You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
POMT1
Protein O-mannosyl-transferase 1

Protein Summary
Description
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000341012
  • ENSP00000343034
  • ENSG00000130714
  • ENST00000372228
  • ENSP00000361302
  • ENST00000402686
  • ENSP00000385797
  • ENST00000404875
  • ENSP00000384531
  • ENST00000423007
  • ENSP00000404119

Symbol
  • RT
  • LGMD2K
  • MDDGA1
  • MDDGB1
  • MDDGC1
  • LGMDR11
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.95
phenotype
0.75
transcription factor binding site profile
0.74
cellular component
0.72
histone modification site profile
0.71


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: 54.93   (req: < 5)
Gene RIFs: 27   (req: <= 3)
Antibodies: 173   (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: 54.93   (req: >= 5)
Gene RIFs: 27   (req: > 3)
Antibodies: 173   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
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 Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
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 (94)
CD244
Tbio
Novelty:  0.01137579
p_int:  0.99994816
p_ni:  0.00005184
Data Source:  BioPlex
RFTN2
Tdark
Novelty:  0.99330616
p_int:  0.998237909
p_ni:  0.001762091
Score:  0.177
Data Source:  BioPlex,STRINGDB
UPK1A
Tbio
Novelty:  0.01748122
p_int:  0.995026478
p_ni:  0.004973522
Data Source:  BioPlex
HFE
Tbio
Novelty:  0.00042077
p_int:  0.994460578
p_ni:  0.005539422
Data Source:  BioPlex
PCDHA4
Tdark
Novelty:  0.30511211
p_int:  0.994222211
p_ni:  0.005777789
Data Source:  BioPlex
APOC3
Tclin
Novelty:  0.0009635
p_int:  0.982499625
p_ni:  0.017500375
Data Source:  BioPlex
NRG1
Tbio
Novelty:  0.00095246
p_int:  0.98139285
p_ni:  0.01860715
Data Source:  BioPlex
NCEH1
Tchem
Family:  Enzyme
Novelty:  0.01528589
p_int:  0.96782878
p_ni:  0.032171219
Data Source:  BioPlex
GGT7
Tbio
Family:  Enzyme
Novelty:  0.01374716
p_int:  0.966890341
p_ni:  0.033109659
Data Source:  BioPlex
GABRA3
Tclin
Family:  IC
Novelty:  0.02180091
p_int:  0.962375539
p_ni:  0.037624461
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (12)
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 (R-HSA-5083633)

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

Find Similar Targets
Items per page:
1 – 5 of 8
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
Reactome
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Reactome
Disease
Reactome
Diseases associated with O-glycosylation of proteins
Reactome
Diseases of glycosylation
Name
Explore in Pharos
Explore in Source
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Disease
Diseases associated with O-glycosylation of proteins
Diseases of glycosylation
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
advanced glycosylation end product-specific receptor ligand measurement
1
1
1
80.5
smoking status measurement
2
1
2
55.2
1
1
0
1.1
21.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
advanced glycosylation end product-specific receptor ligand measurement
1
80.5
smoking status measurement
2
55.2
0
1.1
21.5
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
protein O-mannosyltransferase 1
VGNC:4826
473076
Macaque
protein O-mannosyl-transferase 1-like
106993586
Mouse
MGI:2138994
99011
Rat
RGD:620078
84430
Dog
protein O-mannosyltransferase 1
VGNC:44810
608039
Species
Name
OMA
EggNOG
Inparanoid
Chimp
protein O-mannosyltransferase 1
Macaque
protein O-mannosyl-transferase 1-like
Mouse
Rat
Dog
protein O-mannosyltransferase 1
Publication Statistics
PubMed Score 54.93
PubMed score by year
PubTator Score 53.74
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title