COASY (Coenzyme A synthase)

2014-11-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
DPCK,NBIA6,NBP,PCH12,PPAT,UKR1,pOV-2
FUSION GENES

Other Information

Locus ID:

NCBI: 80347
MIM: 609855
HGNC: 29932
Ensembl: ENSG00000068120

Variants:

dbSNP: 80347
ClinVar: 80347
TCGA: ENSG00000068120
COSMIC: COASY

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000068120ENST00000393818Q13057
ENSG00000068120ENST00000421097Q13057
ENSG00000068120ENST00000585811K7EP09
ENSG00000068120ENST00000585909K7EPT0
ENSG00000068120ENST00000586771K7EN91
ENSG00000068120ENST00000587157K7EPC2
ENSG00000068120ENST00000587214K7ES73
ENSG00000068120ENST00000587858K7ESK6
ENSG00000068120ENST00000590958Q13057
ENSG00000068120ENST00000591779K7EQ60

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Pantothenate and CoA biosynthesisKEGGko00770
Pantothenate and CoA biosynthesisKEGGhsa00770
Metabolic pathwaysKEGGhsa01100
Coenzyme A biosynthesis, pantothenate => CoAKEGGhsa_M00120
Coenzyme A biosynthesis, pantothenate => CoAKEGGM00120
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220
Coenzyme A biosynthesisREACTOMER-HSA-196783

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387502532024Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.0
387502532024Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.0
364951392023Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.2
364951392023Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.2
354991432022COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.2
354991432022COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.2
317048892020CoA Synthase (COASY) Mediates Radiation Resistance via PI3K Signaling in Rectal Cancer.24
328282752020CoAsy knockdown in TNBC cell lines resulted in no overt effect on cell proliferation in vitro.4
317048892020CoA Synthase (COASY) Mediates Radiation Resistance via PI3K Signaling in Rectal Cancer.24
328282752020CoAsy knockdown in TNBC cell lines resulted in no overt effect on cell proliferation in vitro.4
295312242018CoA synthase regulates mitotic fidelity via CBP-mediated acetylation.23
301438042018Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.33
295312242018CoA synthase regulates mitotic fidelity via CBP-mediated acetylation.23
301438042018Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.33
270214742016Mutational analysis of COASY in an Italian patient with NBIA.13

Citation

Dessen P

COASY (Coenzyme A synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61974/teaching-explorer/img/deep-insight-explorer/