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FLASH GENE
Symbol POMT1 contributors: mct/shn - updated : 02-07-2019
HGNC name protein-O-mannosyltransferase 1
HGNC id 9202
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three MIR domain
  • seven-transmembrane helices and four potential N-glycosylation sites
    • HOMOLOGY
    interspecies ortholog to Pomt1, Mus musculus
    ortholog to Pomt1, Rattus norvegicus
    ortholog to POMT1, Pan troglodytes
    ortholog to pomt1, Danio rerio
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • putative integral constituent of the endoplasmic reticulum membrane involved in O-mannosylation of proteins (essential to the alpha- dystroglycan stability)
  • POMT1 and POMT2 catalyzes the initial step of O-mannosyl glycan biosynthesis
  • POMT1 and POMT2 have discrete functions since the effect of amino acid substitutions on enzymatic activity are different
  • with POMT2, are responsible for the catalysis of the first step in O-mannosyl glycan synthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text catalysis of the first step in O-mannosyl glycan synthesis
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS1 , LGMD2K
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9.5 with defects in the formation of Reichert's membrane
  • Amino acid substitution in POMT1 abolished enzymatic activity