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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	570
Gene name	Bile acid-CoA:amino acid N-acyltransferase
Gene symbol	BAAT
Synonyms (NCBI Gene)	BACATBACD1BATFHCA3HCHO
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

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	MicroarrayqRT-PCR	21319197
MIRT006069	hsa-miR-492	MicroarrayqRT-PCR	21319197
MIRT006069	hsa-miR-492	MicroarrayqRT-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 (42)

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

MIM	HGNC	e!Ensembl
602938	932	ENSG00000136881

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

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Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bile acid conjugation defect 1	Pathogenic	rs2119013151, rs1829935083, rs758476278, rs369808582, rs28937579	RCV001353081 RCV001353082 RCV001353083 RCV001353084 RCV000007112

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BAAT-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs181929679, rs1829930929, rs41281027, rs144591246, rs149369902, rs139829321, rs113673597, rs371212382, rs374248798, rs761880919, rs2538288753, rs770597659, rs144858457, rs369978470, rs1164013317 View all (11 more)	RCV003927609 RCV004731498 RCV003940053 RCV003930175 RCV004755848 RCV003957510 RCV003910039 RCV003419112 RCV003897810 RCV003964632 RCV003982704 RCV003901748 RCV003901361 RCV003983537 RCV003963809 RCV003969824 RCV003935593 RCV003900320 RCV003945428 RCV003953300 RCV003908039 RCV004756026 RCV003420303 RCV003424320 RCV004756028 RCV003953554
Cholangiocarcinoma	Benign	rs10120345	RCV005900435
Hemolytic uremic syndrome, atypical, susceptibility to, 1	not provided	rs80356746, rs80356747	RCV000020463 RCV000020464
Hepatocellular carcinoma	Benign	rs10120345	RCV005900432
Hypercholanemia, familial	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs755320451, rs760757882, rs35538457, rs539433580, rs181417867, rs570341484	RCV000302555 RCV000266375 RCV000305122 RCV000368333 RCV000290459 RCV000352907
Hypercholanemia, familial 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs768526453, rs61756326, rs61755096, rs41281027, rs1572983, rs140793591, rs144591246, rs139829321, rs144108294, rs10120345, rs59311341, rs188189145, rs886063282, rs41316534, rs41301517 View all (64 more)	RCV000333195 RCV001167699 RCV000263074 RCV000380711 RCV000379275 RCV000311289 RCV000327484 RCV001167698 RCV000398913 RCV000346788 RCV000399579 RCV000260585 RCV000318181 RCV000273572 RCV000296039 RCV000298523 RCV000287213 RCV000338434 RCV000348848 RCV000395124 RCV000295640 RCV000352739 RCV000308325 RCV000375007 RCV000331110 RCV000344002 RCV000355547 RCV000275785 RCV000358836 RCV000387940 RCV000400968 RCV000342959 RCV000399180 RCV000269862 RCV000384426 RCV000282989 RCV000321636 RCV000335246 RCV000396862 RCV000282209 RCV000382299 RCV000347713 RCV000304401 RCV000281093 RCV001165460 RCV001165461 RCV001165462 RCV001167045 RCV001167046 RCV001167047 RCV001167048 RCV001167049 RCV001167629 RCV001167630 RCV001167631 RCV001167632 RCV001169528 RCV001169529 RCV001165516 RCV001165517 RCV001165518 RCV001165519 RCV001165520 RCV001167116 RCV001167117 RCV001167118 RCV001167119 RCV001167120 RCV001167695 RCV001167696 RCV001167697 RCV001169565 RCV001169566 RCV001165586 RCV001165587 RCV001165588 RCV001167181 RCV001167182 RCV001167183 RCV001167184
Thymoma	Benign	rs41301517	RCV005900436
Thyroid cancer, nonmedullary, 1	Benign	rs10120345	RCV005900434
Uterine carcinosarcoma	Benign	rs10120345	RCV005900433

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)