UniProt | Protein Name |
---|---|
Q9Y5P6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein glycosylation | ||
GDP-mannose biosynthetic process | ||
GDP-mannose biosynthetic process | ||
GDP-mannose biosynthetic process | ||
GDP-mannose metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
mannose-1-phosphate guanylyltransferase (GTP) activity | ||
mannose-1-phosphate guanylyltransferase (GTP) activity | ||
mannose-1-phosphate guanylyltransferase (GTP) activity | ||
protein binding | ||
GTP binding |
Gene Ontology |
---|
GDP-mannose biosynthetic process |
GTP binding |
mannose-1-phosphate guanylyltransferase (GTP) activity |
nucleotide binding |
transferase activity |
InterPro |
---|
Hexapeptide repeat |
Mannose-1-phosphate guanyltransferase, N-terminal domain |
Nucleotide-diphospho-sugar transferases |
Nucleotidyl transferase domain |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0111233 | congenital muscular dystrophy-dystroglycanopathy type A14 | |
DOID:0112374 | muscular dystrophy-dystroglycanopathy | |
DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 |
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 |
---|---|
OMIM:615352 |
|
OMIM:615351 |
|
OMIM:615350 |
|
ORPHA:588 |
|
ORPHA:363623 |
|
ORPHA:353327 |
|
ORPHA:370959 |
|
ORPHA:370968 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
29925 | Xenbase:XB-GENE-922650 | ||
40599 | Xenbase:XB-GENE-922650 | ||
331026 | Xenbase:XB-GENE-922650 | MOUSE61930 | |
445097 | DANRE22403 | ||
460378 | PANTR31162 | ||
514161 | BOVIN17824 | ||
705454 | MACMU29533 | ||
100028039 | MONDO30686 | ||
100397938 | CALJA11912 | ||
100436355 | PONAB25882 |
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
GlyCosmos Portal v4.2.1
Last updated: April 7, 2025