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FLASH GENE
Symbol ABCB7 contributors: mct/npt - updated : 21-03-2019
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 7
HGNC id 48
DNA
TYPE functioning gene
STRUCTURE 103.03 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - DXS56 - ATRX ATRX - ATP7A - PGK1 - DXS7497 - GPR23 - DXS1225 - DXS1105 - DXS566 - DXS447 - DXS1197 - DXS986 - VDAC1P - ABCB7 - DXS72 - SH3BGRL - DXS169 - DXS26 - DXS995 - POU3F4 - DXS232 - qter
Authors Villard (99)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 2404 82.64 753 - 2005 15772651
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one ATP binding site
  • one transmembrane domains (6 segments) (half-type ATP binding cassette), constituent of mitochondria (the N terminus containing the information for targeting and import into the organelle)
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Abc7
    homolog to yeast Atm1p
    Homologene
    FAMILY
  • ATP binding cassette superfamily
  • subfamily B (MDR/TAP)
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • half-ABC transporter, traffic ATPase, mitochondrial iron transport, involved in iron homeostasis
  • export a mitochondrially derived metabolite required for cytosolic Fe-S cluster assembly
  • involved in multidrug resistance as well as antigen presentation
  • essential for hematopoiesis
  • regulates not only the expression of extramitochondrial thioredoxin but also that of an intramitochondrial iron-sulfur-containing protein ferratase
  • may be required for mitochondrial iron homeostasis in neural cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text iron homeostasis
    PATHWAY
    metabolism
    signaling
    a component
  • a dimeric ferrochelatase physically bridged ABCB7 and ABCB10 homodimers by binding near the NBDs of each ABC transporter
  • INTERACTION
    DNA
    RNA
    small molecule
    protein putative interaction between ABCB7 and FECH
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASAT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in Refractory Anemia with Ring Sideroblasts (RARS)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS