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:0002540 | Inability to walk |
HP:0002650 | Scoliosis |
HP:0002827 | Hip dislocation |
HP:0002828 | Multiple joint contractures |
HP:0002878 | Respiratory failure |
HP:0002938 | Lumbar hyperlordosis |
HP:0003198 | Myopathy |
HP:0003200 | Ragged-red muscle fibers |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003325 | Limb-girdle muscle weakness |
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 |
---|---|---|---|
100689938 | ORENI59621 | ||
115583970 | SPAAU41798 | ||
447346 | Xenbase:XB-GENE-922662 | ||
100037186 | Xenbase:XB-GENE-6255238 | ||
493267 | Xenbase:XB-GENE-922650 | ||
101934259 | CHRPI24410 | ||
109318261 | CROPO25358 | ||
113454477 | PSETE02832 | ||
103816951 | SERCA11185 | ||
100397938 | CALJA11912 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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