UniProt | Protein Name |
---|---|
Q9UKY4 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of protein O-linked glycosylation | ||
reactive gliosis | ||
basement membrane organization | ||
dentate gyrus development | ||
protein O-linked mannosylation |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
cytosol | ||
endoplasmic reticulum membrane | ||
nucleolus | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
dolichyl-phosphate-mannose-protein mannosyltransferase activity | ||
mannosyltransferase activity | ||
metal ion binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_345709 | XM_345709 |
Drosophila melanogaster | NP_569858 | NM_130502 |
Caenorhabditis elegans | NP_491320 | NM_058919 |
Mus musculus | NP_700464 | NM_153415 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0111240 | congenital muscular dystrophy-dystroglycanopathy type A2 | |
DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
DOID:0111531 | bilateral optic nerve hypoplasia | |
DOID:0112374 | muscular dystrophy-dystroglycanopathy | |
DOID:0112380 | muscular dystrophy-dystroglycanopathy type B2 | |
DOID:1029 | familial periodic paralysis | |
DOID:10488 | imperforate anus | |
DOID:10584 | retinitis pigmentosa | |
DOID:1059 | intellectual disability | |
DOID:10629 | microphthalmia |
HPO ID | HPO Term |
---|---|
HP:0001262 | Excessive daytime somnolence |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
HP:0001284 | Areflexia |
HP:0001288 | Gait disturbance |
HP:0001290 | Generalized hypotonia |
HP:0001302 | Pachygyria |
Disease ID | Disease Name |
---|---|
OMIM:613150 |
|
ORPHA:899 |
|
ORPHA:370968 |
|
OMIM:613156 |
|
OMIM:613158 |
|
OMIM:236670 |
|
ORPHA:370959 |
|
ORPHA:588 |
|
ORPHA:206559 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
110208286 | PHACI12689 | ||
101029111 | SAIBB07889 | ||
101965122 | ICTTR06996 | ||
101603724 | JACJA00385 | ||
118286495 | SCOMX11241 | ||
102419171 | MYOLU03819 | ||
117023371 | RHIFE32248 | ||
101820143 | FICAL04903 | ||
103229387 | CHLSB11633 | ||
108534960 | RHIBE05689 |
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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