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FLASH GENE
Symbol GPAA1 contributors: mct - updated : 11-09-2019
HGNC name glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)
HGNC id 4446
Corresponding disease
GPIBD15 glycosylphosphatidylinositol biosynthesis defect 15
Location 8q24.3      Physical location : 145.137.523 - 145.141.118
Synonym name
  • anchor attachment protein 1 (Gaa1p, yeast) homolog
  • GPI transamidase subunit
  • GPAA1P anchor attachment protein 1 homolog (yeast)
  • GPAA1 protein homolog
    • Synonym symbol(s) GAA1, GPIBD15, hGAA1
    DNA
    TYPE functioning gene
    STRUCTURE 3.58 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 - 2058 67.5 621 - 2017 29100095
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid    Homo sapiens
    Urinarykidney    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cytoplasmic N terminus and a large luminal loop between its first two transmembrane spans
  • a siggnal peptide
  • a GPI transamidase, component domain
  • two phosphorylation sites
  • two N-glysocylation sites
  • a leucine zipper motif
  • eight transmembrane segments (TM8)
    • HOMOLOGY
    interspecies homolog to yeast Gaa1p
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • likely is passively retained in the ER by a signalless mechanism
    • basic FUNCTION
  • glycosylphosphatidylinositol anchor attachment protein 1
  • is predicted to be the enzyme that catalyzes the attachment of the glycosylphosphatidyl (GPI) lipid anchor to the carbonyl intermediate of the substrate protein at the omega-site
  • is the subunit of the GPI transamidase that transfers the GPI anchor to proteins within the ER
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component putative component of GPItransamidase (see PIGK)
    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) GPIBD15
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in gastric cancer
    tumoral     --over  
    in patients with colorectal cancer, which indicates that it might play an important role in the proliferation, invasion, and metastasis of colorectal cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • GPAA1 could be a promising diagnostic biomarker for gastric cancer
    • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivestomach
    therapeutic target for gastric cancer
    ANIMAL & CELL MODELS