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FLASH GENE
Symbol ICA1 contributors: mct - updated : 07-03-2015
HGNC name islet cell autoantigen 1, 69kDa
HGNC id 5343
Location 7p22      Physical location : 8.152.816 - 8.302.185
Synonym name
  • diabetes mellitus type I autoantigen
  • slet cell autoantigen 1 isoform
  • Islet cell autoantigen p69
  • Synonym symbol(s) ICA69, ICA6, ICAp69, p69
    DNA
    TYPE functioning gene
    STRUCTURE 149.37 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1427 - 257 - Pietropaolo
    lack exons 8-12 and 4
    - - 2139 - 483 - Pietropaolo
    lack exon 4
    - - 1964 - 87 - Pietropaolo
    truncated isoform
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   highly
    Endocrinepancreas   highly
     thyroid    
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal half contains a BAR domain, a module that can bind/bend membranes and interacts with phospholipids
  • HOMOLOGY
    interspecies homolog to murine Ica1
    Homologene
    FAMILY
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • enriched in the Golgi complex
  • basic FUNCTION
  • autoantigen associated with insulin-dependent diabetes mellitus
  • is a novel RAB2A effector having a role in regulating the early transport of insulin secretory granule proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB2A binds to ICA1 in a GTP-dependent fashion and recruits it to membranes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate autoimmune target in insulin dependent diabetes
    Marker
    Therapy target
    ANIMAL & CELL MODELS