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

    Gene ID: 570, updated on 25-May-2017
    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; Vega:OTTHUMG00000020377
    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; BACAT
    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]
    Orthologs
    Location:
    9q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (101360417..101385005, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104122699..104147287, 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 zinc finger protein 189

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20300, MGC104432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    N-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carboxylic ester hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    glycine N-choloyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    long-chain acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    medium-chain acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myristoyl-CoA hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    palmitoyl-CoA hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferase activity, transferring acyl groups TAS
    Traceable Author Statement
    more info
     
    very long chain acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    bile acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    bile acid conjugation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bile acid metabolic process TAS
    Traceable Author Statement
    more info
     
    fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glycine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    taurine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)
    long-chain fatty-acyl-CoA hydrolase
    NP_001121082.1
    NP_001692.1

    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
      5001..29589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001121082.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK315347, AL359893
      Consensus CDS
      CCDS6752.1
      UniProtKB/Swiss-Prot
      Q14032
      Related
      ENSP00000259407.2, ENST00000259407.6
      Conserved Domains (2) summary
      pfam04775
      Location:15140
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
      pfam08840
      Location:206412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
    2. NM_001701.3NP_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)
      AL359893, BC009567, BC039200, L34081
      Consensus CDS
      CCDS6752.1
      UniProtKB/Swiss-Prot
      Q14032
      Conserved Domains (2) summary
      pfam04775
      Location:15140
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
      pfam08840
      Location:206412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      101360417..101385005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187578.1 Reference GRCh38.p7 ALT_REF_LOCI_1

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      104269127..104293716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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