Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.3.1.20
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
diacylglycerol O-acyltransferase
2.3.1.76
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
retinol O-fatty-acyltransferase
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0046339 | diacylglycerol metabolic process |
Biological Process | GO:0055089 | fatty acid homeostasis |
Biological Process | GO:0019915 | lipid storage |
Biological Process | GO:0035336 | long-chain fatty-acyl-CoA metabolic process |
Biological Process | GO:0006640 | monoacylglycerol biosynthetic process |
Biological Process | GO:0019432 | triglyceride biosynthetic process |
Biological Process | GO:0006641 | triglyceride metabolic process |
Biological Process | GO:0034379 | very-low-density lipoprotein particle assembly |
Molecular Function | GO:0003846 | 2-acylglycerol O-acyltransferase activity |
Molecular Function | GO:0016746 | acyltransferase activity |
Molecular Function | GO:0004144 | diacylglycerol O-acyltransferase activity |
Molecular Function | GO:0042802 | identical protein binding |
Molecular Function | GO:0050252 | retinol O-fatty-acyltransferase activity |
Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
Cellular Component | GO:0016020 | membrane |
Cellular Component | GO:0005886 | plasma membrane |
Cellular Component | GO:0035579 | specific granule membrane |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-1482883 | Acyl chain remodeling of DAG and TAG | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
R-HSA-75109 | Triglyceride biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Endoplasmic reticulum membrane | ECO:0000250 | PubMed:32433610 |
Endoplasmic reticulum membrane | ECO:0000250 | PubMed:32433611 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001508 | Failure to thrive |
HP:0002013 | Vomiting |
HP:0002014 | Diarrhea |
HP:0002243 | Protein-losing enteropathy |
HP:0003073 | Hypoalbuminemia |
HP:0003077 | Hyperlipidemia |
HP:0003124 | Hypercholesterolemia |
HP:0003623 | Neonatal onset |
HP:0011473 | Villous atrophy |
HP:0011848 | Abdominal colic |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
congenital diarrhea 7 with exudative enteropathy | MONDO:0014375 | P78 | chapter16, Certain conditions originating in the perinatal period | OMIM:615863 | Orphanet:329242 |