Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)

Gene names: POMGNT2 , AGO61, C3orf39, EOGTL, GTDC2
Protein names and data: PMGT2_HUMAN , Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; POMGnT2; 2.4.1.- , Extracellular O-linked N-acetylglucosamine transferase-like; Glycosyltransferase-like domain-containing protein 2 Lenght: 580 a.a.
Mass: 66615 Da
fasta formatted sequence

Function: O-linked mannose beta-1,4-N- acetylglucosaminyltransferase that tranfers UDP-N-acetyl-D- glucosamine to the 4-position of the mannose to generate N-acetyl- D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha- dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.
Catalytic activity: UDP-N-acetyl-alpha-D-glucosamine + O-alpha-D- mannosylprotein = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-O- alpha-D-mannosylprotein.
Pathway: Protein modification; protein glycosylation.
Cellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Tissue specificity: Highly expressed in the brain, muscle, heart, and kidney in both fetus and adult. In the brain, highest expression in the cortex and cerebellum. Highly expressed in the pancreas.

Genetic variants

Database cross-references

UniProt: Q8NAT1
Ensembl: ENST00000344697
Ensembl: ENST00000441964
MIM: 614828
MIM: 614830
neXtProt: NX_Q8NAT1
Antibodypedia: Q8NAT1 (may not find the protein thus also not any antibody)
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