COASY (Coenzyme A synthase)

2014-11-01  

Identity

HGNC
COASY
LOCATION
17q21.2
LOCUSID
80347
ALIAS
DPCK,NBIA6,NBP,PCH12,PPAT,UKR1,pOV-2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
243608042014Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.42
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
119940492002Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase).16
256684762015Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.12
301438042018Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.10
194820072009CoA synthase is in complex with p85alphaPI3K and affects PI3K signaling pathway.8
270214742016Mutational analysis of COASY in an Italian patient with NBIA.6
295312242018CoA synthase regulates mitotic fidelity via CBP-mediated acetylation.6
229828642012EDC4 interacts with and regulates the dephospho-CoA kinase activity of CoA synthase.5
164606722006Identification of a novel CoA synthase isoform, which is primarily expressed in the brain.4

Citation

Dessen P

COASY (Coenzyme A synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61974/coasy-(coenzyme-a-synthase)