CRAT (carnitine O-acetyltransferase)

2017-11-01  

Identity

HGNC
CRAT
LOCATION
9q34.11
LOCUSID
1384
ALIAS
CAT,CAT1,NBIA8
FUSION GENES
Show Gene Fusions

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
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
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
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
364134082023Skeletal muscle mitochondrial inertia is associated with carnitine acetyltransferase activity and physical function in humans.6
378288982023Carnitine acetyltransferase deficiency mediates mitochondrial dysfunction-induced cellular senescence in dermal fibroblasts.3
364134082023Skeletal muscle mitochondrial inertia is associated with carnitine acetyltransferase activity and physical function in humans.6
378288982023Carnitine acetyltransferase deficiency mediates mitochondrial dysfunction-induced cellular senescence in dermal fibroblasts.3
314488452020CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.3
314488452020CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.3
286716722017Deregulation of MicroRNAs mediated control of carnitine cycle in prostate cancer: molecular basis and pathophysiological consequences.34
286716722017Deregulation of MicroRNAs mediated control of carnitine cycle in prostate cancer: molecular basis and pathophysiological consequences.34
234856432013Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.39
234856432013Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.39
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19

Citation

Dessen P

CRAT (carnitine O-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

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