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BAAT bile acid-CoA:amino acid N-acyltransferase [ Homo sapiens (human) ]

Gene ID: 570, updated on 11-Apr-2024

Summary

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Official Symbol
BAATprovided by HGNC
Official Full Name
bile acid-CoA:amino acid N-acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:932
See related
Ensembl:ENSG00000136881 MIM:602938; AllianceGenome:HGNC:932
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BAT; HCHO; BACAT; BACD1
Summary
The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward liver (RPKM 152.3) See more
Orthologs
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Genomic context

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Location:
9q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (101360417..101385006, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (113532396..113556986, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104122699..104147288, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 4 Neighboring gene zinc finger and BTB domain containing 10 pseudogene Neighboring gene forty-two-three domain containing 1 pseudogene 1 Neighboring gene mitochondrial ribosomal protein L50 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104160013-104160542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:104160543-104161071 Neighboring gene zinc finger protein 189 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:104169926-104171125

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity. Styles NA, et al. J Lipid Res, 2016 Jul. PMID 27230263, Free PMC Article
  2. Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency. Hadžić N, et al. World J Gastroenterol, 2012 Jul 7. PMID 22783059, Free PMC Article
  3. Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals. Tougou K, et al. Drug Metab Pharmacokinet, 2007 Apr. PMID 17495420
  4. Subcellular organization of bile acid amidation in human liver: a key issue in regulating the biosynthesis of bile salts. Solaas K, et al. J Lipid Res, 2000 Jul. PMID 10884298
  5. High-resolution mass spectrometry analysis of protein oxidations and resultant loss of function. Barnes S, et al. Biochem Soc Trans, 2008 Oct. PMID 18793185, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BAAT polymorphisms might not be associated with anti-tuberculosis drug-induced hepatotoxicity in the Chinese population
    Title: CYP7A1, BAAT and UGT1A1 polymorphisms and susceptibility to anti-tuberculosis drug-induced hepatotoxicity.
  2. These results indicate that even small changes in the carboxy terminus of BAAT can have significant effects on activity and substrate specificity
    Title: Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter activity and substrate specificity.
  3. Case Report: mmunostaining may facilitate diagnosis in bile-acid amidation defects in bile acid-CoA: amino acid N-acyltransferase deficiency.
    Title: Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
  5. Data show that dose-response inactivation by 4HNE (4-hydroxynonenal) of hBAT (human bile acid CoA:amino acid N-acyltransferase) and CKBB (cytosolic brain isoform of creatine kinase) is associated with site-specific modifications.
    Title: High-resolution mass spectrometry analysis of protein oxidations and resultant loss of function.
  6. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.
  7. identification of 3 novel SNPs, 147C>T in exon 2 (silent), 602G>C in exon 3 (Arg201Pro) & 1134C>T in exon 4 (silent), in the BAAT gene by resequencing the entire coding region and the exon-intron junctions of 100 Japanese individuals
    Title: Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.
  8. there is an essential catalytic triad within hBAT consisting of Cys-235, His-362, and Asp-328 with Cys-235 serving as the probable nucleophile and thus the site of covalent attachment of the bile acid molecule
    Title: Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase.
  9. cytosolic BACAT enzyme may play important roles in protection against toxicity by accumulation of unconjugated bile acids and non-esterified very long-chain fatty acids
    Title: The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine.
  10. hBAAT and rBaat are peroxisomal enzymes present in undetectable amounts in the cytosol. Unconjugated or deconjugated bile salts returning to the liver need to shuttle through the peroxisome before reentering the enterohepatic circulation.
    Title: Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20300, MGC104432

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables acyltransferase activity TAS
Traceable Author Statement
more info
  
enables carboxylic ester hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables choloyl-CoA hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acyl-CoA hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycine N-choloyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables long-chain fatty acyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables medium-chain fatty acyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables very long-chain fatty acyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in animal organ regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in bile acid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in bile acid conjugation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in bile acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in liver development IEA
Inferred from Electronic Annotation
more info
  
involved_in taurine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
bile acid-CoA:amino acid N-acyltransferase
Names
bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)
bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)
bile acid-CoA thioesterase
choloyl-CoA hydrolase
long-chain fatty-acyl-CoA hydrolase
NP_001121082.1
NP_001361644.1
NP_001692.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009774.1 RefSeqGene

    Range
    5000..29589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127610.2 → NP_001121082.1  bile acid-CoA:amino acid N-acyltransferase

    See identical proteins and their annotated locations for NP_001121082.1

    Status: REVIEWED

    Source sequence(s)
    AL353621, AL359893
    Consensus CDS
    CCDS6752.1
    UniProtKB/Swiss-Prot
    Q14032, Q3B7W9, Q96L31
    Related
    ENSP00000501610.1, ENST00000674556.1
    Conserved Domains (2) summary
    pfam08840
    Location:207 → 412
    BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
    pfam04775
    Location:14 → 140
    Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region

  2. NM_001374715.1 → NP_001361644.1  bile acid-CoA:amino acid N-acyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL353621, AL359893
    Consensus CDS
    CCDS6752.1
    UniProtKB/Swiss-Prot
    Q14032, Q3B7W9, Q96L31
    Related
    ENSP00000378491.3, ENST00000395051.4
    Conserved Domains (2) summary
    pfam08840
    Location:207 → 412
    BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
    pfam04775
    Location:14 → 140
    Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region

  3. NM_001701.4 → NP_001692.1  bile acid-CoA:amino acid N-acyltransferase

    See identical proteins and their annotated locations for NP_001692.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL353621, AL359893, BC009567, BC039200, L34081
    Consensus CDS
    CCDS6752.1
    UniProtKB/Swiss-Prot
    Q14032, Q3B7W9, Q96L31
    Related
    ENSP00000259407.2, ENST00000259407.7
    Conserved Domains (2) summary
    pfam08840
    Location:207 → 412
    BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
    pfam04775
    Location:14 → 140
    Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    101360417..101385006 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187578.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    421209..432266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    113532396..113556986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14032.1 GenPept UniProtKB/Swiss-Prot:Q14032

Gene LinkOut

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