GlyCosmos Portal

Submissions

bile acid-CoA:amino acid N-acyltransferase

Summary

Gene Symbol

BAAT

Aliases

BAT
glycine N-choloyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

570

HGNC

932

KEGG Gene ID

hsa:570

PubChem

570

Alliance of Genome Resources

HGNC:932

Annotation

Keyword

Acyltransferase
Cytoplasm
Direct protein sequencing
Disease variant
Fatty acid metabolism
Peroxisome
Phosphoprotein
Reference proteome
Serine esterase

Proteins

Displaying 1 entry
UniProt	Protein Name
Q14032	Bile acid-CoA thioesterase Choloyl-CoA hydrolase Glycine N-choloyltransferase Long-chain fatty-acyl-CoA hydrolase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 9** of 9 in total

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GO Term	Evidence Code	PMID
bile acid conjugation	IDA	12810727 2037576 8034703
bile acid biosynthetic process	IDA TAS	12810727 8034703
bile acid metabolic process
liver development	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

amide metabolic process [inference]

acyl-CoA metabolic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

taurine metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

sulfur compound metabolic process [inference]

alkanesulfonate metabolic process [inference]

taurine metabolic process

thioester metabolic process [inference]

acyl-CoA metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

thioester metabolic process [inference]

acyl-CoA metabolic process

carbohydrate derivative metabolic process [inference]

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

taurine metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound metabolic process [inference]

bile acid metabolic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

sulfur compound metabolic process [inference]

alkanesulfonate metabolic process [inference]

taurine metabolic process

thioester metabolic process [inference]

acyl-CoA metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

developmental process [inference]

anatomical structure development [inference]

regeneration [inference]

animal organ regeneration

animal organ development [inference]

animal organ regeneration

gland development [inference]

liver development

Displaying **all 4** entries
GO Term	Evidence Code	PMID
intracellular membrane-bounded organelle	IDA
cytosol	IDA TAS	12810727 17256745 8034703
peroxisome	IBA IDA	17256745
peroxisomal matrix

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

microbody lumen [inference]

peroxisomal matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

microbody [inference]

peroxisome

intracellular organelle [inference]

intracellular membrane-bounded organelle

microbody [inference]

peroxisome

Displaying entries **6 - 10** of 10 in total

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GO Term	Evidence Code	PMID
long-chain acyl-CoA hydrolase activity	IDA	12810727
carboxylic ester hydrolase activity	IEA
very long chain acyl-CoA hydrolase activity	IDA	12810727
choloyl-CoA hydrolase activity	IEA
medium-chain acyl-CoA hydrolase activity	IDA	12810727

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

thiolester hydrolase activity [inference]

CoA hydrolase activity [inference]

choloyl-CoA hydrolase activity

acyl-CoA hydrolase activity

carboxylic ester hydrolase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K00659

Name

bile acid-CoA:amino acid N-acyltransferase [EC:2.3.1.65 3.1.2.2]

References

Rhea

RHEA:14001

glycine + choloyl-CoA

H⁺ + glycocholate + CoA

Enzyme

2.3.1.65

PMID

RHEA:31511

H₂O + chenodeoxycholoyl-CoA

H⁺ + chenodeoxycholate + CoA

Enzyme

3.1.2.27

PMID

RHEA:14541

H₂O + choloyl-CoA

H⁺ + cholate + CoA

Enzyme

3.1.2.27

PMID

RHEA:16305

H₂O + (3S)-hydroxy-3-methylglutaryl-CoA

H⁺ + 3-hydroxy-3-methylglutarate + CoA

Enzyme

PMID

13563516

RHEA:16645

H₂O + hexadecanoyl-CoA

H⁺ + CoA + hexadecanoate

Enzyme

3.1.2.2

PMID

Disease

Disease Ontology

Displaying entries **81 - 90** of **153** in total

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DO ID	Disease Name	Source
DOID:11612	polycystic ovary syndrome	DisGeNET
DOID:11634	myxedema	DisGeNET
DOID:11725	Cornelia de Lange syndrome	DisGeNET
DOID:11847	coronary thrombosis	DisGeNET DisGeNET
DOID:11981	morbid obesity	DisGeNET
DOID:11983	Prader-Willi syndrome	DisGeNET
DOID:12347	osteogenesis imperfecta	DisGeNET
DOID:12361	Graves' disease	DisGeNET
DOID:1247	blood coagulation disease	DisGeNET
DOID:12531	von Willebrand's disease	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying **all 9** entries
HPO ID	HPO Term
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

Displaying 1 entry
Disease ID	Disease Name
OMIM:619232	bile acid conjugation defect 1

PubChem Disease

MedGen Diseases

Bile acid conjugation defect 1

OMIM Phenotypes

BILE ACID CONJUGATION DEFECT 1; BACD1

KEGG Diseases

Familial hypercholanemia

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000423
Gene Name: bile acid CoA:amino acid N-acyltransferase

Ortholog

Displaying entries **1 - 10** of 52 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	172309	WB:WBGene00020258
Caenorhabditis elegans	172725	WB:WBGene00007857
Caenorhabditis elegans	187017	WB:WBGene00019404
Caenorhabditis elegans	189157	WB:WBGene00020989
Latimeria chalumnae	102356569		LATCH00753
Latimeria chalumnae	102363365		LATCH03004
Xenopus laevis	108707337	Xenbase:XB-GENE-17333935
Xenopus tropicalis	100125079	Xenbase:XB-GENE-5872601
Sarcophilus harrisii	100924464		SARHA12241
Cercocebus atys	105593023		CERAT33259

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements