bile acid-CoA:amino acid N-acyltransferase

Summary
Gene Symbol
  • BAAT
Aliases
  • BAT
  • glycine N-choloyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
570
HGNC
932
KEGG Gene ID
hsa:570
PubChem
570
Alliance of Genome Resources
Annotation
Keyword
  • Acyltransferase
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Fatty acid metabolism
  • Peroxisome
  • Phosphoprotein
  • Reference proteome
  • Serine esterase
Proteins
Displaying 1 entry
UniProt Protein Name
Q14032
  • Bile acid-CoA thioesterase
  • Choloyl-CoA hydrolase
  • Glycine N-choloyltransferase
  • Long-chain fatty-acyl-CoA hydrolase
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00659
Name
bile acid-CoA:amino acid N-acyltransferase [EC:2.3.1.65 3.1.2.2]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 153 in total
DO ID Disease Name Source
DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II
DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome
DOID:0060764 autosomal recessive Robinow syndrome
DOID:0060765 autosomal dominant Robinow syndrome 2
DOID:0060766 autosomal dominant Robinow syndrome 1
DOID:0060767 autosomal dominant Robinow syndrome 3
DOID:0080199 colorectal carcinoma
DOID:0080301 atypical hemolytic-uremic syndrome
DOID:0080409 familial adenomatous polyposis 1
DOID:0110334 osteogenesis imperfecta type 1
The Human Phenotype Ontology
Displaying all 9 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000952 Jaundice
HP:0001399 Hepatic failure
HP:0002240 Hepatomegaly
HP:0002748 Rickets
HP:0002908 Conjugated hyperbilirubinemia
HP:0003593 Infantile onset
HP:0003621 Juvenile onset
HP:0011463 Childhood onset
Displaying 1 entry
Disease ID Disease Name
OMIM:619232
  • bile acid conjugation defect 1
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000423
Gene Name
bile acid CoA:amino acid N-acyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024