POMGNT1

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]

Description

Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Tissue specificity

Low tissue specificity

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

1 (46188682 - 46220305)

Ensembl ID

ENSG00000085998  (ver. 103.38)

Orthologs

Mouse Pomgnt1: ENSMUSG00000028700

UniProt

Q8WZA1

neXtProt

NX_Q8WZA1

Human splice variants
Mouse splice variants

Protein structure