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Q9UNQ0

- ABCG2_HUMAN

UniProt

Q9UNQ0 - ABCG2_HUMAN

Protein

ATP-binding cassette sub-family G member 2

Gene

ABCG2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (10 May 2005)
      Previous versions | rss
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    Functioni

    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.4 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei418 – 4181Not glycosylated
    Sitei557 – 5571Not glycosylated

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi80 – 878ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
    2. ATP binding Source: ProtInc
    3. heme transporter activity Source: Reactome
    4. protein binding Source: IntAct
    5. protein homodimerization activity Source: BHF-UCL
    6. transporter activity Source: ProtInc
    7. xenobiotic-transporting ATPase activity Source: ProtInc

    GO - Biological processi

    1. cellular iron ion homeostasis Source: Reactome
    2. drug transmembrane transport Source: Reactome
    3. heme transport Source: GOC
    4. response to drug Source: ProtInc
    5. small molecule metabolic process Source: Reactome
    6. transmembrane transport Source: Reactome
    7. transport Source: ProtInc
    8. urate metabolic process Source: UniProtKB
    9. xenobiotic transport Source: GOC

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_120801. Abacavir transmembrane transport.
    REACT_25060. Iron uptake and transport.

    Protein family/group databases

    TCDBi3.A.1.204.2. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    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
    Urate exporter
    CD_antigen: CD338
    Gene namesi
    Name:ABCG2
    Synonyms:ABCP, BCRP, BCRP1, MXR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:74. ABCG2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: ProtInc
    2. mitochondrial membrane Source: UniProtKB-SubCell
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane, Mitochondrion

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi86 – 861K → M: Inactive and altered subcellular location. 1 Publication
    Mutagenesisi418 – 4181N → Q: No effect. 1 Publication
    Mutagenesisi482 – 4821R → D: Decreases ATPase activity. 1 Publication
    Mutagenesisi482 – 4821R → G, N, S or T: Increases ATPase activity. 1 Publication
    Mutagenesisi482 – 4821R → K, I, M or Y: No change in ATPase activity. 1 Publication
    Mutagenesisi482 – 4821R → T or Y: Decreases transport activity. 1 Publication
    Mutagenesisi557 – 5571N → Q: No effect. 1 Publication
    Mutagenesisi583 – 5831H → A: Strongly reduced binding to hemin but not to PPIX. 1 Publication
    Mutagenesisi596 – 5961N → Q: Loss of glycosylation. 1 Publication
    Mutagenesisi603 – 6031C → A: Strongly reduced binding to hemin but not to PPIX. 1 Publication
    Mutagenesisi605 – 6051Y → A: No effect on hemin binding. 1 Publication

    Organism-specific databases

    MIMi138900. phenotype.
    614490. phenotype.
    PharmGKBiPA390.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 655655ATP-binding cassette sub-family G member 2PRO_0000093386Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi592 ↔ 6081 Publication
    Glycosylationi596 – 5961N-linked (GlcNAc...)1 Publication
    Disulfide bondi603 – 603Interchain1 Publication

    Post-translational modificationi

    Glycosylation-deficient ABCG2 is normally expressed and functional.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9UNQ0.
    PaxDbiQ9UNQ0.
    PRIDEiQ9UNQ0.

    PTM databases

    PhosphoSiteiQ9UNQ0.

    Expressioni

    Tissue specificityi

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

    Inductioni

    Up-regulated in brain tumors.

    Gene expression databases

    ArrayExpressiQ9UNQ0.
    BgeeiQ9UNQ0.
    GenevestigatoriQ9UNQ0.

    Organism-specific databases

    HPAiCAB037299.
    HPA054719.

    Interactioni

    Subunit structurei

    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.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PIM1P11309-19EBI-1569435,EBI-1018629
    UBCP0CG482EBI-1569435,EBI-3390054

    Protein-protein interaction databases

    BioGridi114821. 3 interactions.
    DIPiDIP-29162N.
    IntActiQ9UNQ0. 3 interactions.
    MINTiMINT-2840423.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UNQ0.
    SMRiQ9UNQ0. Positions 37-337.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 395395CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini417 – 42812ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini450 – 47728CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini499 – 5068ExtracellularSequence Analysis
    Topological domaini528 – 5358CytoplasmicSequence Analysis
    Topological domaini557 – 63074ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini652 – 6554CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei396 – 41621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei429 – 44921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei478 – 49821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei507 – 52721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei536 – 55621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei631 – 65121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini37 – 286250ABC transporterPROSITE-ProRule annotationAdd
    BLAST
    Domaini389 – 651263ABC transmembrane type-2Add
    BLAST

