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Q9UNQ0 (ABCG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family G member 2
Alternative name(s):
Breast cancer resistance protein
CDw338
Mitoxantrone resistance-associated protein
Placenta-specific ATP-binding cassette transporter
Urate exporter
CD_antigen=CD338
Gene names
Name:ABCG2
Synonyms:ABCP, BCRP, BCRP1, MXR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length655 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT), and the anthracyclines daunorubicin and doxorubicin. Ref.7 Ref.24 Ref.25 Ref.29

Subunit structure

Monomer under reducing conditions, the minimal functional units is a homodimer; disulfide-linked, but the major oligomeric form in plasma membranes is a homotetramer with possibility of higher order oligomerization up to homododecamers. Ref.16 Ref.19 Ref.20

Subcellular location

Cell membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein Ref.16 Ref.17 Ref.19 Ref.29.

Tissue specificity

Highly expressed in placenta. Low expression in small intestine, liver and colon. Ref.1 Ref.2

Induction

Up-regulated in brain tumors.

Domain

The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin. Ref.24

Post-translational modification

Glycosylation-deficient ABCG2 is normally expressed and functional.

Polymorphism

Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait.

Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia.

Miscellaneous

When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin.

Sequence similarities

Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. [View classification]

Contains 1 ABC transmembrane type-2 domain.

Contains 1 ABC transporter domain.

Sequence caution

The sequence AF093771 differs from that shown. Reason: Frameshift at positions 486 and 586.

The sequence AF093772 differs from that shown. Reason: Frameshift at positions 386, 502 and 586.

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
Membrane
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular iron ion homeostasis

Traceable author statement. Source: Reactome

drug transmembrane transport

Traceable author statement. Source: Reactome

heme transport

Traceable author statement. Source: GOC

response to drug

Traceable author statement Ref.2. Source: ProtInc

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement Ref.1. Source: ProtInc

urate metabolic process

Inferred from mutant phenotype Ref.21PubMed 20053405. Source: UniProtKB

xenobiotic transport

Traceable author statement Ref.2. Source: GOC

   Cellular_componentintegral component of membrane

Traceable author statement Ref.1. Source: ProtInc

mitochondrial membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionATP binding

Traceable author statement Ref.1. Source: ProtInc

ATPase activity, coupled to transmembrane movement of substances

Traceable author statement Ref.1. Source: ProtInc

heme transporter activity

Traceable author statement. Source: Reactome

protein homodimerization activity

Inferred from direct assay PubMed 16870176. Source: BHF-UCL

transporter activity

Traceable author statement Ref.1Ref.2. Source: ProtInc

xenobiotic-transporting ATPase activity

Traceable author statement Ref.2. Source: ProtInc

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UNQ0-1)

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: Q9UNQ0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     550-611: IFSGLLVNLT...PCNYATCTGE → VCWSISQPLH...MQHVLAKNIW
     612-655: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 655655ATP-binding cassette sub-family G member 2
PRO_0000093386

Regions

Topological domain1 – 395395Cytoplasmic Potential
Transmembrane396 – 41621Helical; Potential
Topological domain417 – 42812Extracellular Potential
Transmembrane429 – 44921Helical; Potential
Topological domain450 – 47728Cytoplasmic Potential
Transmembrane478 – 49821Helical; Potential
Topological domain499 – 5068Extracellular Potential
Transmembrane507 – 52721Helical; Potential
Topological domain528 – 5358Cytoplasmic Potential
Transmembrane536 – 55621Helical; Potential
Topological domain557 – 63074Extracellular Potential
Transmembrane631 – 65121Helical; Potential
Topological domain652 – 6554Cytoplasmic Potential
Domain37 – 286250ABC transporter
Domain389 – 651263ABC transmembrane type-2
Nucleotide binding80 – 878ATP Potential

Sites

Site4181Not glycosylated
Site5571Not glycosylated

Amino acid modifications

Glycosylation5961N-linked (GlcNAc...) Ref.17
Disulfide bond592 ↔ 608 Ref.20
Disulfide bond603Interchain Ref.20

