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FLASH GENE
Symbol ABCB6 contributors: mct/npt/pgu - updated : 25-01-2012
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 6
HGNC id 47
Corresponding disease
CLBM2 isolated ocular coloboma 2
LANG Langereis blood group (LAN blood group)
Location 2q35      Physical location : 220.074.493 - 220.083.672
Synonym name
  • mitochondrial ABC protein 3
  • ubiquitously-expressed mammalian ABC half transporter
  • P-glycoprotein-related protein
  • Synonym symbol(s) MTABC3, ABC14, UMAT, FLJ22414, ABC, EST45597, PRP
    DNA
    TYPE functioning gene
    STRUCTURE 10.68 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure 5'- flanking region containing a CpG island, lacks an appropriately positioned TATA element and containing a number of putative transcription factor binding sites
    MAPPING cloned Y linked N status provisional
    Map cen - D2S164 - D2S295 - D2S2382 - IL8RB - IL8RA - CYP27A1 - ABCB6 - D2S163 - qter
    Authors Gene Map (98)
    Physical map
    CYP27A1 2q35-q36 cytochrome P450, family 27, subfamily A, polypeptide 1 PRKAG3 2q35 protein kinase, AMP-activated, gamma 3 non-catalytic subunit LOC391484 2 similar to 60S ribosomal protein L23a WNT6 2q35 wingless-type MMTV integration site family, member 6 WNT10A 2q35 wingless-type MMTV integration site family, member 10A LOC391485 2 similar to cytokeratin 8 CDK5R2 2q35 cyclin-dependent kinase 5, regulatory subunit 2 (p39) HSRNAFEV 2q33 cyclin-dependent kinase 5, regulatory subunit 2 (p39) CRYBA2 2q34-q36 crystallin, beta A2 DKFZp434O0527 2q36.1 hypothetical protein DKFZp434O0527 MGC35338 2q36.1 hypothetical protein MGC35338 IHH 2q35-q36 Indian hedgehog homolog (Drosophila) FLJ12610 2q36.1 hypothetical protein FLJ12610 SLC23A3 2q36.1 solute carrier family 23 (nucleobase transporters), member 3 CGI-57 2q36.1 hypothetical protein CGI-57 MGC3035 LOC130617 2q36.1 hypothetical protein BC018415 ABCB6 2q33-q36 ATP-binding cassette, sub-family B (MDR/TAP), member 6 FLJ22169 2q36.1 hypothetical protein FLJ22169 FLJ10415 2q36.1 hypothetical protein FLJ10415 MGC10771 STK16 2q34-q37 serine/threonine kinase 16 TUBA1 2q36.1 tubulin, alpha 1 (testis specific) TUBA4 2q36.2 tubulin, alpha 4 DNAJB2 2q32-q34 DnaJ (Hsp40) homolog, subfamily B, member 2 PTPRN 2q35-q36.1 protein tyrosine phosphatase, receptor type, N LOC389075 2 similar to REGULATED ENDOCRINE SPECIFIC PROTEIN 18 PRECURSOR DNPEP 2q36.3 aspartyl aminopeptidase DES 2q35 desmin APEG1 2q34 desmin LOC389076 2 similar to CAVP-target protein (CAVPT) GMPPA 2q36.1 GDP-mannose pyrophosphorylase A ACCN4 2q36.1 amiloride-sensitive cation channel 4, pituitary
    regionally located in the FGRLA critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2993 93.75 842 - 2000 10837493
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   lowly
    Endocrinepancreas   moderately
    Nervousbrain   lowly
    Reproductivemale systemprostate  moderately
    Respiratorylung   lowly
    Visualeyeretina  moderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal hydrophobic region of 220 residues that functions as a primary determinant of co-translational targeting to the endoplasmic reticulum (ER) , and a atypical site for glycosylation (NXC)
  • two ATP binding domains
  • two transmembrane (2TM) domains (2 x 6 segments)
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Abcb6 (89.4pc)
    homolog to rattus Abcb6 (88.4pc)
    ortholog to a yeast ABC protein that is located in the mitochondrial inner membrane
    intraspecies homolog to ATM1 (highly)
    Homologene
    FAMILY
  • ATP binding cassette superfamily
  • subfamily B (MDR/TAP)
  • heavy metal importer subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • localizes to ER-derived membranes, primarily the Golgi apparatus, but not exclusively in mitochondria
  • localizes to both the outer mitochondrial membrane and the plasma membrane
  • basic FUNCTION
  • ABC transporter, traffic ATPase
  • transporter of iron/sulfur from ER to cytosol, involved in iron homeostasis
  • involved in the transport heme- and/or iron-related compounds from the mitochondrial matrix into the cytosol and in regulation of iron
  • required for mitochondrial porphyrin uptake
  • may be involved in porphyrin transport
  • functionally linked to heme biosynthesis
  • plays a functional role in the plasma membrane
  • involved in haem-precursor transport across the mitochondrial membrane
  • ATP-binding cassette transporter that is highly expressed in cells resistant to arsenic
  • its expression in response to sodium arsenite might be an endogenous protective mechanism activated to protect cells against arsenite-induced oxidative stress
  • mitochondrial transporter that regulates porphyrin biosynthesis
  • plays a role in cell growth and proliferation by targeting the cell cycle
  • mitochondrial porphyrin transporter essential for heme biosynthesis, but it is also suspected to contribute to anticancer drug resistance, as do other ABC transporters located at the plasma membrane
  • having a function in the synthesis of Fe-S clusters and/or iron homeostasis
  • transports potentially a signaling molecule involved in eye development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text iron ion homeostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
    cell & other
    REGULATION
    Other up-regulated by elevation of cellular porphyrins
    ASSOCIATED DISORDERS
    corresponding disease(s) LANG , CLBM2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function
    Marker
    Therapy target
    ANIMAL & CELL MODELS