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

2014-11-01  

Identity

HGNC
LOCATION
9q31.1
LOCUSID
ALIAS
BACAT,BACD1,BAT,HCHO
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
127043862003Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.68
172567452007Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport.16
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
128107272003The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine.10
122392172002Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase.9
187931852008High-resolution mass spectrometry analysis of protein oxidations and resultant loss of function.5
227830592012Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.5
271551862016CYP7A1, BAAT and UGT1A1 polymorphisms and susceptibility to anti-tuberculosis drug-induced hepatotoxicity.4
272302632016Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity.2
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/baat