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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
Location 19p13.3      Physical location : 1.040.101 - 1.065.568
Synonym symbol(s) ABCX, ABCA-SSN
DNA
TYPE functioning gene
SPECIAL FEATURE opposite orientation
STRUCTURE 25.47 kb     47 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
Binding site   transcription factor
text structure arranged head to tail with antigen HA1-(KIAA0223)
MAPPING cloned Y linked N status provisional
Physical map
KIAA1957 19p13.3 KIAA1957 FLJ40059 19p13.3 hypothetical protein FLJ40059 MADCAM1 19p13.3 mucosal vascular addressin cell adhesion molecule 1 LOC91978 19p13.3 hypothetical gene supported by BC009520 CDC34 19p13.3 cell division cycle 34 GZMM 19p13.3 granzyme M (lymphocyte met-ase 1) BSG 19p13.3 basigin (OK blood group) HCN2 19p13.3 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 POLRMT 19p13.3 polymerase (RNA) mitochondrial (DNA directed) FGF22 19p13.3 fibroblast growth factor 22 RNF126 19p13.3 ring finger protein 126 FSTL3 19p13 follistatin-like 3 (secreted glycoprotein) PALM 19p13.3 paralemmin LOC126353 19p13.3 hypothetical protein LOC126353 PTBP1 19p13.3 polypyrimidine tract binding protein 1 FLJ11535 19p13.3 hypothetical protein FLJ11535 AZU1 19p13.3 azurocidin 1 (cationic antimicrobial protein 37) PRTN3 19p13.3 proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen) ELA2 19p13.3 elastase 2, neutrophil DF 19p13.3 D component of complement (adipsin) TRAP95 MGC16353 19p13.3 hypothetical protein MGC16353 GPR54 19p13.3 G protein-coupled receptor 54 DRIL1 19p13.3 dead ringer-like 1 (Drosophila) WDR18 19p13.3 WD repeat domain 18 GRIN3B 19p13.3 glutamate receptor, ionotropic, N-methyl-D-aspartate 3B C19orf6 19p13.3 chromosome 19 open reading frame 6 CNN2 21q11 calponin 2 ABCA7 19p13.3 ATP-binding cassette, sub-family A (ABC1), member 7 HA-1 19p13.3 ATP-binding cassette, sub-family A (ABC1), member 7 POLR2E 19p13.3 polymerase (RNA) II (DNA directed) polypeptide E, 25kDa GPX4 19p13.3 glutathione peroxidase 4 (phospholipid hydroperoxidase) KIAA0963 19p13.3 Homo sapiens KIAA0963 protein (KIAA0963), mRNA. STK11 19p13.3 serine/threonine kinase 11 (Peutz-Jeghers syndrome) MGC40084 19p13.3 hypothetical protein MGC40084 ATP5D 19p13.3 ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit MIDN 19pter-p13.3 midnolin MGC39338 19p13.3 hypothetical protein MGC39338 CIRBP 19p13.3-p13.2 cold inducible RNA binding protein FLJ20640 19p13.3 hypothetical protein FLJ20640 EFNA2 19p13.3 ephrin-A2 LOC388488 19 similar to Dip1-associated protein C MUM-1 NDUFS7 19p13 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) GAMT 19p13.3 guanidinoacetate N-methyltransferase DAZAP1 19p13.3 DAZ associated protein 1 RPS15 19p13.3 ribosomal protein S15 APCL 19p13.3 ribosomal protein S15 FLJ36666 19p13.3 hypothetical protein FLJ36666 PCSK4 19p proprotein convertase subtilisin/kexin type 4 DP1L1 19p13.3 polyposis locus protein 1-like 1
RNA
TRANSCRIPTS type messenger
text alternative splicing involved in the transcriptional regulation of the expression and function of ABCA7
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
47 - 6834 225 2146 - Kaminski, Ikeda
  • ABCA7-Ia or type I
  • localized to the plasma membrane
  • involved in APOA1 dependent cholesterol and phosphpolipid release
  • - splicing 6170 211 2008 - Kaminski, Ikeda
  • mainly localized to the endoplasmic reticulum
  • not involved in APOA1 dependent cholesterol and phosphpolipid release
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Nervousbrainlimbic systemhippocampus highly Homo sapiens
    Urinarykidneytubuleconvoluted tubuleproximal tubule  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Lymphoid/Immunemacrophage
    Nervousneuron Homo sapiens
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    cell cycle     cell cycle
    Text liver
    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