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:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
DOID:0110423 | dilated cardiomyopathy 1C | |
DOID:0110424 | dilated cardiomyopathy 1CC | |
DOID:0110426 | dilated cardiomyopathy 1D | |
DOID:0110427 | dilated cardiomyopathy 1V | |
DOID:0110428 | dilated cardiomyopathy 1AA | |
DOID:0110429 | dilated cardiomyopathy 1H | |
DOID:0110430 | dilated cardiomyopathy 1G |
HPO ID | HPO Term |
---|---|
HP:0008981 | Calf muscle hypertrophy |
HP:0009917 | Persistent pupillary membrane |
HP:0010508 | Metatarsus valgus |
HP:0010628 | Facial palsy |
HP:0010864 | Intellectual disability, severe |
HP:0011463 | Childhood onset |
HP:0011712 | Right bundle branch block |
HP:0011968 | Feeding difficulties |
HP:0012110 | Hypoplasia of the pons |
HP:0012400 | Abnormal circulating aldolase concentration |
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 |
---|---|---|---|
104677614 | RHIRO02536 | ||
100597409 | NOMLE22074 | ||
114591575 | PODMU07547 | ||
107561547 | SINGR85093 | ||
107594797 | SINGR29323 | ||
107594854 | SINGR29323 | ||
106830956 | EQUAS06127 | ||
116837464 | CHEAB00941 | ||
105819892 | PROCO01384 | ||
851210 | SGD:S000000021 |
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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