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FLASH GENE
Symbol PIGS contributors: np/mct - updated : 25-10-2018
HGNC name phosphatidylinositol glycan anchor biosynthesis, class S
HGNC id 14937
Corresponding disease
GPIBD18 glycosylphosphatidylinositol biosynthesis defect 18
Location 17q11.2      Physical location : 26.880.405 - 26.898.887
Synonym name
  • phosphatidylinositol glycan, class S
  • GPI transamidase subunit
  • GPI transamidase component PIG-S
  • Synonym symbol(s) DKFZp686K20216, FLJ45226, GPIBD18
    DNA
    TYPE functioning gene
    STRUCTURE 18.48 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2873 - 555 - 2001 11483512
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to S.cerevisiae gpi17p
    Homologene
    FAMILY
  • PIGS family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • required for attachment of GPI anchor to proteins, transamidase activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with PIGK, PIGI, GAA1
  • PIGS and PIGT are components of the GPI transamidase complex and are essential for the formation of the carbonyl intermediates necessary when the transamidase complex transfers the GPI group to the protein
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PIGT, PIGU, and GPAA1 may form a core complex associated by PIGS, and these four subunits may stabilize PIGK, triggering GPI anchoring reactions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GPIBD18
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS