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

Summary

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; FHCA3
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: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (101360417..101385006, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (113532396..113556986, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (104122699..104147288, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
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.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.
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.
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.
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.
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

Associated conditions

Description	Tests
Bile acid conjugation defect 1 MedGen: C5543203 OMIM: 619232 GeneReviews: Pediatric Genetic Cholestatic Liver Disease Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1952 (e-PCR)
- UniSTS:9235

STS-L34081 (e-PCR)
- UniSTS:41788

RH45350 (e-PCR)
- UniSTS:81646

RH16182 (e-PCR)
- UniSTS:64505

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

EC 2.3.1.65

EC 3.1.2.2

EC 3.1.2.27

NP_001361644.1

EC 2.3.1.65

EC 3.1.2.2

EC 3.1.2.27

NP_001692.1

EC 2.3.1.65

EC 3.1.2.2

EC 3.1.2.27

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

NG_009774.1 RefSeqGene

Range

5000..29589

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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