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:0060261 | congenital ptosis | |
DOID:0060305 | megalocornea | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0110213 | isolated cleft palate | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A |
HPO ID | HPO Term |
---|---|
HP:0002119 | Ventriculomegaly |
HP:0002120 | Cerebral cortical atrophy |
HP:0002126 | Polymicrogyria |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002169 | Clonus |
HP:0002198 | Dilated fourth ventricle |
HP:0002282 | Gray matter heterotopia |
HP:0002350 | Cerebellar cyst |
HP:0002353 | EEG abnormality |
HP:0002355 | Difficulty walking |
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 |
---|---|---|---|
105573696 | CERAT32380 | ||
705454 | MACMU29533 | ||
105480447 | MACNE07039 | ||
101018643 | PAPAN24657 | ||
105540343 | MANLE07261 | ||
101142350 | GORGO29480 | ||
100986111 | PANPA27885 | ||
460378 | PANTR31162 | ||
100436355 | PONAB25882 | ||
100856660 | CANLF07498 |
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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