POMGNT1

Last Update:2022-01-07

POMGNT1 encodes a protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-). This enzyme is a type II membrane protein that uses UDP-GlcNAc as a sugar donor and transfers GlcNAc to Man attached to Ser or Thr via α1-2 linkage. It is a glycosyltransferase involved in the biosynthesis of O-Man type glycans (Siaα2-3Galβ1-4GlcNAcβ1-2Man-) called Core M1 structure. This enzyme gene is the causative gene of muscle-eye-brain disease, a congenital muscular dystrophy.

Keyword: Core M1 ,  Muscle-eye-brain disease ,  O-mannose

N-Acetylglucosaminyltransferase


GGDB Symbol POMGNT1    Alias
Designationprotein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
OrganismHomo sapiens
GeneID 55624
HGNC POMGNT1 (19139)
mRNA NM_017739
map1p34.1
Protein NP_060209
EC#    
CAZy
GlyCosmos Glycogenes POMGNT1
OMIM 606822
Disease name Muscle-eye-brain disease ,  Santavuori disease
GDGDB CON00377   
Human Protein Atlas ENSG00000085998
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Orthologous Gene

Acceptor Substrates (Reference)

Acceptor Substrates (KEM-C)

Expression

RNA Expression from Human Protein Atlas
This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Expression (Reference)

Gene Ontology

This page does not indicate all of the enzymatic reaction, and expression of "POMGNT1".