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

SymbolSpecies
pomgnt1 Danio rerio
Pomgnt1 Mus musculus
Pomgnt1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO 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