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Q2M3G0

- ABCB5_HUMAN

UniProt

Q2M3G0 - ABCB5_HUMAN

Protein

ATP-binding cassette sub-family B member 5

Gene

ABCB5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 4 (01 Oct 2014)
      Previous versions | rss
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    Functioni

    Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.4 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi421 – 4288ATPPROSITE-ProRule annotation
    Nucleotide bindingi1050 – 10578ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: RefGenome
    2. ATP binding Source: UniProtKB-KW
    3. efflux transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent Source: RefGenome
    2. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent Source: RefGenome
    3. antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent Source: RefGenome
    4. positive regulation of antigen processing and presentation of peptide antigen via MHC class I Source: RefGenome
    5. regulation of membrane potential Source: UniProtKB
    6. transmembrane transport Source: UniProtKB

    Keywords - Biological processi

    Differentiation, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_15480. ABC-family proteins mediated transport.

    Protein family/group databases

    TCDBi3.A.1.201.13. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family B member 5
    Alternative name(s):
    ABCB5 P-gp
    P-glycoprotein ABCB5
    Gene namesi
    Name:ABCB5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:46. ABCB5.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. integral component of plasma membrane Source: UniProtKB
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24387.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12571257ATP-binding cassette sub-family B member 5PRO_0000253575Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi17 – 171N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi85 – 851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi91 – 911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi371 – 3711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi390 – 3901N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi423 – 4231N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi789 – 7891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi819 – 8191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi910 – 9101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1104 – 11041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1188 – 11881N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ2M3G0.
    PRIDEiQ2M3G0.

    PTM databases

    PhosphoSiteiQ2M3G0.

    Expressioni

    Tissue specificityi

    Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Highly expressed in several malignant tissues: highly expressed in clinical melanomas, with low expression in normal skin. In melanoma, marks malignant melanoma-initiating cells (MMIC), in which clinical virulence resides as a consequence of unlimited self-renewal capacity, resulting in inexorable tumor progression and metastasis. Also highly expressed in a number of leukemia cells. Expressed in basal limbal epithelium.8 Publications

    Gene expression databases

    ArrayExpressiQ2M3G0.
    BgeeiQ2M3G0.
    CleanExiHS_ABCB5.
    GenevestigatoriQ2M3G0.

    Organism-specific databases

    HPAiHPA026975.

