UniProt | Protein Name |
---|---|
Q9UNP4 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycosphingolipid biosynthetic process | ||
protein glycosylation | ||
ganglioside biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
lactosylceramide alpha-2,3-sialyltransferase activity | ||
beta-galactoside (CMP) alpha-2,3-sialyltransferase activity | ||
sialyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | NP_112627 | NM_031337 |
Mus musculus | NP_035505 | NM_011375 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0090047 | paroxysmal nonkinesigenic dyskinesia 2 | |
DOID:0090049 | paroxysmal nonkinesigenic dyskinesia 1 | |
DOID:0110763 | hereditary spastic paraplegia 10 | |
DOID:0110764 | hereditary spastic paraplegia 11 | |
DOID:0110765 | hereditary spastic paraplegia 12 | |
DOID:0110766 | hereditary spastic paraplegia 13 | |
DOID:0110767 | hereditary spastic paraplegia 14 | |
DOID:0110768 | hereditary spastic paraplegia 15 | |
DOID:0110769 | hereditary spastic paraplegia 16 | |
DOID:0110770 | hereditary spastic paraplegia 17 |
HPO ID | HPO Term |
---|---|
HP:0001336 | Myoclonus |
HP:0001344 | Absent speech |
HP:0001508 | Failure to thrive |
HP:0002013 | Vomiting |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002133 | Status epilepticus |
HP:0002283 | Global brain atrophy |
HP:0002376 | Developmental regression |
HP:0002395 | Lower limb hyperreflexia |
HP:0003593 | Infantile onset |
Disease ID | Disease Name |
---|---|
OMIM:609056 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102453544 | PELSI11095 | ||
100561853 | ANOCA14281 | ||
103671460 | URSMA00494 | ||
114041817 | VOMUR29761 | ||
113901305 | BOBOX20203 | ||
100951715 | OTOGA04099 | ||
777948 | TAKRU09708 | ||
102024023 | CHILA07609 | ||
105731265 | AOTNA35009 | ||
101033571 | SAIBB36697 |
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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