Natural variations

Alternative sequence550 – 61162IFSGL…TCTGE → VCWSISQPLHLGCHGFSTSA FHDMDLRLCSIMNFWDKTSA QDSMQQETILVTMQHVLAKN IW in isoform 2.
VSP_014232
Alternative sequence612 – 65544Missing in isoform 2.
VSP_014233
Natural variant121V → M Found in Jr(a-) blood group phenotype. Ref.11 Ref.27 Ref.30 Ref.32 Ref.33 Ref.34
Corresponds to variant rs2231137 [ dbSNP | Ensembl ].
VAR_020779
Natural variant131S → L. Ref.34
VAR_067363
Natural variant1411Q → K Polymorphism associated with high serum levels of uric acid and increased risk of gout; results in lower urate transport rates compared to wild-type. Ref.8 Ref.11 Ref.13 Ref.22 Ref.23 Ref.30 Ref.32 Ref.33 Ref.34
Corresponds to variant rs2231142 [ dbSNP | Ensembl ].
VAR_020780
Natural variant1601R → Q. Ref.34
VAR_067364
Natural variant1661Q → E. Ref.1 Ref.7
Corresponds to variant rs1061017 [ dbSNP | Ensembl ].
VAR_022704
Natural variant2061I → L. Ref.32
VAR_022705
Natural variant2081F → S. Ref.1 Ref.7
Corresponds to variant rs1061018 [ dbSNP | Ensembl ].
VAR_022706
Natural variant2481S → P.
Corresponds to variant rs3116448 [ dbSNP | Ensembl ].
VAR_022707
Natural variant2961D → H. Ref.11
Corresponds to variant rs41282401 [ dbSNP | Ensembl ].
VAR_030357
Natural variant3161T → P. Ref.9
VAR_022443
Natural variant3541G → R. Ref.34
Corresponds to variant rs138606116 [ dbSNP | Ensembl ].
VAR_067365
Natural variant4311F → L. Ref.31 Ref.34
VAR_018349
Natural variant4411S → N. Ref.34
VAR_067366
Natural variant4891F → L. Ref.31 Ref.34
Corresponds to variant rs192169063 [ dbSNP | Ensembl ].
VAR_018350
Natural variant5281A → T. Ref.11
Corresponds to variant rs45605536 [ dbSNP | Ensembl ].
VAR_030358
Natural variant5711F → I.
Corresponds to variant rs9282571 [ dbSNP | Ensembl ].
VAR_022708
Natural variant5901N → Y. Ref.32
Corresponds to variant rs34264773 [ dbSNP | Ensembl ].
VAR_035355
Natural variant6201D → N. Ref.33
Corresponds to variant rs34783571 [ dbSNP | Ensembl ].
VAR_022709

Experimental info

Mutagenesis861K → M: Inactive and altered subcellular location. Ref.19
Mutagenesis4181N → Q: No effect. Ref.17
Mutagenesis4821R → D: Decreases ATPase activity. Ref.18
Mutagenesis4821R → G, N, S or T: Increases ATPase activity. Ref.18
Mutagenesis4821R → K, I, M or Y: No change in ATPase activity. Ref.18
Mutagenesis4821R → T or Y: Decreases transport activity. Ref.18
Mutagenesis5571N → Q: No effect. Ref.17
Mutagenesis5831H → A: Strongly reduced binding to hemin but not to PPIX. Ref.24
Mutagenesis5961N → Q: Loss of glycosylation. Ref.17
Mutagenesis6031C → A: Strongly reduced binding to hemin but not to PPIX. Ref.24
Mutagenesis6051Y → A: No effect on hemin binding. Ref.24
Sequence conflict241A → V in AAD09188. Ref.1
Sequence conflict241A → V in AAP44087. Ref.7
Sequence conflict315 – 3162Missing in BAA92050. Ref.10
Sequence conflict3901G → V in AAH92408. Ref.13
Sequence conflict4821R → G in AF093771. Ref.14
Sequence conflict4821R → G in AF093772. Ref.14
Sequence conflict4821R → T in AAC97367. Ref.2
Sequence conflict484 – 4852LP → FT in AF093772. Ref.14
Sequence conflict5011P → A in AAG52982. Ref.6

