UniProt | Protein Name |
---|---|
Q96N66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
layer formation in cerebral cortex | ||
lipid modification | ||
phosphatidylcholine acyl-chain remodeling | ||
ventricular system development | ||
phosphatidylinositol biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
mitochondria-associated endoplasmic reticulum membrane | ||
endoplasmic reticulum membrane |
|
|
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
1-acylglycerol-3-phosphate O-acyltransferase activity |
|
|
O-acyltransferase activity | ||
protein binding | ||
2-acylglycerol-3-phosphate O-acyltransferase activity |
|
|
lysophospholipid acyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060041 | autism spectrum disorder | |
DOID:0060262 | gallbladder disease | |
DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0081219 | autosomal recessive intellectual developmental disorder 57 | |
DOID:10534 | stomach cancer | |
DOID:10588 | adrenoleukodystrophy | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:10908 | hydrocephalus |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000729 | Autistic behavior |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0001276 | Hypertonia |
HP:0001290 | Generalized hypotonia |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
Disease ID | Disease Name |
---|---|
OMIM:617188 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
181252 | WB:WBGene00008806 | ||
33900 | FB:FBgn0031815 | ||
102360410 | LATCH10327 | ||
393509 | ZFIN:ZDB-GENE-040426-1516 | DANRE10886 | |
103043354 | ASTMX10631 | ||
108264261 | ICTPU13308 | ||
108264268 | ICTPU13311 | ||
108264271 | ICTPU13313 | ||
108264277 | ICTPU13314 | ||
113573079 | ELEEL08907 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024