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:0110792 | hereditary spastic paraplegia 4 | |
DOID:0110793 | hereditary spastic paraplegia 41 | |
DOID:1206 | Rett syndrome | |
DOID:0110794 | hereditary spastic paraplegia 42 | |
DOID:0110795 | hereditary spastic paraplegia 43 | |
DOID:0110796 | hereditary spastic paraplegia 44 | |
DOID:0110797 | hereditary spastic paraplegia 45 | |
DOID:0110798 | hereditary spastic paraplegia 46 | |
DOID:0110800 | hereditary spastic paraplegia 48 | |
DOID:0110801 | hereditary spastic paraplegia 49 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000365 | Hearing impairment |
HP:0000572 | Visual loss |
HP:0000648 | Optic atrophy |
HP:0000737 | Irritability |
HP:0001034 | Hypermelanotic macule |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001266 | Choreoathetosis |
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