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FLASH GENE
Symbol ABCB5 contributors: mct - updated : 11-10-2013
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 5
HGNC id 46
DNA
TYPE functioning gene
STRUCTURE 141.39 kb     19 Exon(s)
MAPPING cloned Y linked   status provisional
Physical map
KCND2 7q31-q32 potassium voltage-gated channel, Shal-related subfamily, member 2 CAS1 7q21.3 O-acetyltransferase RPL21 13pter-p13 ribosomal protein L21 SGCE 7q21.3 sarcoglycan, epsilon TWISTNB 7p21 TWIST neighbor MGC42090 7p21.1 hypothetical protein MGC42090 PEG10 7q21 paternally expressed 10 7A5 7p15.3 putative binding protein 7a5 LOC392955 7 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392956 7 similar to dJ133P16.1 (ADP-ribosylation factor 1) ITGB8 7p integrin, beta 8 PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A TM4SF12 7 transmembrane 4 superfamily member 12 7A5 7p15.3 putative binding protein 7a5 LOC392870 7 similar to eukaryotic translation elongation factor 1 alpha 1; CTCL tumor antigen; translation elongation factor 1 alpha 1-like 14; prostate tumor-inducing protein 1; EF1a-like protein; glucocorticoid receptor AF-1 specific elongati ING3 7q31 inhibitor of growth family, member 3 ABCB5 7p14 ATP-binding cassette, sub-family B (MDR/TAP), member 5 FLJ21986 7q31.32 hypothetical protein FLJ21986 ITGB8 7p integrin, beta 8 PON1 7q21.3 paraoxonase 1 SP8 7p21.2 Sp8 transcription factor PON3 7q21.3 paraoxonase 3 LOC392640 7 similar to ribosomal protein L23 PON2 7q21.3 paraoxonase 2 LOC392003 7 similar to eukaryotic translation elongation factor 1 alpha 1; CTCL tumor antigen; translation elongation factor 1 alpha 1-like 14; prostate tumor-inducing protein 1; EF1a-like protein; glucocorticoid receptor AF-1 specific elongati ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 WNT16 7q31 wingless-type MMTV integration site family, member 16 FAM3C 7q22.1-q31.1 family with sequence similarity 3, member C ABCB5 7p14 ATP-binding cassette, sub-family B (MDR/TAP), member 5 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC392749 7 LOC392749 LOC392978 7 similar to Cytochrome c, somatic LOC392979 7 similar to ribosomal protein L18; 60S ribosomal protein L18 SP8 7p21.2 Sp8 transcription factor LOC222901 7p15.3 similar to ribosomal protein L23 LOC392871 7 similar to argininosuccinate synthetase DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SP4 7p15.2-p14 Sp4 transcription factor PTPRZ1 7q31.3 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 DNAH11 7p15 dynein, axonemal, heavy polypeptide 11 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) LOC340274 7p15.3 similar to argininosuccinate synthetase AASS 7q31.3 aminoadipate-semialdehyde synthase RNU1P8 7p15.3 RNA, U1 small nuclear pseudogene 8 SP4 7p15.2-p14 Sp4 transcription factor LOC392980 7 similar to ribosomal protein L31 RAM2 7p15.3 transcription factor RAM2 DNAH11 7p15 dynein, axonemal, heavy polypeptide 11 LOC392779 7 similar to zinc finger protein 312; forebrain embryonic zinc finger CADPS2 7q31.1 Ca2+-dependent activator protein for secretion 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 5401 - 1257 prostate, testis 2012 2230600
  • has ATPase activity that is sensitive to docetaxel
  • 19 - 4375 - 812 highly expressed in human melanoma cells 2012 2230600
  • ABCB5beta, with a transmembrane domain and a nucleotide-binding domain
  • 6 - 1724 - 126 - 2012 2230600
    6 - 2247 - 131 - 2012 2230600
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
     male systemprostate    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two ATP binding and two transmembrane (2TM) domains (2 x 6 segments)
  • an ABC transmembrane type-1 domain
  • two transmembrane and two nucleotide-binding domains
  • HOMOLOGY
    Homologene
    FAMILY ATP binding cassette superfamily, subfamily B (MDR/TAP)
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin
  • functions as a determinant of membrane potential and regulator of cell fusion in physiologic skin progenitor cells
  • responsible for the resistance to doxorubicin of a subset of malignant melanomas
  • full-sized ABC transporter that confers anticancer drug resistance
  • acts as an energy-dependent drug efflux transporter and marks tumour cells of a putative cancer stem cell (CSC) compartment
  • its expression is closely linked to tumorigenicity and progression of diverse human malignancies, including melanoma, and is functionally required for tumor growth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in melanomas
    tumoral     --over  
    significantly associated with tumour progression and recurrence of the oral squamous cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS