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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
Gene Name
Ensembl ID
  • ENST00000371984
  • ENSP00000361052
  • ENSG00000085998
  • ENST00000371992
  • ENSP00000361060

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


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: 131.98   (req: < 5)
Gene RIFs: 25   (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: 131.98   (req: >= 5)
Gene RIFs: 25   (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
Protein Data Bank (10)
1 – 5 of 10
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (10)
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 (R-HSA-5083628)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
Reactome
Disease
Reactome
Diseases associated with O-glycosylation of proteins
Reactome
Diseases of glycosylation
Reactome
Metabolism of proteins
Name
Explore in Pharos
Explore in Source
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
Disease
Diseases associated with O-glycosylation of proteins
Diseases of glycosylation
Metabolism of proteins
Protein-Protein Interactions (67)
1 – 10 of 67
TMEM95
Tdark
Novelty: 0.32261678
p_int: 0.995522012
p_ni: 0.004477988
Data Source: BioPlex
RANBP6
Tdark
Novelty: 0.75714796
p_int: 0.990072775
p_ni: 0.009927225
Data Source: BioPlex
MME
Tclin
Family: Enzyme
Novelty: 0.00019144
p_int: 0.981334051
p_ni: 0.018665949
Score: 0.185
Data Source: BioPlex,STRINGDB
RXYLT1
Tbio
Novelty: 0.14843707
p_int: 0.960780173
p_ni: 0.039219827
Score: 0.887
Data Source: BioPlex,STRINGDB
MCOLN3
Tchem
Family: IC
Novelty: 0.03209262
p_int: 0.94160497
p_ni: 0.05839503
Data Source: BioPlex
ATP6V0A2
Tbio
Family: Enzyme
Novelty: 0.00504614
p_int: 0.934258703
p_ni: 0.065741297
Score: 0.233
Data Source: BioPlex,STRINGDB
TOR1AIP2
Tbio
Novelty: 0.08912351
p_int: 0.932435282
p_ni: 0.067564718
Data Source: BioPlex
CLEC2D
Tbio
Novelty: 0.02501194
p_int: 0.917084377
p_ni: 0.082915623
Data Source: BioPlex
IL7R
Tbio
Novelty: 0.00107223
p_int: 0.90812915
p_ni: 0.09187085
Data Source: BioPlex
HLA-DRA
Tbio
Novelty: 0.0060214
p_int: 0.873455327
p_ni: 0.126544673
Data Source: BioPlex
Publication Statistics
PubMed Score  131.98

PubMed score by year
PubTator Score  67.93

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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