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 |
---|---|---|
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:0110334 | osteogenesis imperfecta type 1 | |
DOID:0110335 | osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures | |
DOID:0110336 | osteogenesis imperfecta type 8 | |
DOID:0110337 | osteogenesis imperfecta type 7 | |
DOID:0110338 | osteogenesis imperfecta type 17 | |
DOID:0110339 | osteogenesis imperfecta type 3 | |
DOID:0110340 | osteogenesis imperfecta type 4 | |
DOID:0110341 | osteogenesis imperfecta type 2 | |
DOID:0110342 | osteogenesis imperfecta type 13 | |
DOID:0110343 | osteogenesis imperfecta type 14 |
HPO ID | HPO Term |
---|---|
HP:0008167 | Very long chain fatty acid accumulation |
HP:0009027 | Foot dorsiflexor weakness |
HP:0009046 | Difficulty running |
HP:0009055 | Generalized limb muscle atrophy |
HP:0009058 | Increased muscle lipid content |
HP:0009063 | Progressive distal muscle weakness |
HP:0009073 | Progressive proximal muscle weakness |
HP:0009805 | Low-output congestive heart failure |
HP:0011123 | Inflammatory abnormality of the skin |
HP:0011675 | Arrhythmia |
Disease ID | Disease Name |
---|---|
ORPHA:565612 |
|
OMIM:610717 |
|
ORPHA:98908 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102781054 | NEOBR08960 | ||
108229859 | KRYMA03365 | ||
105719808 | AOTNA33451 | ||
110202950 | PHACI18441 | ||
111229822 | SERDU09981 | ||
108432691 | PYGNA16012 | ||
101963589 | ICTTR18968 | ||
103141311 | POEFO08585 | ||
101605497 | JACJA05788 | ||
118316001 | SCOMX00658 |
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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