• Gene id: 80347

Gene Summary

• Gene Symbol: COASY   Gene   UCSC   Ensembl
• Aliases: DPCK, NBIA6, NBP, PCH12, PPAT, UKR1, pOV-2
• Gene name: Coenzyme A synthase
• Alternate names: bifunctional coenzyme A synthase, CoA synthase, bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase, nucleotide binding protein, phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase,
• Gene location: 17q21.2 (42562147: 42566276)     Exons: 9     NC_000017.11
• Gene summary(Entrez): Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane tra
• OMIM: 612419

Protein Summary

• Protein general information: Q13057  
  • Name: Bifunctional coenzyme A synthase (CoA synthase) (NBP) (POV 2) [Includes: Phosphopantetheine adenylyltransferase (EC 2.7.7.3) (Dephospho CoA pyrophosphorylase) (Pantetheine phosphate adenylyltransferase) (PPAT); Dephospho CoA kinase (DPCK) (EC 2.7.1.24) (D
  • Length: 564  
  • Mass: 62329
  • Tissue specificity: Expressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in peripheral blood leukocytes and highe
• Sequence:

  MAVFRSGLLVLTTPLASLAPRLASILTSAARLVNHTLYVHLQPGMSLEGPAQPQSSPVQATFEVLDFITHLYAGA
  DVHRHLDVRILLTNIRTKSTFLPPLPTSVQNLAHPPEVVLTDFQTLDGSQYNPVKQQLVRYATSCYSCCPRLASV
  LLYSDYGIGEVPVEPLDVPLPSTIRPASPVAGSPKQPVRGYYRGAVGGTFDRLHNAHKVLLSVACILAQEQLVVG
  VADKDLLKSKLLPELLQPYTERVEHLSEFLVDIKPSLTFDVIPLLDPYGPAGSDPSLEFLVVSEETYRGGMAINR
  FRLENDLEELALYQIQLLKDLRHTENEEDKVSSSSFRQRMLGNLLRPPYERPELPTCLYVIGLTGISGSGKSSIA
  QRLKGLGAFVIDSDHLGHRAYAPGGPAYQPVVEAFGTDILHKDGIINRKVLGSRVFGNKKQLKILTDIMWPIIAK
  LAREEMDRAVAEGKRVCVIDAAVLLEAGWQNLVHEVWTAVIPETEAVRRIVERDGLSEAAAQSRLQSQMSGQQLV
  EQSHVVLSTLWEPHITQRQVEKAWALLQKRIPKTHQALD

• Structural information:
  • Protein Domains: (360..56-)
    (/note="DPCK"-)
  • Interpro: IPR004821  IPR001977  IPR027417  IPR014729  
  • Prosite: PS51219
  • STRING: ENSP00000464814
• Other Databases: GeneCards:  COASY  Malacards:  COASY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015937	coenzyme A biosynthetic process	IBA	biological process
GO:0004595	pantetheine-phosphate adenylyltransferase activity	IBA	molecular function
GO:0004140	dephospho-CoA kinase activity	IBA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0009058	biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004140	dephospho-CoA kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004595	pantetheine-phosphate adenylyltransferase activity	IEA	molecular function
GO:0004140	dephospho-CoA kinase activity	IEA	molecular function
GO:0004140	dephospho-CoA kinase activity	TAS	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0004595	pantetheine-phosphate adenylyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004595	pantetheine-phosphate adenylyltransferase activity	IEA	molecular function
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0004140	dephospho-CoA kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0015937	coenzyme A biosynthetic process	IDA	biological process
GO:0004595	pantetheine-phosphate adenylyltransferase activity	IDA	molecular function
GO:0004595	pantetheine-phosphate adenylyltransferase activity	IDA	molecular function
GO:0004140	dephospho-CoA kinase activity	IDA	molecular function
GO:0004140	dephospho-CoA kinase activity	IDA	molecular function
GO:0015937	coenzyme A biosynthetic process	TAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00770	Pantothenate and CoA biosynthesis

Diseases

Associated diseases	References
Neurodegeneration with brain iron accumulation	KEGG:H00833
Neurodegeneration with brain iron accumulation	KEGG:H00833
mucopolysaccharidosis III	PMID:11153910
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881