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Q9UNQ0

- ABCG2_HUMAN

UniProt

Q9UNQ0 - ABCG2_HUMAN

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Protein
ATP-binding cassette sub-family G member 2
Gene
ABCG2, ABCP, BCRP, BCRP1, MXR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 878ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: ProtInc
  2. ATPase activity, coupled to transmembrane movement of substances 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
Complete GO annotation...

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
Complete GO annotation...

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

Cell membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein 4 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 395395Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei396 – 41621Helical; Reviewed prediction
Add
BLAST
Topological domaini417 – 42812Extracellular Reviewed prediction
Add
BLAST
Transmembranei429 – 44921Helical; Reviewed prediction
Add
BLAST
Topological domaini450 – 47728Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei478 – 49821Helical; Reviewed prediction
Add
BLAST
Topological domaini499 – 5068Extracellular Reviewed prediction
Transmembranei507 – 52721Helical; Reviewed prediction
Add
BLAST
Topological domaini528 – 5358Cytoplasmic Reviewed prediction
Transmembranei536 – 55621Helical; Reviewed prediction
Add
BLAST
Topological domaini557 – 63074Extracellular Reviewed prediction
Add
BLAST
Transmembranei631 – 65121Helical; Reviewed prediction
Add
BLAST
Topological domaini652 – 6554Cytoplasmic Reviewed prediction

GO - Cellular componenti

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

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 2
PRO_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.

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.3 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.

Family & Domainsi

Domains and Repeats

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

Domaini

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

Sequence similaritiesi

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.

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. 6 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. 9 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.1 Publication
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.
VSP_014232Add
BLAST
Alternative sequencei612 – 65544Missing in isoform 2.
VSP_014233Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 241A → V in AAD09188. 1 Publication
Sequence conflicti24 – 241A → V in AAP44087. 1 Publication
Sequence conflicti315 – 3162Missing in BAA92050. 1 Publication
Sequence conflicti390 – 3901G → V in AAH92408. 1 Publication
Sequence conflicti482 – 4821R → G in AF093771. 1 Publication
Sequence conflicti482 – 4821R → G in AF093772. 1 Publication
Sequence conflicti482 – 4821R → T in AAC97367. 1 Publication
Sequence conflicti484 – 4852LP → FT in AF093772. 1 Publication
Sequence conflicti501 – 5011P → A in AAG52982. 1 Publication

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...

Protein-protein interaction databases

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

Chemistry

BindingDBi Q9UNQ0.
ChEMBLi CHEMBL5393.
DrugBanki DB00619. Imatinib.
DB01204. Mitoxantrone.
DB00622. Nicardipine.
DB01054. Nitrendipine.
DB01098. Rosuvastatin.
DB01232. Saquinavir.
DB01030. Topotecan.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 149 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

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