LMPD Database

LMP000423

Record overview

LMPD IDLMP000423
Gene ID570
SpeciesHomo sapiens (Human)
Gene Namebile acid CoA:amino acid N-acyltransferase
Gene SymbolBAAT
SynonymsBACAT; BAT
Alternate namesbile acid-CoA:amino acid N-acyltransferase; long-chain fatty-acyl-CoA hydrolase; bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase); bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)
Chromosome9
Map Location9q22.3
EC Number2.3.1.65
SummaryThe 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]
OrthologsView orthologs and multiple alignments for BAAT

Proteins

bile acid-CoA:amino acid N-acyltransferase
Refseq ID:NP_001121082
Protein GI:189083866
UniProt ID:Q14032
mRNA ID:NM_001127610
Length:418
RefSeq Status:REVIEWED
MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMFYSQAHYRANEFGEVDLNHASSLGGDYMGVHPMGLFWSLKPEKLLTRLLKRDVMNRP
FQVQVKLYDLELIVNNKVASAPKASLTLERWYVAPGVTRIKVREGRLRGALFLPPGEGLFPGVIDLFGGLGGLLEFRASLLASRGFASLALAYHNYEDLP
RKPEVTDLEYFEEAANFLLRHPKVFGSGVGVVSVCQGVQIGLSMAIYLKQVTATVLINGTNFPFGIPQVYHGQIHQPLPHSAQLISTNALGLLELYRTFE
TTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKNNWTLLSYPGAGHLIEPPYSPLCCASTTHDLRLHWGGEVIPHAAAQEHAWK
EIQRFLRKHLIPDVTSQL
 
bile acid-CoA:amino acid N-acyltransferase
Refseq ID:NP_001692
Protein GI:4502351
UniProt ID:Q14032
mRNA ID:NM_001701
Length:418
RefSeq Status:REVIEWED
Protein sequence is identical to GI:189083866 (mRNA isoform)