POMGNT1
Gene Information
- Official Symbol: POMGNT1
- Official Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
- Aliases and Previous Symbols: N/A
- Entrez ID: 55624
- UniProt: Q8WZA1
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O- Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:11742540, ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 14390
- Expression level (log2 read counts): 5.59