BAAT

Protein identityUniProt · HPA

UniProt accession

Q14032

Gene

BAAT

Ensembl

ENSG00000136881

Chromosome

9

Canonical length

418 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

418 residues, UniProt reviewed canonical sequence.

>Q14032|BAAT
     1  MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY RANEFGEVDL
    61  NHASSLGGDY MGVHPMGLFW SLKPEKLLTR LLKRDVMNRP FQVQVKLYDL ELIVNNKVAS
   121  APKASLTLER WYVAPGVTRI KVREGRLRGA LFLPPGEGLF PGVIDLFGGL GGLLEFRASL
   181  LASRGFASLA LAYHNYEDLP RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI
   241  GLSMAIYLKQ VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE
   301  TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN NWTLLSYPGA
   361  GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK EIQRFLRKHL IPDVTSQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BAAT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

675 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BAAT.

Disease | AllUniProt

Conditions BAAT is implicated in, by any mechanism.

• Hypercholanemia, familial 3 (FHCA3) MIM:619232

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 208 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bile acid conjugation defect 1
• BAAT-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.39

gnomAD pLI

0

gnomAD missense Z

0.01

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• acyl-CoA metabolic process
• animal organ regeneration
• bile acid biosynthetic process
• bile acid metabolic process
• fatty acid metabolic process
• glycine metabolic process
• liver development
• taurine metabolic process
• bile acid conjugation

Molecular functions

• acyltransferase activity
• carboxylic ester hydrolase activity
• choloyl-CoA hydrolase activity
• fatty acyl-CoA hydrolase activity
• long-chain fatty acyl-CoA hydrolase activity
• medium-chain fatty acyl-CoA hydrolase activity
• N-acyltransferase activity
• very long-chain fatty acyl-CoA hydrolase activity
• glycine N-choloyltransferase activity

Cellular components

• cytosol
• peroxisomal matrix
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase
• BAAT/Acyl-CoA thioester hydrolase C-terminal
• Acyl-CoA thioesterase, long chain
• Alpha/Beta hydrolase fold
• Acyl-CoA thioester hydrolase/BAAT, N-terminal
• Acyl-CoA thioester hydrolase/BAAT N-terminal region
• BAAT / Acyl-CoA thioester hydrolase C terminal

KeywordsUniProt

• Acyltransferase
• Cytoplasm
• Fatty acid metabolism
• Hydrolase
• Lipid metabolism
• Peroxisome
• Phosphoprotein
• Serine esterase
• Transferase