UniProt | Protein Name |
---|---|
Q9Y5P6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein glycosylation | ||
GDP-mannose biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
mannose-1-phosphate guanylyltransferase (GTP) activity | ||
GTP binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110881 | holoprosencephaly 1 | |
DOID:0111233 | congenital muscular dystrophy-dystroglycanopathy A14 | |
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:1029 | familial periodic paralysis | |
DOID:10293 | monocular esotropia | |
DOID:10375 | strabismic amblyopia | |
DOID:10376 | amblyopia |
HPO ID | HPO Term |
---|---|
HP:0002359 | Frequent falls |
HP:0002363 | Abnormal brainstem morphology |
HP:0002365 | Hypoplasia of the brainstem |
HP:0002421 | Poor head control |
HP:0002435 | Meningocele |
HP:0002460 | Distal muscle weakness |
HP:0002465 | Poor speech |
HP:0002505 | Loss of ambulation |
HP:0002515 | Waddling gait |
HP:0002518 | Abnormal periventricular white matter morphology |
Disease ID | Disease Name |
---|---|
ORPHA:363623 |
|
ORPHA:370968 |
|
ORPHA:370959 |
|
OMIM:615351 |
|
OMIM:615350 |
|
ORPHA:353327 |
|
ORPHA:588 |
|
OMIM:615352 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105823928 | PROCO00286 | ||
851504 | SGD:S000002213 | ||
109060948 | CYPCA144445 | ||
109065924 | CYPCA144445 | ||
103750182 | NANGA14017 | ||
116449609 | CORMO01659 | ||
103265510 | CARSF09751 |
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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