UniProt | Protein Name |
---|---|
Q9Y6A1 |
|
A0A140VKE0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of protein O-linked glycosylation | ||
protein O-linked glycosylation | ||
extracellular matrix organization | ||
protein O-linked mannosylation |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
membrane | ||
sarcoplasmic reticulum | ||
acrosomal vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
dolichyl-phosphate-mannose-protein mannosyltransferase activity | ||
mannosyltransferase activity | ||
metal ion binding |
Species | Protein | mRNA |
---|---|---|
Saccharomyces cerevisiae | NP_010188 | NC_001136.6 |
Rattus norvegicus | NP_445858 | NM_053406 |
Drosophila melanogaster | NP_524025 | NM_079301 |
Mus musculus | NP_660127 | NM_145145 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050453 | lissencephaly | |
DOID:0050463 | campomelic dysplasia | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050700 | cardiomyopathy | |
DOID:0050777 | Joubert syndrome | |
DOID:0060249 | scoliosis |
HPO ID | HPO Term |
---|---|
HP:0003327 | Axial muscle weakness |
HP:0003388 | Easy fatigability |
HP:0003391 | Gowers sign |
HP:0003394 | Muscle spasm |
HP:0003457 | EMG abnormality |
HP:0003458 | EMG: myopathic abnormalities |
HP:0003549 | Abnormality of connective tissue |
HP:0003551 | Difficulty climbing stairs |
HP:0003557 | Increased variability in muscle fiber diameter |
HP:0003560 | Muscular dystrophy |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:899 |
|
ORPHA:370968 |
|
OMIM:236670 |
|
ORPHA:86812 |
|
OMIM:613155 |
|
ORPHA:370959 |
|
OMIM:609308 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115545406 | GADMO51495 | ||
108699937 | Xenbase:XB-GENE-6488680 | ||
448433 | Xenbase:XB-GENE-944435 | ||
101953904 | CHRPI10469 | ||
109313955 | CROPO20198 | ||
113443932 | PSETE16668 | ||
101796417 | ANAPP22025 | ||
100541989 | MELGA05253 | ||
103818989 | SERCA14509 | ||
100075192 | ORNAN20687 |
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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