Sequences

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

Last modified May 10, 2005. Version 3.
Checksum: A8AF66B96034C5A8

FASTA65572,314
        10         20         30         40         50         60 
MSSSNVEVFI PVSQGNTNGF PATASNDLKA FTEGAVLSFH NICYRVKLKS GFLPCRKPVE 

        70         80         90        100        110        120 
KEILSNINGI MKPGLNAILG PTGGGKSSLL DVLAARKDPS GLSGDVLING APRPANFKCN 

       130        140        150        160        170        180 
SGYVVQDDVV MGTLTVRENL QFSAALRLAT TMTNHEKNER INRVIQELGL DKVADSKVGT 

       190        200        210        220        230        240 
QFIRGVSGGE RKRTSIGMEL ITDPSILFLD EPTTGLDSST ANAVLLLLKR MSKQGRTIIF 

       250        260        270        280        290        300 
SIHQPRYSIF KLFDSLTLLA SGRLMFHGPA QEALGYFESA GYHCEAYNNP ADFFLDIING 

       310        320        330        340        350        360 
DSTAVALNRE EDFKATEIIE PSKQDKPLIE KLAEIYVNSS FYKETKAELH QLSGGEKKKK 

       370        380        390        400        410        420 
ITVFKEISYT TSFCHQLRWV SKRSFKNLLG NPQASIAQII VTVVLGLVIG AIYFGLKNDS 

       430        440        450        460        470        480 
TGIQNRAGVL FFLTTNQCFS SVSAVELFVV EKKLFIHEYI SGYYRVSSYF LGKLLSDLLP 

       490        500        510        520        530        540 
MRMLPSIIFT CIVYFMLGLK PKADAFFVMM FTLMMVAYSA SSMALAIAAG QSVVSVATLL 

       550        560        570        580        590        600 
MTICFVFMMI FSGLLVNLTT IASWLSWLQY FSIPRYGFTA LQHNEFLGQN FCPGLNATGN 

       610        620        630        640        650 
NPCNYATCTG EEYLVKQGID LSPWGLWKNH VALACMIVIF LTIAYLKLLF LKKYS 

« Hide

Isoform 2 [UniParc].

Checksum: 9F831226192A2D39
Show »

