Property Summary

NCBI Gene PubMed Count 34
Grant Count 6
R01 Count 3
Funding $328,960.92
PubMed Score 38.03
PubTator Score 53.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
osteosarcoma -1.308 0.001

Gene RIF (24)

PMID Text
26245304 Inhibition of POMT1/2 in human mesencyhmal stem cells , resulted in complete abolishment of chondrogenesis and alterations of adipogenic and osteogenic potential together with a lethal effect during myogenic induction.
24491487 report of 2 male siblings and an unrelated female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities; a novel missense mutation (c.1958C>T; p.Pro653Leu) was identified
22549409 Three patients with heterozygous POMT1 mutations showed left ventricular (LV) dilation and/or decrease in myocardial contractile force.
21782786 the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied.
20816175 the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis
20634891 Observational study of gene-disease association. (HuGE Navigator)
19880378 the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex.
19639522 pyramidal neurons frequently displayed abnormal (oblique, horizontal, or inverted) orientation in a 2.5-month-old infant with Walker-Warburg syndrome homozygotic for a novel POMT1 gene mutation
19519795 A double homozygous mutation in the POMT1 gene in two unrelated Gypsy families, is reported.
19299310 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGH      1 - 70
MVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLM     71 - 140
LIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFT    141 - 210
YVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLF    211 - 280
FYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPM    281 - 350
IYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP    351 - 420
LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQ    421 - 490
LEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDD    491 - 560
SEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQ    561 - 630
DAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSA    631 - 700
LVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH                           701 - 747
//

Text Mined References (35)

PMID Year Title
26245304 2016 Protein O-mannosylation is crucial for human mesencyhmal stem cells fate.
24491487 2014 A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
21782786 2011 Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.
20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
19880378 2010 Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
19639522 2009 POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
19519795 2009 A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
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