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:0110815 | hereditary spastic paraplegia 64 | |
DOID:0110816 | hereditary spastic paraplegia 7 | |
DOID:0110817 | hereditary spastic paraplegia 72A | |
DOID:0110818 | hereditary spastic paraplegia 73 | |
DOID:0110820 | hereditary spastic paraplegia 75 | |
DOID:0110822 | hereditary spastic paraplegia 77 | |
DOID:0110823 | hereditary spastic paraplegia 8 | |
DOID:0110824 | hereditary spastic paraplegia 9A | |
DOID:0110825 | hereditary spastic paraplegia 9B | |
DOID:0111414 | trichohepatoenteric syndrome |
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 |
---|---|---|---|
107571828 | SINGR88962 | ||
106838594 | EQUAS22677 | ||
115050401 | ECHNA28364 | ||
115405773 | SALFA00185 | ||
113479340 | ATHCN08260 | ||
105810293 | PROCO21224 | ||
109045093 | CYPCA89717 | ||
103739804 | NANGA11986 | ||
116444185 | CORMO21561 | ||
103266514 | CARSF28774 |
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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