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

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

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BAAT in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20300, MGC104432

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001127610.2NP_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:207412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
      pfam04775
      Location:14140
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
    2. NM_001374715.1NP_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:207412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
      pfam04775
      Location:14140
      Bile_Hydr_Trans; Acyl-CoA thioester hydrolase/BAAT N-terminal region
    3. NM_001701.4NP_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:207412
      BAAT_C; BAAT / Acyl-CoA thioester hydrolase C terminal
      pfam04775
      Location:14140
      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)