Q9UNQ0 (ABCG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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
CD_antigen=CD338

Gene names

Name:	ABCG2
Synonyms:	ABCP, BCRP, BCRP1, MXR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	655 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. May be involved in brain-to-blood efflux. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin, display diminished intracellular accumulation of daunorubicin, and manifest an ATP-dependent increase in the efflux of rhodamine 123. Ref.7
Subunit structure	Monomer or homodimer; disulfide-linked. Ref.17 Ref.18
Subcellular location	Cell membrane; Multi-pass membrane protein Ref.15 Ref.17.
Tissue specificity	Highly expressed in placenta. Low expression in small intestine, liver and colon. Ref.1 Ref.2
Induction	Up-regulated in brain tumors.
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.
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 process	Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular iron ion homeostasis Traceable author statement. Source: Reactome urate metabolic process Inferred from mutant phenotype Ref.19PubMed 20053405. Source: UniProtKB
Cellular_component	integral to membrane Traceable author statement Ref.1. Source: ProtInc plasma membrane Traceable author statement. Source: Reactome
Molecular_function	ATP binding 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 xenobiotic-transporting ATPase activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PIM1	P11309-1	9	EBI-1569435,EBI-1018629

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 655	655	ATP-binding cassette sub-family G member 2		PRO_0000093386
Regions
	Topological domain	1 – 395	395	Cytoplasmic Potential
	Transmembrane	396 – 416	21	Helical; Potential
	Topological domain	417 – 428	12	Extracellular Potential
	Transmembrane	429 – 449	21	Helical; Potential
	Topological domain	450 – 477	28	Cytoplasmic Potential
	Transmembrane	478 – 498	21	Helical; Potential
	Topological domain	499 – 506	8	Extracellular Potential
	Transmembrane	507 – 527	21	Helical; Potential
	Topological domain	528 – 535	8	Cytoplasmic Potential
	Transmembrane	536 – 556	21	Helical; Potential
	Topological domain	557 – 630	74	Extracellular Potential
	Transmembrane	631 – 651	21	Helical; Potential
	Topological domain	652 – 655	4	Cytoplasmic Potential
	Domain	37 – 286	250	ABC transporter
	Domain	389 – 651	263	ABC transmembrane type-2
	Nucleotide binding	80 – 87	8	ATP Potential
Sites
	Site	418	1	Not glycosylated
	Site	557	1	Not glycosylated
Amino acid modifications
	Glycosylation	596	1	N-linked (GlcNAc...) Ref.15
	Disulfide bond	592 ↔ 608		Ref.18
	Disulfide bond	603		Interchain Ref.18
Natural variations
	Alternative sequence	550 – 611	62	IFSGL…TCTGE → VCWSISQPLHLGCHGFSTSA FHDMDLRLCSIMNFWDKTSA QDSMQQETILVTMQHVLAKN IW in isoform 2.		VSP_014232
	Alternative sequence	612 – 655	44	Missing in isoform 2.		VSP_014233
	Natural variant	12	1	V → M Found in Jr(a-) blood group phenotype. Ref.11 Ref.22 Ref.24 Ref.26 Ref.27 Ref.28 Corresponds to variant rs2231137 [ dbSNP | Ensembl ].		VAR_020779
	Natural variant	13	1	S → L. Ref.28		VAR_067363
	Natural variant	141	1	Q → 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.12 Ref.20 Ref.21 Ref.24 Ref.26 Ref.27 Ref.28 Corresponds to variant rs2231142 [ dbSNP | Ensembl ].		VAR_020780
	Natural variant	160	1	R → Q. Ref.28		VAR_067364
	Natural variant	166	1	Q → E. Ref.1 Ref.7 Corresponds to variant rs1061017 [ dbSNP | Ensembl ].		VAR_022704
	Natural variant	206	1	I → L. Ref.26		VAR_022705
	Natural variant	208	1	F → S. Ref.1 Ref.7 Corresponds to variant rs1061018 [ dbSNP | Ensembl ].		VAR_022706
	Natural variant	248	1	S → P. Corresponds to variant rs3116448 [ dbSNP | Ensembl ].		VAR_022707
	Natural variant	296	1	D → H. Ref.11 Corresponds to variant rs41282401 [ dbSNP | Ensembl ].		VAR_030357
	Natural variant	316	1	T → P. Ref.9		VAR_022443
	Natural variant	354	1	G → R. Ref.28 Corresponds to variant rs138606116 [ dbSNP | Ensembl ].		VAR_067365
	Natural variant	431	1	F → L. Ref.25 Ref.28		VAR_018349
	Natural variant	441	1	S → N. Ref.28		VAR_067366
	Natural variant	489	1	F → L. Ref.25 Ref.28		VAR_018350
	Natural variant	528	1	A → T. Ref.11 Corresponds to variant rs45605536 [ dbSNP | Ensembl ].		VAR_030358
	Natural variant	571	1	F → I. Corresponds to variant rs9282571 [ dbSNP | Ensembl ].		VAR_022708
	Natural variant	590	1	N → Y. Ref.26		VAR_035355
	Natural variant	620	1	D → N. Ref.27		VAR_022709
Experimental info
	Mutagenesis	86	1	K → M: Inactive and altered subcellular location. Ref.17
	Mutagenesis	418	1	N → Q: No effect. Ref.15
	Mutagenesis	482	1	R → D: Decreases ATPase activity. Ref.16
	Mutagenesis	482	1	R → G, N, S or T: Increases ATPase activity. Ref.16
	Mutagenesis	482	1	R → K, I, M or Y: No change in ATPase activity. Ref.16
	Mutagenesis	482	1	R → T or Y: Decreases transport activity. Ref.16
	Mutagenesis	557	1	N → Q: No effect. Ref.15
	Mutagenesis	596	1	N → Q: Loss of glycosylation. Ref.15
	Sequence conflict	24	1	A → V in AAD09188. Ref.1
	Sequence conflict	24	1	A → V in AAP44087. Ref.7
	Sequence conflict	315 – 316	2	Missing in BAA92050. Ref.10
	Sequence conflict	390	1	G → V in AAH92408. Ref.12
	Sequence conflict	482	1	R → G in AF093771. Ref.13
	Sequence conflict	482	1	R → G in AF093772. Ref.13
	Sequence conflict	482	1	R → T in AAC97367. Ref.2
	Sequence conflict	484 – 485	2	LP → FT in AF093772. Ref.13
	Sequence conflict	501	1	P → A in AAG52982. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 10, 2005. Version 3. Checksum: A8AF66B96034C5A8	FASTA	655	72,314
	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
	Isoform 2 [UniParc]. Checksum: 9F831226192A2D39	FASTA	611	67,453
	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 MTICFVFMMV CWSISQPLHL GCHGFSTSAF HDMDLRLCSI MNFWDKTSAQ DSMQQETILV 610 TMQHVLAKNI W

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.
[13]	"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).
[14]	"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.
[15]	"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.
[16]	"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.
[17]	"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.
[18]	"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.
[19]	"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.
[20]	"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.
[21]	"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. , 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.
[22]	"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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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.
[27]	"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.
[28]	"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. BC021281 mRNA. Translation: AAH21281.1. BC092408 mRNA. Translation: AAH92408.1. AF093771 mRNA. No translation available. AF093772 mRNA. No translation available.
IPI	IPI00298214. IPI00607625.
RefSeq	NP_001244315.1. NM_001257386.1. NP_004818.2. NM_004827.2.
UniGene	Hs.480218.
3D structure databases
ProteinModelPortal	Q9UNQ0.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-29162N.
IntAct	Q9UNQ0. 2 interactions.
MINT	MINT-2840423.
Protein family/group databases
TCDB	3.A.1.204.2. ATP-binding cassette (ABC) superfamily.
PTM databases
PhosphoSite	Q9UNQ0.
Polymorphism databases
DMDM	67462103.
Proteomic databases
PaxDb	Q9UNQ0.
PRIDE	Q9UNQ0.
Protocols and materials databases
DNASU	9429.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000237612; ENSP00000237612; ENSG00000118777. ENST00000515655; ENSP00000426917; ENSG00000118777.
GeneID	9429.
KEGG	hsa:9429.
UCSC	uc003hrf.3. human. uc003hrh.3. human.
Organism-specific databases
CTD	9429.
GeneCards	GC04M089011.
HGNC	HGNC:74. ABCG2.
HPA	CAB037299.
MIM	138900. phenotype. 603756. gene. 614490. phenotype.
neXtProt	NX_Q9UNQ0.
PharmGKB	PA390.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOVERGEN	HBG050441.
InParanoid	Q9UNQ0.
KO	K05681.
OMA	SSFYKET.
PhylomeDB	Q9UNQ0.
Enzyme and pathway databases
Pathway_Interaction_DB	hif1_tfpathway. HIF-1-alpha transcription factor network.
Reactome	REACT_111217. Metabolism. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q9UNQ0.
Bgee	Q9UNQ0.
Genevestigator	Q9UNQ0.
GermOnline	ENSG00000118777. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR013525. ABC_2_trans. IPR003439. ABC_transporter-like. IPR027417. P-loop_NTPase. [Graphical view]
Pfam	PF01061. ABC2_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
SUPFAM	SSF52540. SSF52540. 1 hit.
PROSITE	PS51012. ABC_TM2. False negative. PS00211. ABC_TRANSPORTER_1. False negative. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q9UNQ0.
ChEMBL	CHEMBL5393.
ChiTaRS	ABCG2. human.
DrugBank	DB00619. Imatinib. DB01204. Mitoxantrone. DB00622. Nicardipine. DB01054. Nitrendipine. DB01098. Rosuvastatin. DB01232. Saquinavir. DB01030. Topotecan.
GenomeRNAi	9429.
NextBio	35322.
SOURCE	Search...

Entry information

Entry name

ABCG2_HUMAN

Accession

Primary (citable) accession number: Q9UNQ0
Secondary accession number(s): A0A1W3 , A8K1T5, O95374, 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:	May 29, 2013
This is version 135 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.