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:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H |
HPO ID | HPO Term |
---|---|
HP:0000612 | Iris coloboma |
HP:0000618 | Blindness |
HP:0000648 | Optic atrophy |
HP:0000659 | Peters anomaly |
HP:0000707 | Abnormality of the nervous system |
HP:0001105 | Retinal atrophy |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001256 | Intellectual disability, mild |
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