UniProt | Protein Name |
---|---|
Q96AD5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
lipid droplet fusion | ||
positive regulation of triglyceride catabolic process | ||
acylglycerol acyl-chain remodeling |
|
|
negative regulation of sequestering of triglyceride | ||
retinol metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen |
|
|
cytosol | ||
cytoplasm | ||
lipid droplet | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
mono-olein transacylation activity | ||
phospholipase A2 activity | ||
acylglycerol O-acyltransferase activity | ||
triglyceride lipase activity | ||
diolein transacylation activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0111135 | congenital generalized lipodystrophy type 1 | |
DOID:0111136 | congenital generalized lipodystrophy type 2 | |
DOID:0111137 | congenital generalized lipodystrophy type 3 | |
DOID:0111138 | congenital generalized lipodystrophy type 4 | |
DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
DOID:0111412 | exudative vitreoretinopathy 1 | |
DOID:10003 | sensorineural hearing loss | |
DOID:10283 | prostate cancer | |
DOID:10286 | prostate carcinoma | |
DOID:1029 | familial periodic paralysis |
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 |
---|---|---|---|
100438169 | PONAB04421 | ||
112924122 | VULVU17649 | ||
123775516 | URSAM14338 | ||
101692455 | MUSPF01058 | ||
101082263 | FELCA24129 | ||
101328621 | TURTR05176 | ||
118900116 | BALMU09850 | ||
100049704 | PIGXX16519 | ||
100860889 | CAPHI19629 | ||
100753746 | CRIGR19745 |
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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