CRAT (carnitine O-acetyltransferase)

2017-11-01  

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
CAT,CAT1,NBIA8
FUSION GENES

Other Information

Locus ID:

NCBI: 1384
MIM: 600184
HGNC: 2342
Ensembl: ENSG00000095321

Variants:

dbSNP: 1384
ClinVar: 1384
TCGA: ENSG00000095321
COSMIC: CRAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095321ENST00000318080P43155
ENSG00000095321ENST00000393384A6PVN3
ENSG00000095321ENST00000415948H7C0E1
ENSG00000095321ENST00000441796F2Z2C5
ENSG00000095321ENST00000455396H0Y4Z7
ENSG00000095321ENST00000455830B7ZBP5
ENSG00000095321ENST00000458362F2Z2C5

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Beta-oxidation of pristanoyl-CoAREACTOMER-HSA-389887
Beta-oxidation of very long chain fatty acidsREACTOMER-HSA-390247

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195536742009Carnitine insufficiency caused by aging and overnutrition compromises mitochondrial performance and metabolic control.115
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
110018052000Genomics of the human carnitine acyltransferase genes.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
286716722017Deregulation of MicroRNAs mediated control of carnitine cycle in prostate cancer: molecular basis and pathophysiological consequences.17
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
125627702003Structure of human carnitine acetyltransferase. Molecular basis for fatty acyl transfer.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
150995822004Structural and mutational characterization of L-carnitine binding to human carnitine acetyltransferase.2
120774402002Crystallization and preliminary X-ray crystallographic studies on recombinant human carnitine acetyltransferase.0

Citation

Dessen P

CRAT (carnitine O-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57238/crat