2. Gene
  3. BAAT - bile acid-CoA:amino acid N-acyltransferase Gene

BAAT - bile acid-CoA:amino acid N-acyltransferase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BAT; HCHO; BACAT; BACD1

Gene ID: 570 | Gene type: protein coding

About BAAT

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:101,360,417-101,385,006 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 372 orthologues, 4 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 152.3).

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]

BAAT Products(3)

mRNA Protein Name
NM_001127610.2 NP_001121082.1 bile acid-CoA:amino acid N-acyltransferase
NM_001374715.1 NP_001361644.1 bile acid-CoA:amino acid N-acyltransferase
NM_001701.4 NP_001692.1 bile acid-CoA:amino acid N-acyltransferase
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables N-acyltransferase activity IDA
IDA: Inferred from direct assay
12239217 GOA
enables glycine N-choloyltransferase activity IDA
IDA: Inferred from direct assay
2037576 GOA
enables long-chain fatty acyl-CoA hydrolase activity IDA
IDA: Inferred from direct assay
12810727 GOA
enables medium-chain fatty acyl-CoA hydrolase activity IDA
IDA: Inferred from direct assay
12810727 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables very long-chain fatty acyl-CoA hydrolase activity IDA
IDA: Inferred from direct assay
12810727 GOA
Biological Process GO Annotation Evidence Reference Source
involved in acyl-CoA metabolic process IDA
IDA: Inferred from direct assay
12810727 GOA
involved in bile acid biosynthetic process IDA
IDA: Inferred from direct assay
8034703 GOA
involved in bile acid conjugation IDA
IDA: Inferred from direct assay
2037576 GOA
involved in glycine metabolic process IDA
IDA: Inferred from direct assay
8034703 GOA
involved in taurine metabolic process IDA
IDA: Inferred from direct assay
8034703 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
8034703 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
17256745 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BAAT Protein Structure

Bile_Hydr_Trans

Bile_Hydr_Trans: Acyl-CoA thioester hydrolase/BAAT N-terminal region (13 - 145)

BAAT_C

BAAT_C: BAAT / Acyl-CoA thioester hydrolase C terminal (206 - 410)

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
Protein Preferred Names Protein Names

bile acid-CoA:amino acid N-acyltransferase

bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)

BAAT Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra BAAT Q14032 GOLGA8F Homo sapiens Q08AF8
Validated Y2H
25416956
Intra BAAT Q14032 GOLGA8F Homo sapiens Q08AF8
Y2H Array
25416956
Intra BAAT Q14032 GOLGA8DP Homo sapiens Q0D2H9
Y2H Prey Pooling
25416956
Intra BAAT Q14032 GOLGA8DP Homo sapiens Q0D2H9
Y2H Array
25416956
Intra BAAT Q14032 PPIA Homo sapiens P62937-2
Y2H Array
32814053
Intra BAAT Q14032 PPIA Homo sapiens P62937-2
Validated Y2H
32814053
Intra BAAT Q14032 PPIA Homo sapiens P62937-2
Y2H Pooling
32814053
Intra BAAT Q14032 YWHAG Homo sapiens P61981
Y2H Pooling
32814053
Intra BAAT Q14032 YWHAG Homo sapiens P61981
Validated Y2H
32814053
Intra BAAT Q14032 YWHAG Homo sapiens P61981
Y2H Array
32814053
Intra BAAT Q14032 SETDB1 Homo sapiens Q15047-2
Y2H Pooling
32814053
Intra BAAT Q14032 SETDB1 Homo sapiens Q15047-2
Validated Y2H
32814053
Intra BAAT Q14032 SETDB1 Homo sapiens Q15047-2
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Bile Acid Conjugation Defect 1

BACD1
Familial Hypercholanemia

Hypercholanemia, Familial

Hereditary Hypercholanemia
Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]
Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3

CBAS3

Oxysterol 7-Alpha-Hydroxylase Deficiency

Congenital Bile Acid Synthesis Defect Type 3

Basd3

Bile Acid Synthesis Defect, Congenital, Type 3
Exhibitionism
Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]
Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1

Byler Disease

Cholestasis, Progressive Familial Intrahepatic 1

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis Type 1

Fic1 Deficiency

Byler'S Disease

Cholestasis, Fatal Intrahepatic

Progressive Familial Intrahepatic Cholestasis

Severe Atp8b1 Deficiency

Fatal Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Familial, Progressive, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3
Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01330 BAAT Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris BAAT VGNC VGNC:56064
Mus musculus BAAT MGD MGI:106642
Macaca mulatta BAAT VGNC VGNC:104878
Rattus norvegicus BAAT RGD RGD:2190