    Domaini

    The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin.1 Publication

    Sequence similaritiesi

    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1131.
    HOVERGENiHBG050441.
    InParanoidiQ9UNQ0.
    KOiK05681.
    OMAiFYKETKA.
    OrthoDBiEOG7HXCR2.
    PhylomeDBiQ9UNQ0.
    TreeFamiTF105211.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR013525. ABC_2_trans.
    IPR003439. ABC_transporter-like.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF01061. ABC2_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UNQ0-1) [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

    MSSSNVEVFI PVSQGNTNGF PATASNDLKA FTEGAVLSFH NICYRVKLKS    50
    GFLPCRKPVE KEILSNINGI MKPGLNAILG PTGGGKSSLL DVLAARKDPS 100
    GLSGDVLING APRPANFKCN SGYVVQDDVV MGTLTVRENL QFSAALRLAT 150
    TMTNHEKNER INRVIQELGL DKVADSKVGT QFIRGVSGGE RKRTSIGMEL 200
    ITDPSILFLD EPTTGLDSST ANAVLLLLKR MSKQGRTIIF SIHQPRYSIF 250
    KLFDSLTLLA SGRLMFHGPA QEALGYFESA GYHCEAYNNP ADFFLDIING 300
    DSTAVALNRE EDFKATEIIE PSKQDKPLIE KLAEIYVNSS FYKETKAELH 350
    QLSGGEKKKK ITVFKEISYT TSFCHQLRWV SKRSFKNLLG NPQASIAQII 400
    VTVVLGLVIG AIYFGLKNDS TGIQNRAGVL FFLTTNQCFS SVSAVELFVV 450
    EKKLFIHEYI SGYYRVSSYF LGKLLSDLLP MRMLPSIIFT CIVYFMLGLK 500
    PKADAFFVMM FTLMMVAYSA SSMALAIAAG QSVVSVATLL MTICFVFMMI 550
    FSGLLVNLTT IASWLSWLQY FSIPRYGFTA LQHNEFLGQN FCPGLNATGN 600
    NPCNYATCTG EEYLVKQGID LSPWGLWKNH VALACMIVIF LTIAYLKLLF 650
    LKKYS 655
    Length:655
    Mass (Da):72,314
    Last modified:May 10, 2005 - v3
    Checksum:iA8AF66B96034C5A8
    GO
    Isoform 2 (identifier: Q9UNQ0-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:611
    Mass (Da):67,453
    Checksum:i9F831226192A2D39
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti24 – 241A → V in AAD09188. (PubMed:9850061)Curated
    Sequence conflicti24 – 241A → V in AAP44087. (PubMed:12958161)Curated
    Sequence conflicti315 – 3162Missing in BAA92050. (PubMed:14702039)Curated
    Sequence conflicti390 – 3901G → V in AAH92408. (PubMed:15489334)Curated
    Sequence conflicti482 – 4821R → G in AF093771. (PubMed:9892175)Curated
    Sequence conflicti482 – 4821R → G in AF093772. (PubMed:9892175)Curated
    Sequence conflicti482 – 4821R → T in AAC97367. (PubMed:9861027)Curated
    Sequence conflicti484 – 4852LP → FT in AF093772. (PubMed:9892175)Curated
    Sequence conflicti501 – 5011P → A in AAG52982. (PubMed:11533706)Curated

