UniProt | Protein Name |
---|---|
Q96AD5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
diacylglycerol biosynthetic process | ||
triglyceride catabolic process | ||
intracellular triglyceride homeostasis | ||
lipid droplet disassembly | ||
lipid storage |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen |
|
|
cytosol | ||
cytoplasm | ||
lipid droplet | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
retinyl-palmitate esterase activity | ||
protein binding | ||
lipoprotein lipase activity |
|
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050819 | obsolete Matthew-Wood syndrome | |
DOID:0060158 | acquired metabolic disease | |
DOID:0060318 | acute promyelocytic leukemia | |
DOID:0060357 | chylomicron retention disease | |
DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
DOID:0080001 | bone disease | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080365 | endometrial hyperplasia | |
DOID:0110035 | Alzheimer's disease 2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000467 | Neck muscle weakness |
HP:0000478 | Abnormality of the eye |
HP:0000819 | Diabetes mellitus |
HP:0001082 | Cholecystitis |
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
ORPHA:565612 |
|
OMIM:610717 |
|
ORPHA:98908 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100294555 | MELGA10659 | ||
103824075 | SERCA21509 | ||
103168938 | ORNAN18075 | ||
100408814 | CALJA04997 | ||
105577222 | CERAT20301 | ||
102141858 | MACFA08168 | ||
700824 | MACMU09042 | ||
101013650 | PAPAN05556 | ||
101145251 | GORGO01809 | ||
450937 | PANTR01948 |
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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