    Interactioni

    Protein-protein interaction databases

    IntActiQ2M3G0. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2M3G0.
    SMRiQ2M3G0. Positions 16-197, 203-811.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei49 – 6921HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei110 – 13021HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei181 – 20121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei203 – 22321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei294 – 31421HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei322 – 34221HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei693 – 71321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei737 – 75721HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei827 – 84721HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei917 – 93721HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei954 – 97421HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini49 – 350302ABC transmembrane type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini386 – 622237ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini693 – 980288ABC transmembrane type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1015 – 1253239ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG080809.
    InParanoidiQ2M3G0.
    KOiK05660.
    OMAiYCIGAAV.
    OrthoDBiEOG7Z3F4H.
    PhylomeDBiQ2M3G0.
    TreeFamiTF105193.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 2 hits.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 4 (identifier: Q2M3G0-4) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MENSERAEEM QENYQRNGTA EEQPKLRKEA VGSIEIFRFA DGLDITLMIL     50
    GILASLVNGA CLPLMPLVLG EMSDNLISGC LVQTNTTNYQ NCTQSQEKLN 100
    EDMTLLTLYY VGIGVAALIF GYIQISLWII TAARQTKRIR KQFFHSVLAQ 150
    DIGWFDSCDI GELNTRMTDD IDKISDGIGD KIALLFQNMS TFSIGLAVGL 200
    VKGWKLTLVT LSTSPLIMAS AAACSRMVIS LTSKELSAYS KAGAVAEEVL 250
    SSIRTVIAFR AQEKELQRYT QNLKDAKDFG IKRTIASKVS LGAVYFFMNG 300
    TYGLAFWYGT SLILNGEPGY TIGTVLAVFF SVIHSSYCIG AAVPHFETFA 350
    IARGAAFHIF QVIDKKPSID NFSTAGYKPE SIEGTVEFKN VSFNYPSRPS 400
    IKILKGLNLR IKSGETVALV GLNGSGKSTV VQLLQRLYDP DDGFIMVDEN 450
    DIRALNVRHY RDHIGVVSQE PVLFGTTISN NIKYGRDDVT DEEMERAARE 500
    ANAYDFIMEF PNKFNTLVGE KGAQMSGGQK QRIAIARALV RNPKILILDE 550
    ATSALDSESK SAVQAALEKA SKGRTTIVVA HRLSTIRSAD LIVTLKDGML 600
    AEKGAHAELM AKRGLYYSLV MSQDIKKADE QMESMTYSTE RKTNSLPLHS 650
    VKSIKSDFID KAEESTQSKE ISLPEVSLLK ILKLNKPEWP FVVLGTLASV 700
    LNGTVHPVFS IIFAKIITMF GNNDKTTLKH DAEIYSMIFV ILGVICFVSY 750
    FMQGLFYGRA GEILTMRLRH LAFKAMLYQD IAWFDEKENS TGGLTTILAI 800
    DIAQIQGATG SRIGVLTQNA TNMGLSVIIS FIYGWEMTFL ILSIAPVLAV 850
    TGMIETAAMT GFANKDKQEL KHAGKIATEA LENIRTIVSL TREKAFEQMY 900
    EEMLQTQHRN TSKKAQIIGS CYAFSHAFIY FAYAAGFRFG AYLIQAGRMT 950
    PEGMFIVFTA IAYGAMAIGE TLVLAPEYSK AKSGAAHLFA LLEKKPNIDS 1000
    RSQEGKKPDT CEGNLEFREV SFFYPCRPDV FILRGLSLSI ERGKTVAFVG 1050
    SSGCGKSTSV QLLQRLYDPV QGQVLFDGVD AKELNVQWLR SQIAIVPQEP 1100
    VLFNCSIAEN IAYGDNSRVV PLDEIKEAAN AANIHSFIEG LPEKYNTQVG 1150
    LKGAQLSGGQ KQRLAIARAL LQKPKILLLD EATSALDNDS EKVVQHALDK 1200
    ARTGRTCLVV THRLSAIQNA DLIVVLHNGK IKEQGTHQEL LRNRDIYFKL 1250
    VNAQSVQ 1257
    Length:1,257
    Mass (Da):138,641
    Last modified:October 1, 2014 - v4
    Checksum:iA4521B83E0D234CF
    GO
    Isoform 2 (identifier: Q2M3G0-2) [UniParc]FASTAAdd to Basket

    Also known as: ABCB5alpha

    The sequence of this isoform differs from the canonical sequence as follows:
         1-445: Missing.
         570-576: ASKGRTT → DTPRYSF
         577-1257: Missing.

    Show »
    Length:131
    Mass (Da):14,691
    Checksum:i4F8BD88320C5CABE
    GO
    Isoform 3 (identifier: Q2M3G0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-445: Missing.
         570-571: AS → KK
         572-1257: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:126
    Mass (Da):14,081
    Checksum:i37532E3C168CE6FA
    GO
    Isoform 1 (identifier: Q2M3G0-1) [UniParc]FASTAAdd to Basket

    Also known as: ABCB5beta

    The sequence of this isoform differs from the canonical sequence as follows:
         1-445: Missing.

