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Q2M3G0

- ABCB5_HUMAN

UniProt

Q2M3G0 - ABCB5_HUMAN

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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

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. cell differentiation Source: UniProtKB-KW
  5. compound eye corneal lens development Source: UniProtKB
  6. positive regulation of antigen processing and presentation of peptide antigen via MHC class I Source: RefGenome
  7. regulation of membrane potential Source: UniProtKB
  8. transmembrane transport Source: UniProtKB
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ2M3G0.
CleanExiHS_ABCB5.
ExpressionAtlasiQ2M3G0. baseline and differential.
GenevestigatoriQ2M3G0.

Organism-specific databases

HPAiHPA026975.

Interactioni

Protein-protein interaction databases

IntActiQ2M3G0. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ2M3G0.
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.
GeneTreeiENSGT00530000062896.
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

        10         20         30         40         50
MENSERAEEM QENYQRNGTA EEQPKLRKEA VGSIEIFRFA DGLDITLMIL
60 70 80 90 100
GILASLVNGA CLPLMPLVLG EMSDNLISGC LVQTNTTNYQ NCTQSQEKLN
110 120 130 140 150
EDMTLLTLYY VGIGVAALIF GYIQISLWII TAARQTKRIR KQFFHSVLAQ
160 170 180 190 200
DIGWFDSCDI GELNTRMTDD IDKISDGIGD KIALLFQNMS TFSIGLAVGL
210 220 230 240 250
VKGWKLTLVT LSTSPLIMAS AAACSRMVIS LTSKELSAYS KAGAVAEEVL
260 270 280 290 300
SSIRTVIAFR AQEKELQRYT QNLKDAKDFG IKRTIASKVS LGAVYFFMNG
310 320 330 340 350
TYGLAFWYGT SLILNGEPGY TIGTVLAVFF SVIHSSYCIG AAVPHFETFA
360 370 380 390 400
IARGAAFHIF QVIDKKPSID NFSTAGYKPE SIEGTVEFKN VSFNYPSRPS
410 420 430 440 450
IKILKGLNLR IKSGETVALV GLNGSGKSTV VQLLQRLYDP DDGFIMVDEN
460 470 480 490 500
DIRALNVRHY RDHIGVVSQE PVLFGTTISN NIKYGRDDVT DEEMERAARE
510 520 530 540 550
ANAYDFIMEF PNKFNTLVGE KGAQMSGGQK QRIAIARALV RNPKILILDE
560 570 580 590 600
ATSALDSESK SAVQAALEKA SKGRTTIVVA HRLSTIRSAD LIVTLKDGML
610 620 630 640 650
AEKGAHAELM AKRGLYYSLV MSQDIKKADE QMESMTYSTE RKTNSLPLHS
660 670 680 690 700
VKSIKSDFID KAEESTQSKE ISLPEVSLLK ILKLNKPEWP FVVLGTLASV
710 720 730 740 750
LNGTVHPVFS IIFAKIITMF GNNDKTTLKH DAEIYSMIFV ILGVICFVSY
760 770 780 790 800
FMQGLFYGRA GEILTMRLRH LAFKAMLYQD IAWFDEKENS TGGLTTILAI
810 820 830 840 850
DIAQIQGATG SRIGVLTQNA TNMGLSVIIS FIYGWEMTFL ILSIAPVLAV
860 870 880 890 900
TGMIETAAMT GFANKDKQEL KHAGKIATEA LENIRTIVSL TREKAFEQMY
910 920 930 940 950
EEMLQTQHRN TSKKAQIIGS CYAFSHAFIY FAYAAGFRFG AYLIQAGRMT
960 970 980 990 1000
PEGMFIVFTA IAYGAMAIGE TLVLAPEYSK AKSGAAHLFA LLEKKPNIDS
1010 1020 1030 1040 1050
RSQEGKKPDT CEGNLEFREV SFFYPCRPDV FILRGLSLSI ERGKTVAFVG
1060 1070 1080 1090 1100
SSGCGKSTSV QLLQRLYDPV QGQVLFDGVD AKELNVQWLR SQIAIVPQEP
1110 1120 1130 1140 1150
VLFNCSIAEN IAYGDNSRVV PLDEIKEAAN AANIHSFIEG LPEKYNTQVG
1160 1170 1180 1190 1200
LKGAQLSGGQ KQRLAIARAL LQKPKILLLD EATSALDNDS EKVVQHALDK
1210 1220 1230 1240 1250
ARTGRTCLVV THRLSAIQNA DLIVVLHNGK IKEQGTHQEL LRNRDIYFKL

VNAQSVQ
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. [Q2M3G0-4]
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. [Q2M3G0-4]

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. [Q2M3G0-4 ]
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.
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. [Q2M3G0-4 ]

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.
GeneTreei ENSGT00530000062896.
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 35510631.
PROi Q2M3G0.
SOURCEi Search...

Gene expression databases

Bgeei Q2M3G0.
CleanExi HS_ABCB5.
ExpressionAtlasi Q2M3G0. baseline and differential.
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

« Hide 'large scale' publications
  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. 74:4196-4207(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 29, 2014
This is version 90 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

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