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

    Gene ID: 570, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See BAAT in Genome Data Viewer
    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_000009.12Genomic 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 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?
    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

    Associated conditions

    Description Tests
    Bile acid conjugation defect 1
    MedGen: C5543203 OMIM: 619232 GeneReviews: Pediatric Genetic Cholestatic Liver Disease Overview
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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

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