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FLASH GENE
Symbol PGAP1 contributors: mct - updated : 27-12-2018
HGNC name post-GPI attachment to proteins factor 1
HGNC id 25712
Corresponding disease
MRT42 mental retardation, autosomal recessive 42
SPG67 spastic paraplegia 67
Location 2q33.1      Physical location : 197.697.728 - 197.791.454
Synonym name
  • GPI deacylase
  • GPI inositol-deacylase
    • Synonym symbol(s) UNQ3024/PRO9822, Bst1, ISPD3024, MRT42, SPG67, FLJ42774
    DNA
    TYPE functioning gene
    STRUCTURE 93.99 kb     27 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 11113 - 922 - 2015 25804403
    26 - 11058 - 533 - 2015 25804403
    28 - 11198 - 748 - 2015 25804403
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a lipase consensus motif
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • PGAP1 encoded an ER-associated, 922-amino acid membrane protein bearing a lipase consensus motif, that is the GPI inositol-deacylase
  • the remodeling requires the preceding PGAP1-mediated deacylation from inositol of GPI-APs in the endoplasmic reticulum
  • PGAP1 is a deacylase that removes an acyl-chain from the inositol of GPI anchors in the endoplasmic reticulum immediately after attachment of GPI to proteins
  • protein localized in the endoplasmic reticulum responsible for the first step of the remodeling of glycosylphosphatidylinositol
  • soon after GPI is attached, an acyl chain on the GPI inositol is removed by post-GPI attachment to proteins 1 (PGAP1), a GPI-inositol deacylase
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG67 , MRT42
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS