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

Also Known as BAT; HCHO; BACAT; BACD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 570

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	References	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	References	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	References	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

BAAT_C

0
100
200
300
400
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	References
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

BAAT Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89808	BAAT Antibody (YA9152)	WB, IP, ELISA	human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS27205	Baat Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01330	BAAT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20694	Baat Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	BAAT	NCBI