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:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
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:0110632 | megaconial type congenital muscular dystrophy | |
DOID:0110633 | rigid spine muscular dystrophy 1 | |
DOID:0110634 | congenital muscular dystrophy 1B | |
DOID:11719 | oculopharyngeal muscular dystrophy | |
DOID:0110635 | muscular dystrophy-dystroglycanopathy type B5 |
HPO ID | HPO Term |
---|---|
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
HP:0000298 | Mask-like facies |
HP:0000340 | Sloping forehead |
HP:0000347 | Micrognathia |
HP:0000358 | Posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000411 | Protruding ear |
HP:0000413 | Atresia of the external auditory canal |
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 |
---|---|---|---|
101050475 | SAIBB01932 | ||
101958738 | ICTTR18203 | ||
101613601 | JACJA05557 | ||
102432287 | MYOLU16670 | ||
117031875 | RHIFE21369 | ||
100221491 | TAEGU06568 | ||
101818924 | FICAL06139 | ||
103239729 | CHLSB02951 | ||
108513932 | RHIBE15606 | ||
104669759 | RHIRO02201 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024