FASTA61167,453

References

« Hide 'large scale' references
[1]"A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance."
Allikmets R., Schriml L.M., Hutchinson A., Romano-Spica V., Dean M.
Cancer Res. 58:5337-5339(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLU-166 AND SER-208, TISSUE SPECIFICITY.
Tissue: Placenta.
[2]"A multidrug resistance transporter from human MCF-7 breast cancer cells."
Doyle L.A., Yang W., Abruzzo L.V., Krogmann T., Gao Y., Rishi A.K., Ross D.D.
Proc. Natl. Acad. Sci. U.S.A. 95:15665-15670(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Mammary cancer.
[3]Erratum
Doyle L.A., Yang W., Abruzzo L.V., Krogmann T., Gao Y., Rishi A.K., Ross D.D.
Proc. Natl. Acad. Sci. U.S.A. 96:2569-2569(1999)
[4]"Breast cancer resistance protein constitutes a 140-kDa complex as a homodimer."
Kage K., Tsukahara S., Sugiyama T., Asada S., Ishikawa E., Tsuruo T., Sugimoto Y.
Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"Identification of breast cancer resistant protein/mitoxantrone resistance/placenta-specific, ATP-binding cassette transporter as a transporter of NB-506 and J-107088, topoisomerase I inhibitors with an indolocarbazole structure."
Komatani H., Kotani H., Hara Y., Nakagawa R., Matsumoto M., Arakawa H., Nishimura S.
Cancer Res. 61:2827-2832(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[6]"The ABC transporter Bcrp1/ABCG2 is expressed in a wide variety of stem cells and is a molecular determinant of the side-population phenotype."
Zhou S., Schuetz J.D., Bunting K.D., Colapietro A.M., Sampath J., Morris J.J., Lagutina I., Grosveld G.C., Osawa M., Nakauchi H., Sorrentino B.P.
Nat. Med. 7:1028-1034(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[7]"The expression and functional characterization of ABCG2 in brain endothelial cells and vessels."
Zhang W., Mojsilovic-Petrovic J., Andrade M.F., Zhang H., Ball M., Stanimirovic D.B.
FASEB J. 17:2085-2087(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS GLU-166 AND SER-208.
Tissue: Brain endothelium.
[8]Yoshikawa M., Yabuuchi H., Ikegami Y., Ishikawa T.
Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LYS-141.
[9]"Cell line K562 resistant to Hoechst 33342."
Sudarikov A., Makarik T., Andreeff M.
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-316.
[10]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Hippocampus and Placenta.
[11]SeattleSNPs variation discovery resource
Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MET-12; LYS-141; HIS-296 AND THR-528.
[12]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[13]"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 2), VARIANT LYS-141.
Tissue: Pancreas and PNS.
[14]"Molecular cloning of cDNAs which are highly overexpressed in mitoxantrone-resistant cells: demonstration of homology to ABC transport genes."
Miyake K., Mickley L., Litman T., Zhan Z., Robey R.W., Cristensen B., Brangi M., Greenberger L., Dean M., Fojo T., Bates S.E.
Cancer Res. 59:8-13(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 294-655 (ISOFORM 1).
[15]"Role of ABCG1 and other ABCG family members in lipid metabolism."
Schmitz G., Langmann T., Heimerl S.
J. Lipid Res. 42:1513-1520(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[16]"Characterization of oligomeric human half-ABC transporter ATP-binding cassette G2."
Xu J., Liu Y., Yang Y., Bates S., Zhang J.T.
J. Biol. Chem. 279:19781-19789(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT, SUBCELLULAR LOCATION.
[17]"N-linked glycosylation of the human ABC transporter ABCG2 on asparagine 596 is not essential for expression, transport activity, or trafficking to the plasma membrane."
Diop N.K., Hrycyna C.A.
Biochemistry 44:5420-5429(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-596, MUTAGENESIS OF ASN-418; ASN-557 AND ASN-596.
[18]"Single amino acid (482) variants of the ABCG2 multidrug transporter: major differences in transport capacity and substrate recognition."
Oezvegy-Laczka C., Koebloes G., Sarkadi B., Varadi A.
Biochim. Biophys. Acta 1668:53-63(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: MUTAGENESIS OF ARG-482.
[19]"Effect of Walker A mutation (K86M) on oligomerization and surface targeting of the multidrug resistance transporter ABCG2."
Henriksen U., Gether U., Litman T.
J. Cell Sci. 118:1417-1426(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: MUTAGENESIS OF LYS-86, SUBCELLULAR LOCATION, HOMODIMERIZATION.
[20]"Intramolecular disulfide bond is a critical check point determining degradative fates of ATP-binding cassette (ABC) transporter ABCG2 protein."
Wakabayashi K., Nakagawa H., Tamura A., Koshiba S., Hoshijima K., Komada M., Ishikawa T.
