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Reviewed, UniProtKB/Swiss-Prot Q2M3G0 (ABCB5_HUMAN)

Last modified November 25, 2008. Version 31. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    ATP-binding cassette sub-family B member 5
Alternative name(s):
    P-glycoprotein ABCB5
    ABCB5 P-gp
Gene names
Name: ABCB5
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length812 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Responsible for the resistance to doxorubicin of a subset of malignant melanomas.

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level). Widely expressed with specific expression in pigment cells. Also expressed in several malignant tissues.

Miscellaneous

Depletion of ABCB5 by RNAi increases the sensitivity to several drugs of a subset of melanoma cells.

Sequence similarities

Belongs to the ABC transporter family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. [View classification]

Contains 1 ABC transmembrane type-1 domain.

Contains 2 ABC transporter domains.

Caution

Was named ABCB1 by some authors.

Ontologies

Keywords

   Biological processTransport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
   LigandATP-binding
Nucleotide-binding

Gene Ontology (GO)

   Biological processtransport

Inferred from electronic annotation. Source: InterPro

   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: InterPro

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionATP binding

Inferred from electronic annotation. Source: InterPro

ATPase activity, coupled to transmembrane movement of substances

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q2M3G0-1)

Also known as: ABCB5beta;

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.
Isoform 2 (identifier: Q2M3G0-2)

Also known as: ABCB5alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     125-131: ASKGRTT → DTPRYSF
     132-812: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 812812ATP-binding cassette sub-family B member 5
PRO_0000253575

Regions

Topological domain1 – 247247Extracellular Potential
Transmembrane248 – 26821 Potential
Topological domain269 – 29123Cytoplasmic Potential
Transmembrane292 – 31221 Potential
Topological domain313 – 38169Extracellular Potential
Transmembrane382 – 40221 Potential
Topological domain403 – 47169Cytoplasmic Potential
Transmembrane472 – 49221 Potential
Topological domain493 – 50816Extracellular Potential
Transmembrane509 – 52921 Potential
Topological domain530 – 812283Cytoplasmic Potential
Domain2 – 177176ABC transporter 1
Domain247 – 535289ABC transmembrane type-1
Domain570 – 808239ABC transporter 2
Nucleotide binding605 – 6128ATP Potential

Natural variations

Alternative sequence125 – 1317ASKGRTT → DTPRYSF in isoform 2.
VSP_021075
Alternative sequence132 – 812681Missing in isoform 2.
VSP_021076
Natural variant1151K → E: dbSNP rs2301641.
VAR_028387
Natural variant2241K → R: dbSNP rs13222448.
VAR_028388
Natural variant2301E → V in a colorectal cancer sample; somatic mutation.
VAR_035731
Natural variant4601Q → H: dbSNP rs35885925.
VAR_033456
Natural variant4701A → T: dbSNP rs17143304.
VAR_028389
Natural variant5251K → E: dbSNP rs6461515.
VAR_028390

Experimental info

Sequence conflict1321I → M in AAN76500. Ref.1
Sequence conflict6961L → P in AAW31630. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ABCB5beta) [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 8A047535610CADE6

FASTA81289,831
        10         20         30         40         50         60 
MVDENDIRAL NVRHYRDHIG VVSQEPVLFG TTISNNIKYG RDDVTDEEME RAAREANAYD 

        70         80         90        100        110        120 
FIMEFPNKFN TLVGEKGAQM SGGQKQRIAI ARALVRNPKI LILDEATSAL DSESKSAVQA 

       130        140        150        160        170        180 
ALEKASKGRT TIVVAHRLST IRSADLIVTL KDGMLAEKGA HAELMAKRGL YYSLVMSQDI 

       190        200        210        220        230        240 
KKADEQMESM TYSTERKTNS LPLHSVKSIK SDFIDKAEES TQSKEISLPE VSLLKILKLN 

       250        260        270        280        290        300 
KPEWPFVVLG TLASVLNGTV HPVFSIIFAK IITMFGNNDK TTLKHDAEIY SMIFVILGVI 

