UniProt | Protein Name |
---|---|
P17900 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosphingolipid catabolic process | ||
maintenance of location in cell | ||
lipid transport | ||
oligosaccharide catabolic process | ||
learning or memory |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
cytosol | ||
extracellular region | ||
apical plasma membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
sphingolipid activator protein activity | ||
beta-N-acetylgalactosaminidase activity | ||
phospholipase activator activity | ||
lipid transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050741 | alcohol dependence | |
DOID:0050742 | nicotine dependence | |
DOID:0060185 | Clostridium difficile colitis | |
DOID:0060490 | Schimke immuno-osseous dysplasia | |
DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
DOID:11832 | visual epilepsy | |
DOID:12377 | spinal muscular atrophy | |
DOID:12859 | choreatic disease | |
DOID:1289 | neurodegenerative disease | |
DOID:1307 | dementia |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000618 | Blindness |
HP:0000719 | Inappropriate behavior |
HP:0000726 | Dementia |
HP:0000739 | Anxiety |
HP:0000741 | Apathy |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001276 | Hypertonia |
Disease ID | Disease Name |
---|---|
OMIM:272750 |
|
ORPHA:309246 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103184129 | CALMI29066 | ||
550529 | ZFIN:ZDB-GENE-050417-373 | DANRE08052 | |
103029073 | ASTMX04734 | ||
108269376 | ICTPU34090 | ||
113573404 | ELEEL13235 | ||
106612259 | SALSA138714 | ||
115167280 | SALTR42759 | ||
115205716 | SALTR111262 | ||
115552419 | GADMO01205 | ||
100699750 | ORENI46099 |
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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