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

Gene ID: 570, updated on 24-Nov-2020

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
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]
Expression
Restricted expression toward liver (RPKM 152.3) See more
Orthologs

Genomic context

See BAAT in Genome Data Viewer
Location:
9q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (101360417..101385006, 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

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

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 
acyl-CoA hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carboxylic ester hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
choloyl-CoA 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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
glycine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187578.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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