       310        320        330        340        350        360 
CFVSYFMQGL FYGRAGEILT MRLRHLAFKA MLYQDIAWFD EKENSTGGLT TILAIDIAQI 

       370        380        390        400        410        420 
QGATGSRIGV LTQNATNMGL SVIISFIYGW EMTFLILSIA PVLAVTGMIE TAAMTGFANK 

       430        440        450        460        470        480 
DKQELKHAGK IATEALENIR TIVSLTREKA FEQMYEEMLQ TQHRNTSKKA QIIGSCYAFS 

       490        500        510        520        530        540 
HAFIYFAYAA GFRFGAYLIQ AGRMTPEGMF IVFTAIAYGA MAIGKTLVLA PEYSKAKSGA 

       550        560        570        580        590        600 
AHLFALLEKK PNIDSRSQEG KKPDTCEGNL EFREVSFFYP CRPDVFILRG LSLSIERGKT 

       610        620        630        640        650        660 
VAFVGSSGCG KSTSVQLLQR LYDPVQGQVL FDGVDAKELN VQWLRSQIAI VPQEPVLFNC 

       670        680        690        700        710        720 
SIAENIAYGD NSRVVPLDEI KEAANAANIH SFIEGLPEKY NTQVGLKGAQ LSGGQKQRLA 

       730        740        750        760        770        780 
IARALLQKPK ILLLDEATSA LDNDSEKVVQ HALDKARTGR TCLVVTHRLS AIQNADLIVV 

       790        800        810 
LHNGKIKEQG THQELLRNRD IYFKLVNAQS VQ 

« Hide

Isoform 2 (ABCB5alpha) [UniParc].

Checksum: 4F8BD88320C5CABE
Show »

13114,691

References

« Hide 'large scale' references
[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: 12960149] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, TISSUE SPECIFICITY.
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: 15760339] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT GLU-115, TISSUE SPECIFICITY.
Tissue: Melanoma.
[3]"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. expand/collapse author list , 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: 12690205] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-525.
[5]"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: 15205344] [Abstract]
Cited for: FUNCTION.
[6]"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: 15899824] [Abstract]
Cited for: FUNCTION.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-230.
+Additional computationally mapped references.

Cross-references

Sequence databases

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.
CH236948 Genomic DNA. Translation: EAL24273.1.
BC104894 mRNA. Translation: AAI04895.2.
BC104920 mRNA. Translation: AAI04921.1.
RefSeqNP_848654.3.
UniGeneHs.658821

3D structure databases

HSSPHSSP built from PDB template 1MT0 based on UniProtKB P08716.
ModBaseSearch...

Protein-protein interaction databases

IntActQ2M3G0.

PTM databases

PhosphoSiteQ2M3G0.

Genome annotation databases

EnsemblENSG00000004846. Homo sapiens. [Contig view]
GeneID340273.
KEGGhsa:340273.

Organism-specific databases

HGNCHGNC:46. ABCB5.
PharmGKBPA24387.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENQ2M3G0.

Gene expression databases

ArrayExpressQ2M3G0.
CleanExHS_ABCB5.
GermOnlineENSG00000004846. Homo sapiens.

Family and domain databases

InterProIPR003593. AAA+_ATPase_core.
IPR011527. ABC_TM_1.
IPR001140. ABC_TM_transpt.
IPR003439. ABC_transporter-like.
[Graphical view]
PfamPF00664. ABC_membrane. 1 hit.
PF00005. ABC_tran. 2 hits.
[Graphical view]
ProDomPD000006. ABC_transporter. 2 hits.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
PROSITEPS50929. ABC_TM1F. 1 hit.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio97792.

Entry information

Entry nameABCB5_HUMAN
AccessionPrimary (citable) accession number: Q2M3G0
Secondary accession number(s): A4D131 expand/collapse secondary AC list , Q2M3I5, Q5I5Q7, Q5I5Q8, Q6KG50, Q6XFQ5, Q8IXA1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 25, 2008
This is version 31 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents