Reviewed, UniProtKB/Swiss-Prot Q2M3G0 (ABCB5_HUMAN)

Names and origin

Protein names

Recommended name:
    ATP-binding cassette sub-family B member 5
Alternative name(s):
    P-glycoprotein ABCB5
    ABCB5 P-gp

Gene names

Name:

ABCB5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	812 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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 process	Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane
Ligand	ATP-binding Nucleotide-binding
Gene Ontology (GO)
Biological process	transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: InterPro plasma membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 812	812	ATP-binding cassette sub-family B member 5		PRO_0000253575
Regions
	Topological domain	1 – 247	247	Extracellular Potential
	Transmembrane	248 – 268	21	Potential
	Topological domain	269 – 291	23	Cytoplasmic Potential
	Transmembrane	292 – 312	21	Potential
	Topological domain	313 – 381	69	Extracellular Potential
	Transmembrane	382 – 402	21	Potential
	Topological domain	403 – 471	69	Cytoplasmic Potential
	Transmembrane	472 – 492	21	Potential
	Topological domain	493 – 508	16	Extracellular Potential
	Transmembrane	509 – 529	21	Potential
	Topological domain	530 – 812	283	Cytoplasmic Potential
	Domain	2 – 177	176	ABC transporter 1
	Domain	247 – 535	289	ABC transmembrane type-1
	Domain	570 – 808	239	ABC transporter 2
	Nucleotide binding	605 – 612	8	ATP Potential
Natural variations
	Alternative sequence	125 – 131	7	ASKGRTT → DTPRYSF in isoform 2.		VSP_021075
	Alternative sequence	132 – 812	681	Missing in isoform 2.		VSP_021076
	Natural variant	115	1	K → E: dbSNP rs2301641.		VAR_028387
	Natural variant	224	1	K → R: dbSNP rs13222448.		VAR_028388
	Natural variant	230	1	E → V in a colorectal cancer sample; somatic mutation.		VAR_035731
	Natural variant	460	1	Q → H: dbSNP rs35885925.		VAR_033456
	Natural variant	470	1	A → T: dbSNP rs17143304.		VAR_028389
	Natural variant	525	1	K → E: dbSNP rs6461515.		VAR_028390
Experimental info
	Sequence conflict	132	1	I → M in AAN76500. Ref.1
	Sequence conflict	696	1	L → P in AAW31630. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (ABCB5beta) [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 8A047535610CADE6	FASTA	812	89,831
	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
	Isoform 2 (ABCB5alpha) [UniParc]. Checksum: 4F8BD88320C5CABE		131	14,691
	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 ALEKDTPRYS F

References

	« Hide 'large scale' referencesShow '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. , 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. , 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
EMBLGenBankDDBJ	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.
RefSeq	NP_848654.3.
UniGene	Hs.658821
3D structure databases
HSSP	HSSP built from PDB template 1MT0 based on UniProtKB P08716.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q2M3G0.
PTM databases
PhosphoSite	Q2M3G0.
Genome annotation databases
Ensembl	ENSG00000004846. Homo sapiens. [Contig view]
GeneID	340273.
KEGG	hsa:340273.
Organism-specific databases
HGNC	HGNC:46. ABCB5.
PharmGKB	PA24387.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q2M3G0.
Gene expression databases
ArrayExpress	Q2M3G0.
CleanEx	HS_ABCB5.
GermOnline	ENSG00000004846. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase_core. IPR011527. ABC_TM_1. IPR001140. ABC_TM_transpt. IPR003439. ABC_transporter-like. [Graphical view]
Pfam	PF00664. ABC_membrane. 1 hit. PF00005. ABC_tran. 2 hits. [Graphical view]
ProDom	PD000006. ABC_transporter. 2 hits. [Graphical view] [Entries sharing at least one domain]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 2 hits. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	97792.

Entry information

Entry name

ABCB5_HUMAN

Accession

Primary (citable) accession number: Q2M3G0
Secondary accession number(s): A4D131 , 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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)