_001035994
NP_001035997
NP_079509

NP_001292911

Location (UCSC)Chr 17: 42.56 – 42.57 MbChr 11: 100.97 – 100.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bifunctional coenzyme A synthase is an enzyme that in mammals is encoded by the COASY gene that catalyses the synthesis of coenzyme A from 4'-phosphopantetheine.[5][6][7]

Function

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COASY is an enzyme that catalyzes the last two steps in the synthesis of coenzyme A from vitamin B5 (pantothenic acid). The primary substrate is 4'-phosphopantetheine and COASY is a bifunctional enzyme in this pathway:

In mammals this is a single enzyme, but in organisms including yeast and bacteria these enzymes are encoded by separate genes.[8]

Interactions

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COASY has been shown to interact with P70-S6 Kinase 1.[9] In 2009, COASY has also been implicated in PI3K signaling, as it was shown to interact with a regulatory subunit of PI3K.[10]

Clinical significance

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Loss of function mutations to COASY have been associated with an ultra-rare disease that causes neurodegeneration with brain iron accumulation called COASY protein-associated neurodegeneration (CoPAN), or NBIA6.[8][11][12]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000068120Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001755Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Daugherty M, Polanuyer B, Farrell M, Scholle M, Lykidis A, de Crécy-Lagard V, Osterman A (June 2002). "Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics". The Journal of Biological Chemistry. 277 (24): 21431–21439. doi:10.1074/jbc.M201708200. PMID 11923312.
  6. ^ Zhyvoloup A, Nemazanyy I, Babich A, Panasyuk G, Pobigailo N, Vudmaska M, et al. (June 2002). "Molecular cloning of CoA Synthase. The missing link in CoA biosynthesis". The Journal of Biological Chemistry. 277 (25): 22107–22110. doi:10.1074/jbc.C200195200. PMID 11980892.
  7. ^ "Entrez Gene: COASY Coenzyme A synthase".
  8. ^ a b Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, et al. (July 2017). "Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye". American Journal of Medical Genetics. Part A. 173 (7): 1878–1886. doi:10.1002/ajmg.a.38252. PMID 28489334. S2CID 27153945.
  9. ^ Nemazanyy I, Panasyuk G, Zhyvoloup A, Panayotou G, Gout IT, Filonenko V (December 2004). "Specific interaction between S6K1 and CoA synthase: a potential link between the mTOR/S6K pathway, CoA biosynthesis and energy metabolism". FEBS Letters. 578 (3): 357–362. doi:10.1016/j.febslet.2004.10.091. PMID 15589845. S2CID 9916948.
  10. ^ Breus O, Panasyuk G, Gout IT, Filonenko V, Nemazanyy I (August 2009). "CoA synthase is in complex with p85alphaPI3K and affects PI3K signaling pathway". Biochemical and Biophysical Research Communications. 385 (4): 581–585. doi:10.1016/j.bbrc.2009.05.102. PMID 19482007.
  11. ^ van Dijk T, Ferdinandusse S, Ruiter JP, Alders M, Mathijssen IB, Parboosingh JS, et al. (December 2018). "Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis". European Journal of Human Genetics. 26 (12): 1752–1758. doi:10.1038/s41431-018-0233-0. PMC 6244412. PMID 30089828.
  12. ^ "OMIM Entry - #615643 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6". www.omim.org. Retrieved 21 April 2022.
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Further reading

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