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: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 |
---|---|---|---|
175910 | WB:WBGene00015484 | ||
32436 | FB:FBgn0030607 | ||
39611 | FB:FBgn0036449 | ||
101887155 | ZFIN:ZDB-GENE-120913-3 | DANRE28091 | |
103029861 | ASTMX02193 | ||
113588195 | ELEEL40974 | ||
105018061 | ESOLU55487 | ||
115197722 | SALTR11881 | ||
115551187 | GADMO60603 | ||
103466503 | POERE29095 |
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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