J. Biol. Chem. 282:27841-27846(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT, DISULFIDE BONDS.
[21]"Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study."
Dehghan A., Kottgen A., Yang Q., Hwang S.J., Kao W.L., Rivadeneira F., Boerwinkle E., Levy D., Hofman A., Astor B.C., Benjamin E.J., van Duijn C.M., Witteman J.C., Coresh J., Fox C.S.
Lancet 372:1953-1961(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN UAQTL1 AND GOUT.
[22]"Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout."
Woodward O.M., Kottgen A., Coresh J., Boerwinkle E., Guggino W.B., Kottgen M.
Proc. Natl. Acad. Sci. U.S.A. 106:10338-10342(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN UAQTL1, ASSOCIATION OF VARIANT LYS-141 WITH GOUT, CHARACTERIZATION OF VARIANT LYS-141.
[23]"Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population."
Matsuo H., Takada T., Ichida K., Nakamura T., Nakayama A., Ikebuchi Y., Ito K., Kusanagi Y., Chiba T., Tadokoro S., Takada Y., Oikawa Y., Inoue H., Suzuki K., Okada R., Nishiyama J., Domoto H., Watanabe S. expand/collapse author list , Fujita M., Morimoto Y., Naito M., Nishio K., Hishida A., Wakai K., Asai Y., Niwa K., Kamakura K., Nonoyama S., Sakurai Y., Hosoya T., Kanai Y., Suzuki H., Hamajima N., Shinomiya N.
Sci. Transl. Med. 1:5ra11-5ra11(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN UAQTL1, ASSOCIATION OF VARIANT LYS-141 WITH GOUT.
[24]"ABCG2 transports and transfers heme to albumin through its large extracellular loop."
Desuzinges-Mandon E., Arnaud O., Martinez L., Huche F., Di Pietro A., Falson P.
J. Biol. Chem. 285:33123-33133(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DOMAIN, MUTAGENESIS OF HIS-583; CYS-603 AND TYR-605.
[25]"ABCG2 is a high-capacity urate transporter and its genetic impairment increases serum uric acid levels in humans."
Nakayama A., Matsuo H., Takada T., Ichida K., Nakamura T., Ikebuchi Y., Ito K., Hosoya T., Kanai Y., Suzuki H., Shinomiya N.
Nucleosides Nucleotides Nucleic Acids 30:1091-1097(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[26]"Human ABCG2: structure, function, and its role in multidrug resistance."
Mo W., Zhang J.T.
Int. J. Biochem. Mol. Biol. 3:1-27(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[27]"ABCG2 null alleles define the Jr(a-) blood group phenotype."
Zelinski T., Coghlan G., Liu X.Q., Reid M.E.
Nat. Genet. 44:131-132(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN JR, VARIANT MET-12.
[28]"Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior."
Saison C., Helias V., Ballif B.A., Peyrard T., Puy H., Miyazaki T., Perrot S., Vayssier-Taussat M., Waldner M., Le Pennec P.Y., Cartron J.P., Arnaud L.
Nat. Genet. 44:174-177(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN JR.
[29]"Mitochondrial localization of ABC transporter ABCG2 and its function in 5-aminolevulinic acid-mediated protoporphyrin IX accumulation."
Kobuchi H., Moriya K., Ogino T., Fujita H., Inoue K., Shuin T., Yasuda T., Utsumi K., Utsumi T.
PLoS ONE 7:E50082-E50082(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[30]"Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y.
J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-12 AND LYS-141.
[31]"Eight novel single nucleotide polymorphisms in ABCG2/BCRP in Japanese cancer patients administered irinotacan."
Itoda M., Saito Y., Shirao K., Minami H., Ohtsu A., Yoshida T., Saijo N., Suzuki H., Sugiyama Y., Ozawa S., Sawada J.
Drug Metab. Pharmacokinet. 18:212-217(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LEU-431 AND LEU-489.
[32]"Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine."
Zamber C.P., Lamba J.K., Yasuda K., Farnum J., Thummel K., Schuetz J.D., Schuetz E.G.
Pharmacogenetics 13:19-28(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-12; LYS-141; LEU-206 AND TYR-590.
[33]"Single nucleotide polymorphisms modify the transporter activity of ABCG2."
Morisaki K., Robey R.W., Oezvegy-Laczka C., Honjo Y., Polgar O., Steadman K., Sarkadi B., Bates S.E.
Cancer Chemother. Pharmacol. 56:161-172(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS MET-12; LYS-141 AND ASN-620.
[34]"Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population."
Maekawa K., Itoda M., Sai K., Saito Y., Kaniwa N., Shirao K., Hamaguchi T., Kunitoh H., Yamamoto N., Tamura T., Minami H., Kubota K., Ohtsu A., Yoshida T., Saijo N., Kamatani N., Ozawa S., Sawada J.
Drug Metab. Pharmacokinet. 21:109-121(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-12; LEU-13; LYS-141; GLN-160; ARG-354; LEU-431; ASN-441 AND LEU-489.
+Additional computationally mapped references.

