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:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0060857 | septooptic dysplasia | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080033 | craniometaphyseal dysplasia | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0080102 | congenital myopathy 4A | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 |
HPO ID | HPO Term |
---|---|
HP:0001290 | Generalized hypotonia |
HP:0001302 | Pachygyria |
HP:0001305 | Dandy-Walker malformation |
HP:0001315 | Reduced tendon reflexes |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001319 | Neonatal hypotonia |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001321 | Cerebellar hypoplasia |
HP:0001324 | Muscle weakness |
HP:0001328 | Specific learning disability |
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