    Show »
    Length:812
    Mass (Da):89,832
    Checksum:i588E5F90AE305BE5
    GO

    Sequence cautioni

    The sequence AAN76500.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAQ03033.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti577 – 5771I → M in AAN76500. (PubMed:12960149)Curated
    Sequence conflicti1141 – 11411L → P in AAW31630. (PubMed:15760339)Curated
    Sequence conflicti1186 – 11861L → I in ADV32637. (PubMed:21652540)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti560 – 5601K → E.1 Publication
    Corresponds to variant rs2301641 [ dbSNP | Ensembl ].
    VAR_028387
    Natural varianti669 – 6691K → R.
    Corresponds to variant rs13222448 [ dbSNP | Ensembl ].
    VAR_028388
    Natural varianti675 – 6751E → V in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035731
    Natural varianti880 – 8801A → T in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_062662
    Natural varianti905 – 9051Q → H.
    Corresponds to variant rs35885925 [ dbSNP | Ensembl ].
    VAR_033456
    Natural varianti915 – 9151A → T.
    Corresponds to variant rs17143304 [ dbSNP | Ensembl ].
    VAR_028389
    Natural varianti970 – 9701E → K.5 Publications
    Corresponds to variant rs6461515 [ dbSNP | Ensembl ].
    VAR_028390

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 445445Missing in isoform 1, isoform 2 and isoform 3. 4 PublicationsVSP_056752Add
    BLAST
    Alternative sequencei570 – 5767ASKGRTT → DTPRYSF in isoform 2. 1 PublicationVSP_056753
    Alternative sequencei570 – 5712AS → KK in isoform 3. 1 PublicationVSP_056754
    Alternative sequencei572 – 1257686Missing in isoform 3. 1 PublicationVSP_056755Add
    BLAST
    Alternative sequencei577 – 1257681Missing in isoform 2. 1 PublicationVSP_056756Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF319622 mRNA. Translation: AAN76500.1. Different initiation.
    AF399931 mRNA. Translation: AAQ03033.1. Different initiation.
    AY090613 mRNA. Translation: AAM09027.1.
    AY234788 mRNA. Translation: AAO73470.1.
    AY851364 mRNA. Translation: AAW31629.1.
    AY851365 mRNA. Translation: AAW31630.1.
    GU437216 mRNA. Translation: ADV32636.1.
    GU437217 mRNA. Translation: ADV32637.1.
    AB353947 mRNA. Translation: BAF75364.1.
    AY230001 mRNA. Translation: AAP55848.1.
    AC002486 Genomic DNA. No translation available.
    AC005060 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24273.1.
    CH471073 Genomic DNA. Translation: EAW93726.1.
    BC104894 mRNA. Translation: AAI04895.2.
    BC104920 mRNA. Translation: AAI04921.1.
    BC110370 mRNA. No translation available.
    CCDSiCCDS5371.1. [Q2M3G0-1]
    CCDS55090.1. [Q2M3G0-4]
    CCDS55091.1. [Q2M3G0-2]
    CCDS55092.1. [Q2M3G0-3]
    RefSeqiNP_001157413.1. NM_001163941.1. [Q2M3G0-4]
    NP_001157414.1. NM_001163942.1. [Q2M3G0-2]
    NP_001157465.1. NM_001163993.2. [Q2M3G0-3]
    NP_848654.3. NM_178559.5. [Q2M3G0-1]
    UniGeneiHs.404102.

    Genome annotation databases

    EnsembliENST00000258738; ENSP00000258738; ENSG00000004846. [Q2M3G0-1]
    ENST00000404938; ENSP00000384881; ENSG00000004846. [Q2M3G0-4]
    ENST00000406935; ENSP00000383899; ENSG00000004846. [Q2M3G0-3]
    ENST00000443026; ENSP00000406730; ENSG00000004846. [Q2M3G0-2]
    GeneIDi340273.
    KEGGihsa:340273.
    UCSCiuc003suv.4. human. [Q2M3G0-2]
    uc003suw.4. human. [Q2M3G0-1]

