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:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U |
HPO ID | HPO Term |
---|---|
HP:0006899 | Fusion of the cerebellar hemispheres |
HP:0006913 | Frontal cortical atrophy |
HP:0006955 | Olivopontocerebellar hypoplasia |
HP:0007015 | Poor gross motor coordination |
HP:0007033 | Cerebellar dysplasia |
HP:0007126 | Proximal amyotrophy |
HP:0007204 | Diffuse white matter abnormalities |
HP:0007256 | Abnormal pyramidal sign |
HP:0007260 | Type II lissencephaly |
HP:0007291 | Posterior fossa cyst |
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 |
---|---|---|---|
100717943 | CAVPO10297 | ||
100022191 | MONDO02309 | ||
102463352 | PELSI02011 | ||
100566915 | ANOCA00141 | ||
114030163 | VOMUR11989 | ||
113899160 | BOBOX22184 | ||
100959521 | OTOGA14370 | ||
101064230 | TAKRU35182 | ||
102013869 | CHILA10524 | ||
105734138 | AOTNA11281 |
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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