UniProt | Protein Name |
---|---|
O94777 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process | ||
dolichol metabolic process | ||
protein O-linked mannosylation |
|
|
regulation of protein stability |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
dolichol-phosphate-mannose synthase complex | ||
glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme regulator activity | ||
enzyme activator activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | NP_062125 | NM_019252 |
Mus musculus | NP_034203 | NM_010073 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0060249 | scoliosis | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0080571 | congenital disorder of glycosylation Iu | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000218 | High palate |
HP:0000219 | Thin upper lip vermilion |
HP:0000243 | Trigonocephaly |
HP:0000253 | Progressive microcephaly |
HP:0000294 | Low anterior hairline |
HP:0000347 | Micrognathia |
HP:0000486 | Strabismus |
HP:0000601 | Hypotelorism |
HP:0000648 | Optic atrophy |
Disease ID | Disease Name |
---|---|
ORPHA:329178 |
|
OMIM:615042 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100070379 | HORSE23587 | ||
100522057 | PIGXX16241 | ||
523737 | BOVIN03201 | ||
102188414 | CAPHI02423 | ||
101122767 | SHEEP13418 | ||
100689294 | CRIGR16353 | ||
13481 | MGI:1330238 | MOUSE34293 | |
29640 | RGD:2514 | RATNO27739 | |
100725474 | CAVPO12448 | ||
101585915 | OCTDE20273 |
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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