Property Summary

NCBI Gene PubMed Count 34
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 4.9e-06
osteosarcoma -1.308 9.4e-04

Protein-protein Interaction (1)

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)
18647264 We conclude that a significant increase of POMT1 missense mutations may indicate a functional role in neoplastic conditions in individual glioneuronal and glial brain tumors.
18513969 Thirteen CMD patients showed mutations in POMT1, But normal brain MRI associated with mental retardation and microcephaly. mutations in POMT1 (six out of 13).
18513969 Observational study of gene-disease association. (HuGE Navigator)
17878207 Observational study of genotype prevalence. (HuGE Navigator)
17869517 In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations.
17079174 An inverse Alu-repeated DNA element within exon 3 is associated with Walker Warburg syndrome in French Caucasian families.
16887026 Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes.
16698797 human protein O-mannosyltransferases 1 and 2 form heterocomplexes which possess protein O-mannosyltransferase activity
15792865 the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation.
15522202 Results indicate that mutations in the protein O-mannosyltransferase 1 gene result in a defect of protein O-mannosylation in Walker-Warburg syndrome patients.
15037715 The authors report on a patient with Walker-Warburg syndrome and a novel POMT1 mutation. The patient expressed alpha-dystroglycan core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with loss of laminin-binding activity
14699049 active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain
12757935 Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
12369018 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18647264 2009 Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.
18513969 2008 POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
17079174 2007 Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.
16887026 2006 Walker-Warburg syndrome.
16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.
16698797 2006 Physical and functional association of human protein O-mannosyltransferases 1 and 2.
16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15792865 2005 An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
15522202 2004 Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
15037715 2004 POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14699049 2004 Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
12925572 2003 Glycosylation defects: a new mechanism for muscular dystrophy?
12757935 2003 Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
10366449 1999 Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.