Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	570
Gene name Gene Name - the full gene name approved by the HGNC.	Bile acid-CoA:amino acid N-acyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BAAT
Synonyms (NCBI Gene) Gene synonyms aliases	BACAT, BACD1, BAT, FHCA3, HCHO
Disease Acronyms (UniProt) Disease acronyms from UniProt database	FHCA3
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q31.1
Summary Summary of gene provided in NCBI Entrez 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 a

Show/Hide all(4)

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

Show/Hide all(59)

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

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0002152	Process	Bile acid conjugation	IDA	2037576, 8034703, 12810727
GO:0005515	Function	Protein binding	IPI	25416956, 32814053
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	17256745
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IDA	8034703, 12810727, 17256745
GO:0005829	Component	Cytosol	TAS
GO:0006544	Process	Glycine metabolic process	IDA	8034703
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006631	Process	Fatty acid metabolic process	IBA	21873635
GO:0006637	Process	Acyl-CoA metabolic process	IBA	21873635
GO:0006637	Process	Acyl-CoA metabolic process	IDA	12810727
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	TAS
GO:0016290	Function	Palmitoyl-CoA hydrolase activity	IEA
GO:0016410	Function	N-acyltransferase activity	IDA	12239217
GO:0016746	Function	Transferase activity, transferring acyl groups	TAS
GO:0019530	Process	Taurine metabolic process	IDA	8034703
GO:0031100	Process	Animal organ regeneration	IEA
GO:0033882	Function	Choloyl-CoA hydrolase activity	IEA
GO:0047617	Function	Acyl-CoA hydrolase activity	IBA	21873635
GO:0047963	Function	Glycine N-choloyltransferase activity	IDA	2037576, 8034703, 12810727
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0052815	Function	Medium-chain acyl-CoA hydrolase activity	IDA	12810727
GO:0052816	Function	Long-chain acyl-CoA hydrolase activity	IDA	12810727
GO:0052817	Function	Very long chain acyl-CoA hydrolase activity	IDA	12810727
GO:0102991	Function	Myristoyl-CoA hydrolase activity	IEA

MIM	HGNC	e!Ensembl
602938	932	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

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Taurine and hypotaurine metabolism Biosynthesis of unsaturated fatty acids Metabolic pathways Peroxisome Bile secretion		Recycling of bile acids and salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Peroxisomal protein import

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	23415802, 12704386
Hemolytic uremic syndrome	Atypical Hemolytic Uremic Syndrome	rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868 View all (24 more)
Hypercholanemia	Hypercholanemia, Familial, Familial hypercholanemia	rs121918299, rs587777520, rs928915940	23415802, 12704386

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Bile Acid Malabsorption Primary	Associate	22783059
Cholestasis	Associate	39252318
Cholestasis Intrahepatic	Associate	22783059
Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type I	Associate	23415802
HEM dysplasia	Associate	39252318
Hypersensitivity Immediate	Associate	35577790
Jaundice	Associate	22783059
Neoplasms	Associate	25458958
Non alcoholic Fatty Liver Disease	Associate	23391614

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