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:0050841 | focal hand dystonia | |
DOID:0050886 | Troyer syndrome | |
DOID:0060245 | Mast syndrome | |
DOID:0060246 | MASA syndrome | |
DOID:0060470 | salt and pepper syndrome | |
DOID:0060491 | SPOAN syndrome | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070113 | Niemann-Pick disease type C1 | |
DOID:0080067 | Charcot-Marie-Tooth disease type 5 | |
DOID:0080470 | developmental and epileptic encephalopathy 36 |
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 |
---|---|---|---|
102352419 | LATCH08468 | ||
394230 | ZFIN:ZDB-GENE-060322-1 | DANRE06942 | |
108269097 | ICTPU33590 | ||
113584806 | ELEEL34418 | ||
115205504 | SALTR111690 | ||
115552722 | GADMO02518 | ||
101156587 | ORYLA01383 | ||
108697625 | Xenbase:XB-GENE-17345694 | ||
108706512 | Xenbase:XB-GENE-17345695 | ||
100329191 | Xenbase:XB-GENE-955106 |
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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