UniProt | Protein Name |
---|---|
P50897 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neurotransmitter secretion | ||
negative regulation of apoptotic process | ||
brain development | ||
positive regulation of pinocytosis | ||
nervous system development |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
intracellular membrane-bounded organelle | ||
cytosol | ||
extracellular region | ||
synaptic vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
lysophosphatidic acid binding | ||
sulfatide binding | ||
palmitoyl-(protein) hydrolase activity | ||
protein binding | ||
long-chain acyl-CoA hydrolase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050817 | Stargardt disease | |
DOID:0050841 | focal hand dystonia | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0090103 | Huntington's disease-like 1 | |
DOID:0090104 | Huntington's disease-like 2 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000253 | Progressive microcephaly |
HP:0000483 | Astigmatism |
HP:0000529 | Progressive visual loss |
HP:0000543 | Optic disc pallor |
HP:0000545 | Myopia |
HP:0000546 | Retinal degeneration |
HP:0000550 | Undetectable electroretinogram |
HP:0000572 | Visual loss |
HP:0000580 | Pigmentary retinopathy |
Disease ID | Disease Name |
---|---|
ORPHA:168491 |
|
OMIM:256730 |
|
ORPHA:79263 |
|
ORPHA:79264 |
|
ORPHA:79262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
191744 | WB:WBGene00004092 | ||
31805 | FB:FBgn0030057 | ||
100177362 | CIOIN14534 | ||
102353105 | LATCH15041 | ||
406648 | ZFIN:ZDB-GENE-040426-2653 | DANRE16023 | |
103041647 | ASTMX04291 | ||
108257031 | ICTPU19059 | ||
113578429 | ELEEL22941 | ||
105027908 | ESOLU29086 | ||
115173451 | SALTR106677 |
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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