Web resources

SeattleSNPs
ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF103796 mRNA. Translation: AAD09188.1.
AF098951 mRNA. Translation: AAC97367.1.
AB056867 mRNA. Translation: BAB39212.1.
AB051855 mRNA. Translation: BAB46933.1.
AY017168 mRNA. Translation: AAG52982.1.
AY289766 mRNA. Translation: AAP44087.1.
AY288307 mRNA. Translation: AAP31310.1.
AF463519 mRNA. Translation: AAO14617.1.
AY333755 mRNA. Translation: AAQ92941.1.
AY333756 mRNA. Translation: AAQ92942.1.
AK002040 mRNA. Translation: BAA92050.1.
AK290000 mRNA. Translation: BAF82689.1.
DQ996467 Genomic DNA. Translation: ABI97388.1.
AC084732 Genomic DNA. No translation available.
AC097484 Genomic DNA. Translation: AAY40902.1.
BC021281 mRNA. Translation: AAH21281.1.
BC092408 mRNA. Translation: AAH92408.1.
AF093771 mRNA. No translation available.
AF093772 mRNA. No translation available.
RefSeqNP_001244315.1. NM_001257386.1.
NP_004818.2. NM_004827.2.
XP_005263411.1. XM_005263354.1.
XP_005263412.1. XM_005263355.1.
UniGeneHs.480218.

3D structure databases

ProteinModelPortalQ9UNQ0.
SMRQ9UNQ0. Positions 35-337.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114821. 3 interactions.
DIPDIP-29162N.
IntActQ9UNQ0. 3 interactions.
MINTMINT-2840423.

Chemistry

BindingDBQ9UNQ0.
ChEMBLCHEMBL5393.
DrugBankDB00619. Imatinib.
DB01204. Mitoxantrone.
DB00622. Nicardipine.
DB01054. Nitrendipine.
DB01098. Rosuvastatin.
DB01232. Saquinavir.
DB01030. Topotecan.

Protein family/group databases

TCDB3.A.1.204.2. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ9UNQ0.

Polymorphism databases

DMDM67462103.

Proteomic databases

PaxDbQ9UNQ0.
PRIDEQ9UNQ0.

Protocols and materials databases

DNASU9429.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000237612; ENSP00000237612; ENSG00000118777. [Q9UNQ0-1]
ENST00000515655; ENSP00000426917; ENSG00000118777. [Q9UNQ0-2]
GeneID9429.
KEGGhsa:9429.
UCSCuc003hrf.3. human. [Q9UNQ0-1]
uc003hrh.3. human. [Q9UNQ0-2]

Organism-specific databases

CTD9429.
GeneCardsGC04M089011.
HGNCHGNC:74. ABCG2.
HPACAB037299.
HPA054719.
MIM138900. phenotype.
603756. gene.
614490. phenotype.
neXtProtNX_Q9UNQ0.
PharmGKBPA390.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOVERGENHBG050441.
InParanoidQ9UNQ0.
KOK05681.
OMAFYKETKA.
OrthoDBEOG7HXCR2.
PhylomeDBQ9UNQ0.
TreeFamTF105211.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9UNQ0.
BgeeQ9UNQ0.
GenevestigatorQ9UNQ0.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR013525. ABC_2_trans.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF01061. ABC2_membrane. 1 hit.
PF00005. ABC_tran. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50893. ABC_TRANSPORTER_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCG2. human.
GeneWikiABCG2.
GenomeRNAi9429.
NextBio35322.
PROQ9UNQ0.
SOURCESearch...

Entry information

Entry nameABCG2_HUMAN
AccessionPrimary (citable) accession number: Q9UNQ0
Secondary accession number(s): A0A1W3 expand/collapse secondary AC list , A8K1T5, O95374, Q4W5I3, Q53ZQ1, Q569L4, Q5YLG4, Q86V64, Q8IX16, Q96LD6, Q96TA8, Q9BY73, Q9NUS0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 10, 2005
Last modified: April 16, 2014
This is version 145 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries