UniProt | Protein Name |
---|---|
O75907 |
|
GO Term | Evidence Code | PMID |
---|---|---|
long-chain fatty-acyl-CoA metabolic process | ||
diacylglycerol metabolic process | ||
lipid storage | ||
retinol metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
plasma membrane |
|
|
membrane | ||
specific granule membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
diacylglycerol O-acyltransferase activity | ||
2-acylglycerol O-acyltransferase activity | ||
acyltransferase activity |
|
|
protein binding | ||
retinol O-fatty-acyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050700 | cardiomyopathy | |
DOID:0050729 | Chanarin-Dorfman syndrome | |
DOID:0060357 | chylomicron retention disease | |
DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
DOID:0060775 | microvillus inclusion disease | |
DOID:0060776 | congenital diarrhea 5 with tufting enteropathy | |
DOID:0060777 | congenital secretory sodium diarrhea 8 | |
DOID:0060778 | congenital diarrhea 7 with exudative enteropathy | |
DOID:0060779 | congenital malabsorptive diarrhea 4 |
HPO ID | HPO Term |
---|---|
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 |
Disease ID | Disease Name |
---|---|
OMIM:615863 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
397118 | PIGXX22688 | ||
282609 | BOVIN05540 | ||
100861225 | CAPHI05036 | ||
13350 | MGI:1333825 | MOUSE16433 | |
84497 | RGD:628673 | ||
100733854 | CAVPO21578 | ||
101575480 | OCTDE17528 | ||
100018271 | MONDO19133 | ||
114039859 | VOMUR26604 | ||
100961287 | OTOGA01368 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024