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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


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: 132.66   (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: 132.66   (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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (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
Q8NFQ8
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
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (10)
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 (R-HSA-5083628)

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

Find Similar Targets
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
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (12)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
myeloid white cell count
1
1
1
77.7
leukocyte count
1
1
1
76.6
neutrophil count
1
1
1
76.5
red blood cell distribution width
2
1
2
67.9
glomerular filtration rate
2
1
2
63.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
myeloid white cell count
1
77.7
leukocyte count
1
76.6
neutrophil count
1
76.5
red blood cell distribution width
2
67.9
glomerular filtration rate
2
63.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
456564
Macaque
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
707205
Mouse
MGI:1915523
68273
Rat
RGD:1359396
362567
Dog
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
VGNC:54221
482511
Species
Name
OMA
EggNOG
Inparanoid
Chimp
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Macaque
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Mouse
Rat
Dog
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Publication Statistics
PubMed Score 132.66
PubMed score by year
PubTator Score 67.93
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title