    Polymorphismi

    Genetic variations in ABCG2 define the blood group Junior system (JR) [MIMi: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) [MIMi: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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121V → M Found in Jr(a-) blood group phenotype. 5 Publications
    Corresponds to variant rs2231137 [ dbSNP | Ensembl ].
    VAR_020779
    Natural varianti13 – 131S → L.1 Publication
    VAR_067363
    Natural varianti141 – 1411Q → 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. 6 Publications
    Corresponds to variant rs2231142 [ dbSNP | Ensembl ].
    VAR_020780
    Natural varianti160 – 1601R → Q.1 Publication
    VAR_067364
    Natural varianti166 – 1661Q → E.2 Publications
    Corresponds to variant rs1061017 [ dbSNP | Ensembl ].
    VAR_022704
    Natural varianti206 – 2061I → L.1 Publication
    VAR_022705
    Natural varianti208 – 2081F → S.2 Publications
    Corresponds to variant rs1061018 [ dbSNP | Ensembl ].
    VAR_022706
    Natural varianti248 – 2481S → P.
    Corresponds to variant rs3116448 [ dbSNP | Ensembl ].
    VAR_022707
    Natural varianti296 – 2961D → H.1 Publication
    Corresponds to variant rs41282401 [ dbSNP | Ensembl ].
    VAR_030357
    Natural varianti316 – 3161T → P.1 Publication
    VAR_022443
    Natural varianti354 – 3541G → R.1 Publication
    Corresponds to variant rs138606116 [ dbSNP | Ensembl ].
    VAR_067365
    Natural varianti431 – 4311F → L.2 Publications
    VAR_018349
    Natural varianti441 – 4411S → N.1 Publication
    VAR_067366
    Natural varianti489 – 4891F → L.2 Publications
    Corresponds to variant rs192169063 [ dbSNP | Ensembl ].
    VAR_018350
    Natural varianti528 – 5281A → T.1 Publication
    Corresponds to variant rs45605536 [ dbSNP | Ensembl ].
    VAR_030358
    Natural varianti571 – 5711F → I.
    Corresponds to variant rs9282571 [ dbSNP | Ensembl ].
    VAR_022708
    Natural varianti590 – 5901N → Y.1 Publication
    Corresponds to variant rs34264773 [ dbSNP | Ensembl ].
    VAR_035355
    Natural varianti620 – 6201D → N.
    Corresponds to variant rs34783571 [ dbSNP | Ensembl ].
    VAR_022709

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei550 – 61162IFSGL…TCTGE → VCWSISQPLHLGCHGFSTSA FHDMDLRLCSIMNFWDKTSA QDSMQQETILVTMQHVLAKN IW in isoform 2. 1 PublicationVSP_014232Add
    BLAST
    Alternative sequencei612 – 65544Missing in isoform 2. 1 PublicationVSP_014233Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS3628.1. [Q9UNQ0-1]
    CCDS58910.1. [Q9UNQ0-2]
    RefSeqiNP_001244315.1. NM_001257386.1. [Q9UNQ0-2]
    NP_004818.2. NM_004827.2. [Q9UNQ0-1]
    XP_005263411.1. XM_005263354.1. [Q9UNQ0-1]
    XP_005263412.1. XM_005263355.1. [Q9UNQ0-1]
    UniGeneiHs.480218.

    Genome annotation databases

    EnsembliENST00000237612; ENSP00000237612; ENSG00000118777. [Q9UNQ0-1]
    ENST00000515655; ENSP00000426917; ENSG00000118777. [Q9UNQ0-2]
    GeneIDi9429.
    KEGGihsa:9429.
    UCSCiuc003hrf.3. human. [Q9UNQ0-1]
    uc003hrh.3. human. [Q9UNQ0-2]

    Polymorphism databases

    DMDMi67462103.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SeattleSNPs
    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS3628.1. [Q9UNQ0-1 ]
    CCDS58910.1. [Q9UNQ0-2 ]
    RefSeqi NP_001244315.1. NM_001257386.1. [Q9UNQ0-2 ]
    NP_004818.2. NM_004827.2. [Q9UNQ0-1 ]
    XP_005263411.1. XM_005263354.1. [Q9UNQ0-1 ]
    XP_005263412.1. XM_005263355.1. [Q9UNQ0-1 ]
    UniGenei Hs.480218.

    3D structure databases

    ProteinModelPortali Q9UNQ0.
    SMRi Q9UNQ0. Positions 37-337.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114821. 3 interactions.
    DIPi DIP-29162N.
    IntActi Q9UNQ0. 3 interactions.
    MINTi MINT-2840423.

