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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 **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
animal organ regeneration	IEA
fatty acid metabolic process	IBA
taurine metabolic process	IDA	8034703
glycine metabolic process	IDA	8034703
acyl-CoA metabolic process	IBA IDA	12810727

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 **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
acyl-CoA hydrolase activity	IBA
N-acyltransferase activity	IDA	12239217
glycine N-choloyltransferase activity	IDA	12810727 2037576 8034703
acyltransferase activity
protein binding	IPI	25416956 32814053

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 **31 - 40** of **153** in total

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DO ID	Disease Name	Source
DOID:0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	DisGeNET
DOID:0110336	osteogenesis imperfecta type 8	DisGeNET
DOID:0110337	osteogenesis imperfecta type 7	DisGeNET
DOID:0110338	osteogenesis imperfecta type 17	DisGeNET
DOID:0110339	osteogenesis imperfecta type 3	DisGeNET
DOID:0110340	osteogenesis imperfecta type 4	DisGeNET
DOID:0110341	osteogenesis imperfecta type 2	DisGeNET
DOID:0110342	osteogenesis imperfecta type 13	DisGeNET
DOID:0110343	osteogenesis imperfecta type 14	DisGeNET
DOID:0110344	osteogenesis imperfecta type 5	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 **41 - 50** of 52 in total

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Species	Gene ID	Orthologous MAtrix
Phascolarctos cinereus	110219134	PHACI01366
Saimiri boliviensis boliviensis	101036806	SAIBB32774
Ictidomys tridecemlineatus	101974093	ICTTR00673
Jaculus jaculus	101608698	JACJA08396
Chlorocebus sabaeus	103219118	CHLSB03179
Rhinopithecus bieti	108537176	RHIBE07424
Rhinopithecus roxellana	104670797	RHIRO20208
Nomascus leucogenys	100598200	NOMLE18037
Equus asinus asinus	106831794	EQUAS17133
Pteropus vampyrus	105296291	PTEVA10944

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