Tbio POMGNT1 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Protein Summary

Description

Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. 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 Accession IDs

• Q8WZA1
• D3DQ16
• Q5VST2
• Q5VST3
• Q9BV55
• Q9H9L8
• Q9NXF9
• Q9NYF7
• POMGnT1

Gene Name

• POMGNT1

Ensembl ID

• ENST00000371984
• ENSP00000361052
• ENSG00000085998
• ENST00000371992
• ENSP00000361060

Symbol

• MGAT1.2
• MEB
• RP76
• GNTI.2
• LGMD2O
• GnT I.2
• LGMDR15
• MGAT1.2
• gnT-I.2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.98
transcription factor perturbation	0.84
phenotype	0.7
tissue	0.65
tissue sample	0.63

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.22   (req: < 5)

Gene RIFs: 30   (req: <= 3)

Antibodies: 99   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.22   (req: >= 5)

Gene RIFs: 30   (req: > 3)

Antibodies: 99   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0