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COASY
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2F6R
Identifiers
Aliases	COASY, DPCK, NBIA6, NBP, PPAT, UKR1, pOV-2, Coenzyme A synthase, PCH12
External IDs	OMIM: 609855; MGI: 1918993; HomoloGene: 11889; GeneCards: COASY; OMA:COASY - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q21.2 Start 42,561,467 bp End 42,566,277 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 D Start 100,973,391 bp End 100,977,445 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon parotid gland body of pancreas right adrenal cortex right lobe of liver left adrenal gland left adrenal cortex right lobe of thyroid gland body of stomach left lobe of thyroid gland Top expressed in right kidney proximal tubule human kidney left lobe of liver brown adipose tissue external carotid artery internal carotid artery supraoptic nucleus lacrimal gland tunica adventitia of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding nucleotidyltransferase activity kinase activity protein binding catalytic activity ATP binding pantetheine-phosphate adenylyltransferase activity dephospho-CoA kinase activity Cellular component mitochondrial outer membrane mitochondrial matrix mitochondrion extracellular exosome cytoplasm nucleoplasm cytosol Biological process phosphorylation biosynthesis coenzyme A biosynthetic process metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 80347 71743 Ensembl ENSG00000068120 ENSMUSG00000001755 UniProt Q13057 Q9DBL7 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 Mb Chr 11: 100.97 – 100.98 Mb PubMed search
Wikidata
View/Edit Human View/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.

Function

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:

• 4′-Phosphopantetheine is adenylated to form dephospho-CoA by the enzyme phosphopantetheine adenylyl-transferase (PPAT; CoaD)
• Next, dephospho-CoA is phosphorylated to coenzyme A by the enzyme dephospho-CoA kinase (DPCK; CoaE)

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

Interactions

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

Clinical significance

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000068120 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000001755 – Ensembl, 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. ^ 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.

External links

• Human COASY genome location and COASY gene details page in the UCSC Genome Browser.
• Human PPAT genome location and PPAT gene details page in the UCSC Genome Browser.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Montagna M, Serova O, Sylla BS, Feunteun J, Lenoir GM (November 1995). "A 100-kb physical and transcriptional map around the EDH17B2 gene: identification of three novel genes and a pseudogene of a human homologue of the rat PRL-1 tyrosine phosphatase". Human Genetics. 96 (5): 532–538. doi:10.1007/bf00197407. PMID 8529999. S2CID 24567366.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Aghajanian S, Worrall DM (July 2002). "Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase)". The Biochemical Journal. 365 (Pt 1): 13–18. doi:10.1042/BJ20020569. PMC 1222654. PMID 11994049.
• Zhyvoloup A, Nemazanyy I, Panasyuk G, Valovka T, Fenton T, Rebholz H, et al. (December 2003). "Subcellular localization and regulation of coenzyme A synthase". The Journal of Biological Chemistry. 278 (50): 50316–50321. doi:10.1074/jbc.M307763200. PMID 14514684. S2CID 13307789.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• 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.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, et al. (December 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–954. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
• Nemazanyy I, Panasyuk G, Breus O, Zhyvoloup A, Filonenko V, Gout IT (March 2006). "Identification of a novel CoA synthase isoform, which is primarily expressed in the brain". Biochemical and Biophysical Research Communications. 341 (4): 995–1000. doi:10.1016/j.bbrc.2006.01.051. PMID 16460672.

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