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:0110636 | congenital merosin-deficient muscular dystrophy 1A | |
DOID:0110637 | muscular dystrophy-dystroglycanopathy type B6 | |
DOID:0110639 | congenital muscular dystrophy due to integrin alpha-7 deficiency | |
DOID:0110640 | congenital muscular dystrophy due to LMNA mutation | |
DOID:0110881 | holoprosencephaly 1 | |
DOID:0111237 | congenital muscular dystrophy-dystroglycanopathy type A1 | |
DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
DOID:0111531 | bilateral optic nerve hypoplasia | |
DOID:0112374 | muscular dystrophy-dystroglycanopathy | |
DOID:10003 | sensorineural hearing loss |
HPO ID | HPO Term |
---|---|
HP:0000541 | Retinal detachment |
HP:0000545 | Myopia |
HP:0000556 | Retinal dystrophy |
HP:0000557 | Buphthalmos |
HP:0000568 | Microphthalmia |
HP:0000580 | Pigmentary retinopathy |
HP:0000587 | Abnormal optic nerve morphology |
HP:0000589 | Coloboma |
HP:0000609 | Optic nerve hypoplasia |
HP:0000612 | Iris coloboma |
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 |
---|---|---|---|
100583229 | NOMLE34793 | ||
114589142 | PODMU25647 | ||
107555474 | SINGR40435 | ||
107587516 | SINGR41920 | ||
106845381 | EQUAS24919 | ||
116835235 | CHEAB00508 | ||
115049333 | ECHNA22083 | ||
115397557 | SALFA06411 | ||
113486530 | ATHCN17880 | ||
105806586 | PROCO11226 |
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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