protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Symbol
POMGNT1
(may also be known as: None)
Organism
Human
Description
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Orthologs
| Symbol | Species | |
|---|---|---|
| pomgnt1 | Danio rerio | |
| Pomgnt1 | Mus musculus | |
| Pomgnt1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006487 | protein N-linked glycosylation | biological_process | |
| GO:0006493 | protein O-linked glycosylation | biological_process | |
| GO:0000139 | Golgi membrane | cellular_component | |
| GO:0005792 | microsome | cellular_component | |
| GO:0005794 | Golgi apparatus | cellular_component | |
| GO:0016020 | membrane | cellular_component | |
| GO:0016021 | integral to membrane | cellular_component | |
| GO:0003827 | alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity | molecular_function | |
| GO:0016757 | transferase activity, transferring glycosyl groups | molecular_function | |
| GO:0047223 | beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity | molecular_function | |