BAAT (bile acid-CoA:amino acid N-acyltransferase)

Gene

• Entrez ID: 570
• Gene name: Bile acid-CoA:amino acid N-acyltransferase
• Gene symbol: BAAT
• Synonyms (NCBI Gene): BACAT, BACD1, BAT, FHCA3, HCHO
• Chromosome: 9
• Chromosome location: 9q31.1
• 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 a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937579	T>C	Pathogenic	Missense variant, coding sequence variant
rs80356746	G>C	Pathogenic	Coding sequence variant, synonymous variant
rs80356747	T>C	Pathogenic	Coding sequence variant, missense variant
rs377631387	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006069	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006069	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006069	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT018459	hsa-miR-335-5p	Microarray	18185580
MIRT564383	hsa-miR-3133	PAR-CLIP	20371350
MIRT564382	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT564381	hsa-miR-4311	PAR-CLIP	20371350
MIRT564380	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT564379	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT564378	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT564377	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT564383	hsa-miR-3133	PAR-CLIP	20371350
MIRT564382	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT564381	hsa-miR-4311	PAR-CLIP	20371350
MIRT564380	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT564379	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT564378	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT564377	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT814112	hsa-miR-101	CLIP-seq
MIRT814113	hsa-miR-1224-5p	CLIP-seq
MIRT814114	hsa-miR-1264	CLIP-seq
MIRT814115	hsa-miR-3545-3p	CLIP-seq
MIRT814116	hsa-miR-374c	CLIP-seq
MIRT814117	hsa-miR-431	CLIP-seq
MIRT814118	hsa-miR-4536	CLIP-seq
MIRT814119	hsa-miR-4645-3p	CLIP-seq
MIRT814120	hsa-miR-4698	CLIP-seq
MIRT814121	hsa-miR-4751	CLIP-seq
MIRT814122	hsa-miR-518a-5p	CLIP-seq
MIRT814123	hsa-miR-527	CLIP-seq
MIRT814124	hsa-miR-655	CLIP-seq
MIRT814125	hsa-miR-3120-3p	CLIP-seq
MIRT814126	hsa-miR-3169	CLIP-seq
MIRT814127	hsa-miR-4434	CLIP-seq
MIRT814128	hsa-miR-4502	CLIP-seq
MIRT814129	hsa-miR-4516	CLIP-seq
MIRT814122	hsa-miR-518a-5p	CLIP-seq
MIRT814123	hsa-miR-527	CLIP-seq
MIRT814130	hsa-miR-545	CLIP-seq
MIRT1920275	hsa-miR-3662	CLIP-seq
MIRT1920276	hsa-miR-4289	CLIP-seq
MIRT1940713	hsa-miR-1910	CLIP-seq
MIRT1940714	hsa-miR-3144-3p	CLIP-seq
MIRT1940715	hsa-miR-3688-3p	CLIP-seq
MIRT1940716	hsa-miR-4264	CLIP-seq
MIRT1940717	hsa-miR-4476	CLIP-seq
MIRT1940718	hsa-miR-4493	CLIP-seq
MIRT1940719	hsa-miR-455-3p	CLIP-seq
MIRT1940720	hsa-miR-4753-5p	CLIP-seq
MIRT1940721	hsa-miR-4777-3p	CLIP-seq
MIRT1940722	hsa-miR-875-5p	CLIP-seq
MIRT2179712	hsa-miR-3198	CLIP-seq
MIRT2179713	hsa-miR-3617	CLIP-seq
MIRT2179714	hsa-miR-4309	CLIP-seq
MIRT2179715	hsa-miR-433	CLIP-seq
MIRT2179716	hsa-miR-4802-3p	CLIP-seq
MIRT2179717	hsa-miR-490-5p	CLIP-seq
MIRT2179718	hsa-miR-641	CLIP-seq
MIRT2444588	hsa-miR-3675-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0002152	Process	Bile acid conjugation	IDA	2037576, 8034703, 12810727
GO:0002152	Process	Bile acid conjugation	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	17256745
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IDA	8034703, 12810727, 17256745
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006544	Process	Glycine metabolic process	IDA	8034703
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006637	Process	Acyl-CoA metabolic process	IBA
GO:0006637	Process	Acyl-CoA metabolic process	IDA	12810727
GO:0006637	Process	Acyl-CoA metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	8034703, 12810727
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	TAS
GO:0016410	Function	N-acyltransferase activity	IDA	12239217
GO:0016410	Function	N-acyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016746	Function	Acyltransferase activity	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016790	Function	Thiolester hydrolase activity	IEA
GO:0019530	Process	Taurine metabolic process	IDA	8034703
GO:0031100	Process	Animal organ regeneration	IEA
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0033882	Function	Choloyl-CoA hydrolase activity	IEA
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IBA
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IEA
GO:0047963	Function	Glycine N-choloyltransferase activity	IDA	2037576, 8034703, 12810727
GO:0047963	Function	Glycine N-choloyltransferase activity	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0052815	Function	Medium-chain fatty acyl-CoA hydrolase activity	IDA	12810727
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IDA	12810727
GO:0052817	Function	Very long-chain fatty acyl-CoA hydrolase activity	IDA	12810727