    Polymorphism databases

    DMDMi308153645.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF319622 mRNA. Translation: AAN76500.1 . Different initiation.
    AF399931 mRNA. Translation: AAQ03033.1 . Different initiation.
    AY090613 mRNA. Translation: AAM09027.1 .
    AY234788 mRNA. Translation: AAO73470.1 .
    AY851364 mRNA. Translation: AAW31629.1 .
    AY851365 mRNA. Translation: AAW31630.1 .
    GU437216 mRNA. Translation: ADV32636.1 .
    GU437217 mRNA. Translation: ADV32637.1 .
    AB353947 mRNA. Translation: BAF75364.1 .
    AY230001 mRNA. Translation: AAP55848.1 .
    AC002486 Genomic DNA. No translation available.
    AC005060 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24273.1 .
    CH471073 Genomic DNA. Translation: EAW93726.1 .
    BC104894 mRNA. Translation: AAI04895.2 .
    BC104920 mRNA. Translation: AAI04921.1 .
    BC110370 mRNA. No translation available.
    CCDSi CCDS5371.1. [Q2M3G0-1 ]
    CCDS55090.1. [Q2M3G0-4 ]
    CCDS55091.1. [Q2M3G0-2 ]
    CCDS55092.1. [Q2M3G0-3 ]
    RefSeqi NP_001157413.1. NM_001163941.1. [Q2M3G0-4 ]
    NP_001157414.1. NM_001163942.1. [Q2M3G0-2 ]
    NP_001157465.1. NM_001163993.2. [Q2M3G0-3 ]
    NP_848654.3. NM_178559.5. [Q2M3G0-1 ]
    UniGenei Hs.404102.

    3D structure databases

    ProteinModelPortali Q2M3G0.
    SMRi Q2M3G0. Positions 16-197, 203-811.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q2M3G0. 1 interaction.

    Chemistry

    ChEMBLi CHEMBL1772928.

    Protein family/group databases

    TCDBi 3.A.1.201.13. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q2M3G0.

    Polymorphism databases

    DMDMi 308153645.

    Proteomic databases

    PaxDbi Q2M3G0.
    PRIDEi Q2M3G0.

    Protocols and materials databases

    DNASUi 340273.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000258738 ; ENSP00000258738 ; ENSG00000004846 . [Q2M3G0-1 ]
    ENST00000404938 ; ENSP00000384881 ; ENSG00000004846 . [Q2M3G0-4 ]
    ENST00000406935 ; ENSP00000383899 ; ENSG00000004846 . [Q2M3G0-3 ]
    ENST00000443026 ; ENSP00000406730 ; ENSG00000004846 . [Q2M3G0-2 ]
    GeneIDi 340273.
    KEGGi hsa:340273.
    UCSCi uc003suv.4. human. [Q2M3G0-2 ]
    uc003suw.4. human. [Q2M3G0-1 ]

    Organism-specific databases

    CTDi 340273.
    GeneCardsi GC07P020653.
    H-InvDB HIX0025281.
    HGNCi HGNC:46. ABCB5.
    HPAi HPA026975.
    MIMi 611785. gene.
    neXtProti NX_Q2M3G0.
    PharmGKBi PA24387.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1132.
    HOVERGENi HBG080809.
    InParanoidi Q2M3G0.
    KOi K05660.
    OMAi YCIGAAV.
    OrthoDBi EOG7Z3F4H.
    PhylomeDBi Q2M3G0.
    TreeFami TF105193.

    Enzyme and pathway databases

    Reactomei REACT_15480. ABC-family proteins mediated transport.