    Chemistry

    BindingDBi Q9UNQ0.
    ChEMBLi CHEMBL5393.
    DrugBanki DB08916. Afatinib.
    DB06605. Apixaban.
    DB00921. Buprenorphine.
    DB06772. Cabazitaxel.
    DB00958. Carboplatin.
    DB00515. Cisplatin.
    DB00242. Cladribine.
    DB00631. Clofarabine.
    DB00286. Conjugated Estrogens.
    DB00091. Cyclosporine.
    DB08912. Dabrafenib.
    DB00970. Dactinomycin.
    DB01254. Dasatinib.
    DB00694. Daunorubicin.
    DB01234. Dexamethasone.
    DB00255. Diethylstilbestrol.
    DB01248. Docetaxel.
    DB00997. Doxorubicin.
    DB00470. Dronabinol.
    DB00530. Erlotinib.
    DB00783. Estradiol.
    DB00655. Estrone.
    DB00773. Etoposide.
    DB00973. Ezetimibe.
    DB00544. Fluorouracil.
    DB00158. Folic Acid.
    DB00317. Gefitinib.
    DB01016. Glyburide.
    DB01094. Hesperetin.
    DB00741. Hydrocortisone.
    DB00619. Imatinib.
    DB00762. Irinotecan.
    DB00602. Ivermectin.
    DB00709. Lamivudine.
    DB00448. Lansoprazole.
    DB01097. Leflunomide.
    DB00563. Methotrexate.
    DB01204. Mitoxantrone.
    DB00688. Mycophenolate mofetil.
    DB00220. Nelfinavir.
    DB04868. Nilotinib.
    DB00698. Nitrofurantoin.
    DB01051. Novobiocin.
    DB00338. Omeprazole.
    DB00526. Oxaliplatin.
    DB01229. Paclitaxel.
    DB00213. Pantoprazole.
    DB06589. Pazopanib.
    DB08860. Pitavastatin.
    DB08901. Ponatinib.
    DB00175. Pravastatin.
    DB00457. Prazosin.
    DB01129. Rabeprazole.
    DB08896. Regorafenib.
    DB08864. Rilpivirine.
    DB00740. Riluzole.
    DB00503. Ritonavir.
    DB01098. Rosuvastatin.
    DB01232. Saquinavir.
    DB00398. Sorafenib.
    DB00795. Sulfasalazine.
    DB00669. Sumatriptan.
    DB01268. Sunitinib.
    DB00675. Tamoxifen.
    DB00966. Telmisartan.
    DB00444. Teniposide.
    DB08880. Teriflunomide.
    DB00624. Testosterone.
    DB01030. Topotecan.
    DB05294. Vandetanib.
    DB08881. Vemurafenib.
    DB00285. Venlafaxine.
    DB00661. Verapamil.
    DB00541. Vincristine.
    DB08828. Vismodegib.
    DB00549. Zafirlukast.
    DB00495. Zidovudine.

    Protein family/group databases

    TCDBi 3.A.1.204.2. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q9UNQ0.

    Polymorphism databases

    DMDMi 67462103.

    Proteomic databases

    MaxQBi Q9UNQ0.
    PaxDbi Q9UNQ0.
    PRIDEi Q9UNQ0.

    Protocols and materials databases

    DNASUi 9429.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000237612 ; ENSP00000237612 ; ENSG00000118777 . [Q9UNQ0-1 ]
    ENST00000515655 ; ENSP00000426917 ; ENSG00000118777 . [Q9UNQ0-2 ]
    GeneIDi 9429.
    KEGGi hsa:9429.
    UCSCi uc003hrf.3. human. [Q9UNQ0-1 ]
    uc003hrh.3. human. [Q9UNQ0-2 ]

    Organism-specific databases

    CTDi 9429.
    GeneCardsi GC04M089011.
    HGNCi HGNC:74. ABCG2.
    HPAi CAB037299.
    HPA054719.
    MIMi 138900. phenotype.
    603756. gene.
    614490. phenotype.
    neXtProti NX_Q9UNQ0.
    PharmGKBi PA390.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOVERGENi HBG050441.
    InParanoidi Q9UNQ0.
    KOi K05681.
    OMAi FYKETKA.
    OrthoDBi EOG7HXCR2.
    PhylomeDBi Q9UNQ0.
    TreeFami TF105211.

    Enzyme and pathway databases

    Reactomei REACT_120801. Abacavir transmembrane transport.
    REACT_25060. Iron uptake and transport.

    Miscellaneous databases

    ChiTaRSi ABCG2. human.
    GeneWikii ABCG2.
    GenomeRNAii 9429.
    NextBioi 35322.
    PROi Q9UNQ0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UNQ0.
    Bgeei Q9UNQ0.
    Genevestigatori Q9UNQ0.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR013525. ABC_2_trans.
    IPR003439. ABC_transporter-like.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF01061. ABC2_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. "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.
      , 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. 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. Cited for: CHARACTERIZATION OF VARIANTS MET-12; LYS-141 AND ASN-620.
    34. Cited for: VARIANTS MET-12; LEU-13; LYS-141; GLN-160; ARG-354; LEU-431; ASN-441 AND LEU-489.

    Entry informationi

    Entry nameiABCG2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UNQ0
    Secondary accession number(s): A0A1W3
    , A8K1T5, O95374, Q4W5I3, Q53ZQ1, Q569L4, Q5YLG4, Q86V64, Q8IX16, Q96LD6, Q96TA8, Q9BY73, Q9NUS0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 150 of the entry and version 3 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

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3