COASY (Coenzyme A synthase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80347
Gene name Gene Name - the full gene name approved by the HGNC.
Coenzyme A synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COASY
Synonyms (NCBI Gene) Gene synonyms aliases
DPCK, NBIA6, NBP, PCH12, PPAT, UKR1, pOV-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NBIA6, PCH12
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs587777136 C>T Pathogenic Coding sequence variant, stop gained
rs1022433060 A>C Likely-pathogenic Splice acceptor variant
rs1567903711 C>T Pathogenic Coding sequence variant, stop gained
rs1567904066 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(78)
miRTarBase ID miRNA Experiments Reference
MIRT030060 hsa-miR-26b-5p Microarray 19088304
MIRT050109 hsa-miR-26a-5p CLASH 23622248
MIRT043324 hsa-miR-331-3p CLASH 23622248
MIRT036719 hsa-miR-760 CLASH 23622248
MIRT566310 hsa-miR-548n PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0004140 Function Dephospho-CoA kinase activity IBA 21873635
GO:0004140 Function Dephospho-CoA kinase activity IDA 11923312, 11994049
GO:0004140 Function Dephospho-CoA kinase activity TAS
GO:0004595 Function Pantetheine-phosphate adenylyltransferase activity IBA 21873635
GO:0004595 Function Pantetheine-phosphate adenylyltransferase activity IDA 11923312, 11994049
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609855 29932 ENSG00000068120
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13057
Protein 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
Protein function Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by th
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01467 CTP_transf_like 195 → 339 Cytidylyltransferase-like Domain
PF01121 CoaE 359 → 535 Dephospho-CoA kinase Domain
Tissue specificity 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 
MAVFRSGLLVLTTPLASLAPRLASILTSAARLVNHTLYVHLQPGMSLEGPAQPQSSPVQA
TFEVLDFITHLYAGADVHRHLDVRILLTNIRTKSTFLPPLPTSVQNLAHPPEVVLTDFQT
LDGSQYNPVKQQLVRYATSCYSCCPRLASVLLYSDYGIGEVPVEPLDVPLPSTIRPASPV
AGSPKQPVRGYYRGAVGGTFDRLHNAHKVLLSVACILAQEQLVVGVADKDLLKSKLLPEL
LQPYTERVEHLSEFLVDIKPSLTFDVIPLLDPYGPAGSDPSLEFLVVSEETYRGGMAINR
FRLENDLEELALYQIQLLKDLRHTENEEDKVSSSSFRQRMLGNLLRPPYERPELPTCLYV
IGLTGISGSGKSSIAQRLKGLGAFVIDSDHLGHRAYAPGGPAYQPVVEAFGTDILHKDGI
INRKVLGSRVFGNKKQLKILTDIMWPIIAKLAREEMDRAVAEGKRVCVIDAAVLLEAGWQ
NLVHEVWTAVIPETEAVRRIVERDGLSEAAAQSRLQSQMSGQQLVEQSHVVLSTLWEPHI
TQRQVEKAWALLQKRIPKTHQALD
Sequence length 564
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors 		  Coenzyme A biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Ciliary dyskinesia PONTOCEREBELLAR HYPOPLASIA, TYPE 12 rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 30089828
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Mental depression Depressive disorder ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 32699290
Amyotrophic lateral sclerosis 1 Associate 26704906
Arthrogryposis Associate 30089828
Bone Diseases Metabolic Associate 21092186
Cognitive Dysfunction Associate 32699290
Menopause Premature Associate 21198743
Microcephaly Associate 30089828
Neoplasms Associate 32828275
Neuroblastoma Associate 25671571
Neurodegenerative Diseases Associate 30089828, 32699290