MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.3.1.65	Transferases; Acyltransferases; Transferring groups other than aminoacyl groups; bile acid-CoA:amino acid N-acyltransferase
3.1.2.2	Hydrolases; Acting on ester bonds; Thioester hydrolases; palmitoyl-CoA hydrolase
3.1.2.27	Hydrolases; Acting on ester bonds; Thioester hydrolases; choloyl-CoA hydrolase

GO ontology	GO term	GO description
Biological Process	GO:0006637	acyl-CoA metabolic process
Biological Process	GO:0031100	animal organ regeneration
Biological Process	GO:0006699	bile acid biosynthetic process
Biological Process	GO:0002152	bile acid conjugation
Biological Process	GO:0008206	bile acid metabolic process
Biological Process	GO:0006631	fatty acid metabolic process
Biological Process	GO:0006544	glycine metabolic process
Biological Process	GO:0001889	liver development
Biological Process	GO:0019530	taurine metabolic process
Molecular Function	GO:0016410	N-acyltransferase activity
Molecular Function	GO:0047617	acyl-CoA hydrolase activity
Molecular Function	GO:0016746	acyltransferase activity
Molecular Function	GO:0052689	carboxylic ester hydrolase activity
Molecular Function	GO:0033882	choloyl-CoA hydrolase activity
Molecular Function	GO:0047963	glycine N-choloyltransferase activity
Molecular Function	GO:0052816	long-chain acyl-CoA hydrolase activity
Molecular Function	GO:0052815	medium-chain acyl-CoA hydrolase activity
Molecular Function	GO:0102991	myristoyl-CoA hydrolase activity
Molecular Function	GO:0016290	palmitoyl-CoA hydrolase activity
Molecular Function	GO:0052817	very long chain acyl-CoA hydrolase activity
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005782	peroxisomal matrix
Cellular Component	GO:0005777	peroxisome

InterPro	InterPro name
IPR006862	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase
IPR014940	BAAT/Acyl-CoA thioester hydrolase C-terminal
IPR016662	Acyl-CoA thioesterase, long chain
IPR029058	Alpha/Beta hydrolase fold
IPR042490	Acyl-CoA thioester hydrolase/BAAT, N-terminal

Pfam	Pfam name
PF04775	Acyl-CoA thioester hydrolase/BAAT N-terminal region
PF08840	BAAT / Acyl-CoA thioester hydrolase C terminal

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-159418	Recycling of bile acids and salts	Leaf	R-HSA-1430728	Metabolism
R-HSA-193368	Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	Leaf	R-HSA-1430728	Metabolism
R-HSA-9033241	Peroxisomal protein import	Internal node	R-HSA-9609507	Protein localization

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000952	Jaundice
HP:0001399	Hepatic failure
HP:0002240	Hepatomegaly
HP:0002748	Rickets
HP:0002908	Conjugated hyperbilirubinemia
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0011463	Childhood onset
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration

Tissue	Cell type	Expression level	Reliability
gallbladder	glandular cells	Medium	Enhanced
liver	hepatocytes	Medium	Enhanced

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
obsolete familial hypercholanemia	MONDO:0011905	E88	chapter4, Endocrine, nutritional and metabolic diseases
atypical hemolytic-uremic syndrome	MONDO:0016244	D58	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism		Orphanet:2134
typical hemolytic-uremic syndrome	MONDO:0019536	D59	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism		Orphanet:90038
bile acid conjugation defect 1	MONDO:0030991	E88	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:619232
hypercholanemia- familial 1	MONDO:0031446	E88	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:607748	Orphanet:238475