Other IDs

• MIM: 602938
• HGNC: 932
• e!Ensembl: ENSG00000136881

Protein

• UniProt ID: Q14032
• Protein name: Bile acid-CoA:amino acid N-acyltransferase (BACAT) (BAT) (EC 2.3.1.65) (Bile acid-CoA thioesterase) (Choloyl-CoA hydrolase) (EC 3.1.2.27) (Glycine N-choloyltransferase) (Long-chain fatty-acyl-CoA hydrolase) (EC 3.1.2.2)
• Protein function: Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12239217, PubMed:12810727, PubMed:2037576, PubMed:8034703). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amid
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04775	Bile_Hydr_Trans	14 → 144	Acyl-CoA thioester hydrolase/BAAT N-terminal region	Family
  PF08840	BAAT_C	206 → 412	BAAT / Acyl-CoA thioester hydrolase C terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the gallbladder mucosa and pancreas (PubMed:12810727, PubMed:2037576). Expressed in hepatocytes (at protein level) (PubMed:12810727, PubMed:2037576, PubMed:23415802). {ECO:0000269|PubMed:12810727, ECO:0000269|PubMed:203757
• Sequence:

  MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMFYSQAHYRANEFGEVDL
  NHASSLGGDYMGVHPMGLFWSLKPEKLLTRLLKRDVMNRPFQVQVKLYDLELIVNNKVAS
  APKASLTLERWYVAPGVTRIKVREGRLRGALFLPPGEGLFPGVIDLFGGLGGLLEFRASL
  LASRGFASLALAYHNYEDLPRKPEVTDLEYFEEAANFLLRHPKVFGSGVGVVSVCQGVQI
  GLSMAIYLKQVTATVLINGTNFPFGIPQVYHGQIHQPLPHSAQLISTNALGLLELYRTFE
  TTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKNNWTLLSYPGA
  GHLIEPPYSPLCCASTTHDLRLHWGGEVIPHAAAQEHAWKEIQRFLRKHLIPDVTSQL

• Sequence length: 418

Pathways

KEGG:

Primary bile acid biosynthesis
Taurine and hypotaurine metabolism
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Peroxisome
Bile secretion

Reactome:

Recycling of bile acids and salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Peroxisomal protein import

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Bile acid conjugation defect 1	Pathogenic	rs2119013151, rs1829935083, rs758476278, rs369808582, rs28937579	RCV001353081 RCV001353082 RCV001353083 RCV001353084 RCV000007112	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BAAT-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILE ACID COA:AMINO ACID N-ACYLTRANSFERASE DEFICIENCY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERCHOLANEMIA	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic uremic syndrome, atypical, susceptibility to, 1	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholanemia, familial	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholanemia, familial 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERCHOLANEMIA, FAMILIAL 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	10362787, 10547536		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10362787		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12777192		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	10547536		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bile Acid Malabsorption Primary	Bile acid malabsorption	Pubtator	22783059	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	27215135, 30659653, 31304589		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10845276, 15289882		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10362787, 10417760, 10799734, 19373783, 9950157		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16012876		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17013540		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	12704386, 23415802		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	39252318	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	22783059	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17985359		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10419591, 10819367, 11705861, 11889073, 12632072, 14516316, 17461444, 20703819, 23905898, 24452720, 30549036, 30564073		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10362787, 17075985, 9349505		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31845114		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31845114		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24742873		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29329795		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12057899, 12792767, 19373783		★☆☆☆☆ Found in Text Mining only
Familial hypercholanemia	Hypercholanemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	23391614		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26792897		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26792897		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	21319197		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10419591, 11518750, 16426447		★☆☆☆☆ Found in Text Mining only
Hibernoma	Hibernoma	BEFREE	29074274		★☆☆☆☆ Found in Text Mining only
Hypercholanemia, Familial	Hypercholanemia	BEFREE	12704386		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholanemia, Familial	Hypercholanemia	GENOMICS_ENGLAND_DG	12704386, 23415802		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholanemia, Familial	Hypercholanemia	ORPHANET_DG	12704386		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholanemia, Familial	Hypercholanemia	UNIPROT_DG	12704386		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholanemia, Familial	Hypercholanemia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholanemia, Familial	Hypercholanemia	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12704386		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	35577790	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29248236		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29666563		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29666563		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14687025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10845276, 15289882		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	12792767		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29248236		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11422810, 17786318		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15767343		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11705861, 12065777, 12661003, 17075985, 22653744, 23420356, 26659721, 26792897, 30564073		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12378532, 16108056, 17985359, 9927040		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29387203		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29248236		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10352929, 10393852, 10398102, 10433928, 10723572, 10799734, 10845276, 10918209, 11471486, 12713560, 14654931, 15455342, 16108056, 16299036, 16426447, 22653744, 22669410, 24193342, 26792897, 29651702, 30549036, 9000572, 9349505, 9491320, 9751605, 9792412		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31464779		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10928062		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20935661, 28539390, 28768190, 29642370, 29898626, 29902549, 30201103, 31067456, 31845114		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	30062524		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	31304589		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28501702, 31663293		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29248236		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	26963625		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29248236, 7575455		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12713560		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10393852, 11422810		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	31240927		★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	10602436		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15767343		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11705861, 15767343		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	17985359		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 1	von Willebrand disorder	BEFREE	29115727		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 3	von Willebrand disorder	BEFREE	26375306		★☆☆☆☆ Found in Text Mining only