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:0050214 | Lambert-Eaton myasthenic syndrome | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050700 | cardiomyopathy | |
DOID:0060249 | scoliosis | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0060260 | ptosis |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000054 | Micropenis |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
HP:0000218 | High palate |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0000467 | Neck 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 |
---|---|---|---|
183400 | WB:WBGene00016583 | ||
40599 | FB:FBgn0037279 | ||
103176754 | CALMI10811 | ||
102359278 | LATCH03221 | ||
445097 | ZFIN:ZDB-GENE-040801-234 | DANRE22403 | |
103040139 | ASTMX00781 | ||
108255040 | ICTPU16618 | ||
113572399 | ELEEL11483 | ||
115149997 | SALTR34613 | ||
101163000 | ORYLA14536 |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024