• Gene id: 570

Gene Summary

• Gene Symbol: BAAT   Gene   UCSC   Ensembl
• Aliases: BACAT, BAT
• Gene name: bile acid-CoA:amino acid N-acyltransferase
• Alternate names: bile acid-CoA:amino acid N-acyltransferase, bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase), bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase), bile acid-CoA thioesterase, choloyl-CoA hydrolase, long-c,
• Gene location: 9q31.1 (101385005: 101360416)     Exons: 6     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 602938

SNPs

rs2270641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20180955T>C
NC_000008.11   g.20180955T>G
NC_000008.10   g.20038466T>C
NC_000008.10   g.20038466T>G
NM_003053.4   c.10A>G
NM_003053.4   c.10A>C
NM_003053.3   c.10A>G
NM_003053.3   c.10A>C
NM_001135691.2   c.10A>G
NM_001135691.2   c.10A>C
NM_001142324.1   c

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

rs1390938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20179202A>G
NC_000008.10   g.20036713A>G
NM_003053.4   c.407T>C
NM_003053.3   c.407T>C
NM_001135691.2   c.407T>C
NM_001142324.1   c.407T>C
NM_001142324.2   c.407T>C
NM_001142325.1   c.407T>C
XM_011544625.1   c.407T>C
XM_011544626.1   c.407T>C
NP_003044.  

Protein Summary

• Protein general information: Q14032  
  • 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)
  • Length: 418  
  • Mass: 46299
  • Tissue specificity: Expressed in liver, gallbladder mucosa and pancreas. {ECO
• Sequence:

  MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMFYSQAHYRANEFGEVDLNHASSLGGDYMGVHP
  MGLFWSLKPEKLLTRLLKRDVMNRPFQVQVKLYDLELIVNNKVASAPKASLTLERWYVAPGVTRIKVREGRLRGA
  LFLPPGEGLFPGVIDLFGGLGGLLEFRASLLASRGFASLALAYHNYEDLPRKPEVTDLEYFEEAANFLLRHPKVF
  GSGVGVVSVCQGVQIGLSMAIYLKQVTATVLINGTNFPFGIPQVYHGQIHQPLPHSAQLISTNALGLLELYRTFE
  TTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKNNWTLLSYPGAGHLIEPPYSPLCCAS
  TTHDLRLHWGGEVIPHAAAQEHAWKEIQRFLRKHLIPDVTSQL

• Structural information:
  • Interpro: IPR029058  IPR016662  IPR014940  IPR006862  IPR042490  
  • STRING: ENSP00000259407
• Other Databases: GeneCards:  BAAT  Malacards:  BAAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047617	acyl-CoA hydrolase activity	IBA	molecular function
GO:0006637	acyl-CoA metabolic process	IBA	biological process
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0005777	peroxisome	IBA	cellular component
GO:0047963	glycine N-choloyltransferase activity	IDA	molecular function
GO:0002152	bile acid conjugation	IDA	biological process
GO:0006637	acyl-CoA metabolic process	IEA	biological process
GO:0016790	thiolester hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0033882	choloyl-CoA hydrolase activity	IEA	molecular function
GO:0102991	myristoyl-CoA hydrolase activity	IEA	molecular function
GO:0016290	palmitoyl-CoA hydrolase activity	IEA	molecular function
GO:0047963	glycine N-choloyltransferase activity	IEA	molecular function
GO:0016410	N-acyltransferase activity	IDA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0008206	bile acid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0016746	transferase activity, transferring acyl groups	TAS	molecular function
GO:0016746	transferase activity, transferring acyl groups	TAS	molecular function
GO:0016746	transferase activity, transferring acyl groups	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0047963	glycine N-choloyltransferase activity	IEA	molecular function
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0016410	N-acyltransferase activity	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0002152	bile acid conjugation	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0031100	animal organ regeneration	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0052816	long-chain acyl-CoA hydrolase activity	IDA	molecular function
GO:0047963	glycine N-choloyltransferase activity	IDA	molecular function
GO:0047963	glycine N-choloyltransferase activity	IDA	molecular function
GO:0006699	bile acid biosynthetic process	IDA	biological process
GO:0006544	glycine metabolic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0052817	very long chain acyl-CoA hydrolase activity	IDA	molecular function
GO:0006637	acyl-CoA metabolic process	IDA	biological process
GO:0052815	medium-chain acyl-CoA hydrolase activity	IDA	molecular function
GO:0019530	taurine metabolic process	IDA	biological process
GO:0006699	bile acid biosynthetic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0002152	bile acid conjugation	IDA	biological process
GO:0002152	bile acid conjugation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa04976	Bile secretion
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00120	Primary bile acid biosynthesis
hsa00430	Taurine and hypotaurine metabolism

Diseases

Associated diseases	References
Familial hypercholanemia	KEGG:H01935
Familial hypercholanemia	KEGG:H01935
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)