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Protein O-Mannosyltransferase 1 (POMT1)

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RT; LGMD2K; Dolichyl-phosphate-mannose--protein mannosyltransferase 1

Protein O-Mannosyltransferase 1 (POMT1)
CCC C732
HGNC 9202
MGI 2138994
PubMed 16575835
RGD 620078
UniProt Q9Y6A1
Wiki POMT1
Protein O-mannosyl-transferase 1 is an enzyme encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.
O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC732Hu01 Recombinant Protein O-Mannosyltransferase 1 (POMT1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC732Hu01 Polyclonal Antibody to Protein O-Mannosyltransferase 1 (POMT1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Protein O-Mannosyltransferase 1 (POMT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Mannosyltransferase 1 (POMT1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC732Mu01 Recombinant Protein O-Mannosyltransferase 1 (POMT1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC732Mu01 Polyclonal Antibody to Protein O-Mannosyltransferase 1 (POMT1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Protein O-Mannosyltransferase 1 (POMT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Mannosyltransferase 1 (POMT1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Mannosyltransferase 1 (POMT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Mannosyltransferase 1 (POMT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Mannosyltransferase 1 (POMT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Mannosyltransferase 1 (POMT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Mannosyltransferase 1 (POMT1) ELISA Kit Customized Service Offer
  1. "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."Genomics 58:171-180(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome."Am. J. Hum. Genet. 71:1033-1043(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."Proc. Natl. Acad. Sci. U.S.A. 101:500-505(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  9. "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG."Neurology 62:1009-1011(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome."Am. J. Med. Genet. A 133:53-57(2005) [PubMed] [Europe PMC] [Abstract]
  11. "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."Neuromuscul. Disord. 15:271-275(2005) [PubMed] [Europe PMC] [Abstract]
  12. "The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation."Hum. Mutat. 27:453-459(2006) [PubMed] [Europe PMC] [Abstract]
  13. "Expanding the clinical spectrum of POMT1 phenotype."Neurology 66:1564-1567(2006) [PubMed] [Europe PMC] [Abstract]
  14. "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study." Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]