    Miscellaneous databases

    GeneWikii ABCB5.
    GenomeRNAii 340273.
    NextBioi 35535241.
    PROi Q2M3G0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q2M3G0.
    Bgeei Q2M3G0.
    CleanExi HS_ABCB5.
    Genevestigatori Q2M3G0.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 2 hits.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 2 hits.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter."
      Frank N.Y., Pendse S.S., Lapchak P.H., Margaryan A., Shlain D., Doeing C., Sayegh M.H., Frank M.H.
      J. Biol. Chem. 278:47156-47165(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT LYS-970.
      Tissue: Melanocyte and Melanoma.
    2. "Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes."
      Chen K.G., Szakacs G., Annereau J.-P., Rouzaud F., Liang X.-J., Valencia J.C., Nagineni C.N., Hooks J.J., Hearing V.J., Gottesman M.M.
      Pigment Cell Res. 18:102-112(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANTS GLU-560 AND LYS-970, TISSUE SPECIFICITY.
      Tissue: Melanoma.
    3. "ABCB5 identifies a therapy-refractory tumor cell population in colorectal cancer patients."
      Wilson B.J., Schatton T., Zhan Q., Gasser M., Ma J., Saab K.R., Schanche R., Waaga-Gasser A.M., Gold J.S., Huang Q., Murphy G.F., Frank M.H., Frank N.Y.
      Cancer Res. 71:5307-5316(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Colon adenocarcinoma.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, VARIANT LYS-970.
      Tissue: Prostate and Testis.
    5. Meij I.C., van Aubel R., Tammur J., Dean M., Russel F.G., Allikmets R., Cremers F.P.M.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT LYS-970.
    6. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LYS-970.
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
      Tissue: Melanoma.
    10. "Membrane transporters and channels: role of the transportome in cancer chemosensitivity and chemoresistance."
      Huang Y., Anderle P., Bussey K.J., Barbacioru C., Shankavaram U., Dai Z., Reinhold W.C., Papp A., Weinstein J.N., Sadee W.
      Cancer Res. 64:4294-4301(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma."
      Frank N.Y., Margaryan A., Huang Y., Schatton T., Waaga-Gasser A.M., Gasser M., Sayegh M.H., Sadee W., Frank M.H.
      Cancer Res. 65:4320-4333(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. "ABCB5 expression and cancer stem cell hypothesis in oral squamous cell carcinoma."
      Grimm M., Krimmel M., Polligkeit J., Alexander D., Munz A., Kluba S., Keutel C., Hoffmann J., Reinert S., Hoefert S.
      Eur. J. Cancer 48:3186-3197(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    13. "Expression of ABCB5 gene in hematological malignances and its significance."
      Yang M., Li W., Fan D., Yan Y., Zhang X., Zhang Y., Xiong D.
      Leuk. Lymphoma 53:1211-1215(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    14. Cited for: TISSUE SPECIFICITY.
    15. "Genetically determined ABCB5 functionality correlates with pigmentation phenotype and melanoma risk."
      Lin J.Y., Zhang M., Schatton T., Wilson B.J., Alloo A., Ma J., Qureshi A.A., Frank N.Y., Han J., Frank M.H.
      Biochem. Biophys. Res. Commun. 436:536-542(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    16. "ABCB5 maintains melanoma-initiating cells through a pro-inflammatory cytokine signaling circuit."
      Wilson B.J., Saab K.R., Ma J., Schatton T., Putz P., Zhan Q., Murphy G.F., Gasser M., Waaga-Gasser A.M., Frank N.Y., Frank M.H.
      Cancer Res. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    17. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-675.
    18. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-880.
    19. Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiABCB5_HUMAN
    AccessioniPrimary (citable) accession number: Q2M3G0
    Secondary accession number(s): A4D131
    , A7BKA4, B5MD19, B7WPL1, F8QQP8, F8QQP9, J3KQ04, Q2M3I5, Q5I5Q7, Q5I5Q8, Q6KG50, Q6XFQ5, Q8IXA1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: October 1, 2014
    Last modified: October 1, 2014
    This is version 89 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Acts as a marker of stem-like cells (CSC) in a number of malignancies (PubMed:24934811). Associated with clinical drug resistance, tumor progression and disease recurrence in malignant melanoma and acute leukemias. Responsible for the resistance to doxorubicin of a subset of malignant melanomas. ABCB5-expressing cells selectively survive when exposed to dacarbazine drug, the reference treatment of metastatic melanoma, vemurafenib and other various chemotherapeutic drugs, suggesting that anti-melanoma chemotherapy participates to the chemoresistance acquisition by selecting tumor cell subpopulations expressing ABCB5 (PubMed:22784549, PubMed:22044138, PubMed:22675422, PubMed:23770371, PubMed:24934811). Present in melanoma-initiating cells that acts as an enhancer of tumor growth by promoting CSC maintenance and tumor growth by controlling IL-1beta (IL1B) secretion to maintain slow-cycling, chemoresistant cells through an IL-1beta (IL1B)/IL8/CXCR1 cytokine signaling circuit (PubMed:24934811).5 Publications

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3