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FLASH GENE
Symbol PIGM contributors: mct - updated : 10-10-2022
HGNC name phosphatidylinositol glycan anchor biosynthesis, class M
HGNC id 18858
Corresponding disease
PIGMD glycosylphosphatidylinositol deficiency
Location 1q23.2      Physical location : 159.997.461 - 160.001.783
Synonym name
  • PIG-M mannosyltransferase
  • dol-P-Man dependent GPI mannosyltransferase
  • phosphatidylinositol-glycan biosynthesis class M protein
  • Synonym symbol(s) GPI-MT-I, GPI-MT1, MGC29896
    EC.number 2.4.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 7.04 kb     1 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure five putative binding motifs, Sp1 and GATA1 binding site, but no TATA box
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 7038 49.3 423 - 2018 29764287
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinesmall intestine  highly
    Hearing/Equilibriumear   highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ten transmembrane domains
  • a conserved DXD motif in a hydrophilic region following the first transmembrane domain, that binds manganese and has a role in binding nucleotide sugar substrates
  • HOMOLOGY
    interspecies homolog to rattus Pigm (91 pc)
    homolog to murine Pigm (89.8 pc)
    Homologene
    FAMILY
  • PIGM family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • facing the lumen
  • multi-pass membrane protein
  • basic FUNCTION
  • involved in glycosylphosphatidylinositol-anchor biosynthesis (first step)
  • transfering the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly on the lumenal side of the endoplasmic reticulum
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    glycolipid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PIGMD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS