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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


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: 42.05   (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: 42.05   (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
Pathways (12)
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 (R-HSA-5083633)

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

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
Protein-Protein Interactions (94)
1 – 10 of 94
CD244
Tbio
Novelty: 0.00484738
p_int: 0.99994816
p_ni: 0.00005184
Data Source: BioPlex
RFTN2
Tdark
Novelty: 1.69230769
p_int: 0.998237909
p_ni: 0.001762091
Score: 0.177
Data Source: BioPlex,STRINGDB
UPK1A
Tbio
Novelty: 0.02382993
p_int: 0.995026478
p_ni: 0.004973522
Data Source: BioPlex
HFE
Tbio
Novelty: 0.00040976
p_int: 0.994460578
p_ni: 0.005539422
Data Source: BioPlex
PCDHA4
Tdark
Novelty: 0.6
p_int: 0.994222211
p_ni: 0.005777789
Data Source: BioPlex
APOC3
Tclin
Novelty: 0.00116356
p_int: 0.982499625
p_ni: 0.017500375
Data Source: BioPlex
NRG1
Tbio
Novelty: 0.00114197
p_int: 0.98139285
p_ni: 0.01860715
Data Source: BioPlex
NCEH1
Tchem
Family: Enzyme
Novelty: 0.02418747
p_int: 0.96782878
p_ni: 0.032171219
Data Source: BioPlex
GGT7
Tbio
Family: Enzyme
Novelty: 0.0180475
p_int: 0.966890341
p_ni: 0.033109659
Data Source: BioPlex
GABRA3
Tclin
Family: IC
Novelty: 0.02993035
p_int: 0.962375539
p_ni: 0.037624461
Data Source: BioPlex
Publication Statistics
PubMed Score  42.05

PubMed score by year
PubTator Score  53.74

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGH
1-70
MVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLM
70-140
LIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFT
140-210
YVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLF
210-280
FYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPM
280-350
IYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP
350-420
LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQ
420-490
LEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDD
490-560
SEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQ
560-630
DAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSA
630-700
LVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH
700-747
MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH