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: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 |
---|---|---|---|
100016377 | MONDO06207 | ||
102459251 | PELSI10183 | ||
114048467 | VOMUR14890 | ||
113901764 | BOBOX19592 | ||
105859860 | MICMU05105 | ||
100958735 | OTOGA07800 | ||
101067746 | TAKRU30013 | ||
102021696 | CHILA21508 | ||
105721102 | AOTNA09891 | ||
110198909 | PHACI05282 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024