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Protein

ATP-binding cassette sub-family B member 5

Gene

ABCB5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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 in 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

Caution

Was named ABCB1 by some authors.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi421 – 428ATPPROSITE-ProRule annotation8
Nucleotide bindingi1050 – 1057ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • compound eye corneal lens development Source: UniProtKB
  • regulation of membrane potential Source: UniProtKB
  • transmembrane transport Source: UniProtKB

Keywordsi

Biological processDifferentiation, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-382556 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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000004846.16
HGNCiHGNC:46 ABCB5
MIMi611785 gene
neXtProtiNX_Q2M3G0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei49 – 69HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei110 – 130HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei181 – 201HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei203 – 223HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei294 – 314HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei322 – 342HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei693 – 713HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei737 – 757HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei827 – 847HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei917 – 937HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei954 – 974HelicalPROSITE-ProRule annotationAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi340273
OpenTargetsiENSG00000004846
PharmGKBiPA24387

Chemistry databases

ChEMBLiCHEMBL1772928
DrugBankiDB04851 Biricodar dicitrate

Polymorphism and mutation databases

BioMutaiABCB5
DMDMi308153645

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002535751 – 1257ATP-binding cassette sub-family B member 5Add BLAST1257

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi17N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi91N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi371N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi390N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi423N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi789N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi819N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi910N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1188N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ2M3G0
PaxDbiQ2M3G0
PeptideAtlasiQ2M3G0
PRIDEiQ2M3G0
ProteomicsDBi61374
61375 [Q2M3G0-2]

PTM databases

iPTMnetiQ2M3G0
PhosphoSitePlusiQ2M3G0

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

BgeeiENSG00000004846
CleanExiHS_ABCB5
ExpressionAtlasiQ2M3G0 baseline and differential
GenevisibleiQ2M3G0 HS

Interactioni

Protein-protein interaction databases

BioGridi131028, 3 interactors
IntActiQ2M3G0, 1 interactor
STRINGi9606.ENSP00000384881

Structurei

3D structure databases

ProteinModelPortaliQ2M3G0
SMRiQ2M3G0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 350ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST302
Domaini386 – 622ABC transporter 1PROSITE-ProRule annotationAdd BLAST237
Domaini693 – 980ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST288
Domaini1015 – 1253ABC transporter 2PROSITE-ProRule annotationAdd BLAST239

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0055 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00530000062896
HOVERGENiHBG080809
InParanoidiQ2M3G0
KOiK05660
OMAiYYSLVMQ
OrthoDBiEOG091G0HVA
PhylomeDBiQ2M3G0
TreeFamiTF105193

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti577I → M in AAN76500 (PubMed:12960149).Curated1
Sequence conflicti1141L → P in AAW31630 (PubMed:15760339).Curated1
Sequence conflicti1186L → I in ADV32637 (PubMed:21652540).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028387560K → E1 PublicationCorresponds to variant dbSNP:rs2301641Ensembl.1
Natural variantiVAR_028388669K → R. Corresponds to variant dbSNP:rs13222448Ensembl.1
Natural variantiVAR_035731675E → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_062662880A → T in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_033456905Q → H. Corresponds to variant dbSNP:rs35885925Ensembl.1
Natural variantiVAR_028389915A → T. Corresponds to variant dbSNP:rs17143304Ensembl.1
Natural variantiVAR_028390970E → K5 PublicationsCorresponds to variant dbSNP:rs6461515Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0567521 – 445Missing in isoform 1, isoform 2 and isoform 3. 4 PublicationsAdd BLAST445
Alternative sequenceiVSP_056753570 – 576ASKGRTT → DTPRYSF in isoform 2. 1 Publication7
Alternative sequenceiVSP_056754570 – 571AS → KK in isoform 3. 1 Publication2
Alternative sequenceiVSP_056755572 – 1257Missing in isoform 3. 1 PublicationAdd BLAST686
Alternative sequenceiVSP_056756577 – 1257Missing in isoform 2. 1 PublicationAdd BLAST681

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011513669.1, XM_011515367.2 [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 [Q2M3G0-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 1, 2014
Last modified: June 20, 2018
This is version 119 of the entry and version 4 of the sequence. See 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

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

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