BAAT (bile acid-CoA:amino acid N-acyltransferase)

2014-11-01  

Identity

HGNC
BAAT
LOCATION
9q31.1
LOCUSID
570
ALIAS
BACAT,BACD1,BAT,HCHO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 570
MIM: 602938
HGNC: 932
Ensembl: ENSG00000136881

Variants:

dbSNP: 570
ClinVar: 570
TCGA: ENSG00000136881
COSMIC: BAAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136881ENST00000259407Q14032
ENSG00000136881ENST00000395051Q14032

Expression (GTEx)

0
50
100
150
200
250
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
Primary bile acid biosynthesisKEGGko00120
Taurine and hypotaurine metabolismKEGGko00430
Biosynthesis of unsaturated fatty acidsKEGGko01040
Primary bile acid biosynthesisKEGGhsa00120
Taurine and hypotaurine metabolismKEGGhsa00430
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Conjugated bile acid biosynthesis, cholate => taurocholate/glycocholateKEGGM00106
Conjugated bile acid biosynthesis, cholate => taurocholate/glycocholateKEGGhsa_M00106
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Recycling of bile acids and saltsREACTOMER-HSA-159418

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
271551862016CYP7A1, BAAT and UGT1A1 polymorphisms and susceptibility to anti-tuberculosis drug-induced hepatotoxicity.6
272302632016Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity.10
271551862016CYP7A1, BAAT and UGT1A1 polymorphisms and susceptibility to anti-tuberculosis drug-induced hepatotoxicity.6
272302632016Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity.10
227830592012Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.6
227830592012Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.6
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.19
187931852008High-resolution mass spectrometry analysis of protein oxidations and resultant loss of function.6
187931852008High-resolution mass spectrometry analysis of protein oxidations and resultant loss of function.6
172567452007Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport.27
174954202007Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.1
174954202007Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.1
172567452007Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport.27
174954202007Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.1

Citation

Dessen P

BAAT (bile acid-CoA:amino acid N-acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60695