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:0060270 | pontocerebellar hypoplasia type 2D | |
DOID:0060276 | pontocerebellar hypoplasia type 7 | |
DOID:0060277 | pontocerebellar hypoplasia type 8 | |
DOID:0060278 | pontocerebellar hypoplasia type 9 | |
DOID:0060287 | cornea plana | |
DOID:0060305 | megalocornea | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060673 | Peters anomaly | |
DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
DOID:0060823 | syndromic X-linked intellectual disability 94 |
HPO ID | HPO Term |
---|---|
HP:0003324 | Generalized muscle weakness |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003327 | Axial muscle weakness |
HP:0003457 | EMG abnormality |
HP:0003549 | Abnormality of connective tissue |
HP:0003551 | Difficulty climbing stairs |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0003560 | Muscular dystrophy |
HP:0003577 | Congenital onset |
HP:0003593 | Infantile onset |
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 |
---|---|---|---|
122222981 | PANLE19506 | ||
101325250 | TURTR06927 | ||
118889780 | BALMU30689 | ||
100655255 | LOXAF16119 | ||
100059121 | HORSE22862 | ||
100155173 | PIGXX32898 | ||
537054 | BOVIN01780 | ||
102169594 | CAPHI00094 | ||
217734 | MGI:2444430 | MOUSE08074 | |
688673 | RGD:1586427 | RATNO35671 |
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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