Homo sapiens Protein: BAAT | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-78919.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | BAAT | ||||||||||||||||||||||
Protein Name | bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) | ||||||||||||||||||||||
Synonyms | BACAT; BAT; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000259407 | ||||||||||||||||||||||
InnateDB Gene | IDBG-78917 (BAAT) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:12810727}. | ||||||||||||||||||||||
Disease Associations | Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269PubMed:12704386}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed in liver, gallbladder mucosa and pancreas. {ECO:0000269PubMed:12810727, ECO:0000269PubMed:2037576}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR006862
Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase IPR014940 BAAT/Acyl-CoA thioester hydrolase C-terminal IPR016662 Acyl-CoA thioesterase, long chain IPR029058 Alpha/Beta hydrolase fold |
||||||||||||||||||||||
PFAM |
PF04775
PF08840 |
||||||||||||||||||||||
PRINTS | |||||||||||||||||||||||
PIRSF |
PIRSF016521
|
||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q14032 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14032 | ||||||||||||||||||||||
TrEMBL | A0A024R149 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 570 | ||||||||||||||||||||||
UniGene | Hs.284712 | ||||||||||||||||||||||
RefSeq | NP_001121082 | ||||||||||||||||||||||
HUGO | HGNC:932 | ||||||||||||||||||||||
OMIM | 602938 | ||||||||||||||||||||||
CCDS | CCDS6752 | ||||||||||||||||||||||
HPRD | 08376 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL359893 BC009567 BC107424 CH471105 CR541918 L34081 | ||||||||||||||||||||||
GenPept | AAC37550 AAH09567 AAI07425 CAG46716 CAH72995 EAW58943 EAW58944 EAW58946 | ||||||||||||||||||||||