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FLASH GENE
Symbol ABCA7 contributors: mct - updated : 02-01-2012
HGNC name ATP-binding cassette, sub-family A (ABC1), member 7
HGNC id 37
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two ATP binding cassettes with Walker A and B motifs and signature sequence
  • two transmembrane (TM) domains,(2x6 semgents)
  • an extra-cellular domain
  • HOMOLOGY
    interspecies homolog to murine Abca7
    ortholog to C.elegans ced-7
    intraspecies homolog to ABCA1
    homolog to ABCA4
    Homologene
    FAMILY
  • ATP binding cassette
  • transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text
  • apical brush border membrane localization of ABCA7 in the proximal tubule
  • endogenous ABCA7 predominantly resides on the cell surface
  • basic FUNCTION
  • macrophage transmembrane lipid transport
  • its cell surface location in the kidney suggests that it could serve such a role in tissue microenvironments
  • involved in terminal keratinocyte differentiation intracellular and regulator of ceramide transport in this process
  • playing a possible role in cellular phospholipid metabolism in peripheral tissues
  • major role of ABCA7 in the clearance of apoptotic cells
  • seems to be one of the key molecules linking sterol homeostasis and the host defense system
  • involved in the efflux of lipids from cells to lipoprotein particles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding APOA1
    cell & other
    REGULATION
    Other regulated by sterol-regulatory element binding protein (SREBF2)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Alzheimer disease
    Variant & Polymorphism SNP
  • rs3764650 strongly associated with Alzheimer disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS