Details for: ABCC6
Associated with
Other Information
Genular Protein ID: 4209153301
Symbol: MRP6_HUMAN
Name: ATP-binding cassette sub-family C member 6
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10424734
Title: MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.
PubMed ID: 10424734
PubMed ID: 9892204
Title: Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.
PubMed ID: 9892204
PubMed ID: 11431746
Title: A cellular gene up-regulated by hepatitis B virus-encoded X antigen promotes hepatocellular growth and survival.
PubMed ID: 11431746
PubMed ID: 21318057
Title: Identification of a new splice variant of the human ABCC6 transporter.
PubMed ID: 21318057
DOI: 10.1155/2008/912478
PubMed ID: 10493829
Title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
PubMed ID: 10493829
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12414644
Title: Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6).
PubMed ID: 12414644
PubMed ID: 11880368
Title: Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
PubMed ID: 11880368
PubMed ID: 11427982
Title: Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
PubMed ID: 11427982
PubMed ID: 12901863
Title: Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.
PubMed ID: 12901863
PubMed ID: 23625951
Title: ABCC6 is a basolateral plasma membrane protein.
PubMed ID: 23625951
PubMed ID: 23912081
Title: The hepatitis B x antigen anti-apoptotic effector URG7 is localized to the endoplasmic reticulum membrane.
PubMed ID: 23912081
PubMed ID: 24277820
Title: ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
PubMed ID: 24277820
PubMed ID: 24969777
Title: ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.
PubMed ID: 24969777
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 35307651
Title: Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier.
PubMed ID: 35307651
PubMed ID: 10913334
Title: Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.
PubMed ID: 10913334
PubMed ID: 11058917
Title: Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
PubMed ID: 11058917
DOI: 10.1002/1098-1004(200011)16:5<449::aid-humu24>3.0.co;2-o
PubMed ID: 10954200
Title: Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
PubMed ID: 10954200
PubMed ID: 10835642
Title: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
PubMed ID: 10835642
DOI: 10.1038/76102
PubMed ID: 10811882
Title: Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
PubMed ID: 10811882
PubMed ID: 11536079
Title: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
PubMed ID: 11536079
DOI: 10.1086/323704
PubMed ID: 11702217
Title: Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
PubMed ID: 11702217
PubMed ID: 11776382
Title: ABCC6 gene polymorphism associated with variation in plasma lipoproteins.
PubMed ID: 11776382
PubMed ID: 15098239
Title: Does autosomal dominant pseudoxanthoma elasticum exist?
PubMed ID: 15098239
DOI: 10.1002/ajmg.a.20632
PubMed ID: 15459974
Title: ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
PubMed ID: 15459974
DOI: 10.1002/humu.9284
PubMed ID: 15086542
Title: Novel ABCC6 mutations in pseudoxanthoma elasticum.
PubMed ID: 15086542
PubMed ID: 16086317
Title: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
PubMed ID: 16086317
DOI: 10.1002/humu.20206
PubMed ID: 17617515
Title: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
PubMed ID: 17617515
PubMed ID: 18987736
Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PubMed ID: 18987736
DOI: 10.1038/nature07485
PubMed ID: 19339160
Title: Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
PubMed ID: 19339160
PubMed ID: 20034067
Title: An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
PubMed ID: 20034067
DOI: 10.1002/ajmg.a.33162
PubMed ID: 22209248
Title: Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
PubMed ID: 22209248
PubMed ID: 25615550
Title: Genetic heterogeneity of pseudoxanthoma elasticum: the chinese signature profile of ABCC6 and ENPP1 mutations.
PubMed ID: 25615550
DOI: 10.1038/jid.2015.10
PubMed ID: 30154241
Title: Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.
PubMed ID: 30154241
Sequence Information:
- Length: 1503
- Mass: 164906
- Checksum: 2107BE13B1547B39
- Sequence:
MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI YLLFIHHHGR GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE APEFLIHPTV WLTTMSFAVF LIHTERKKGV QSSGVLFGYW LLCFVLPATN AAQQASGAGF QSDPVRHLST YLCLSLVVAQ FVLSCLADQP PFFPEDPQQS NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG RENSSEELVS RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY LLAVLMFLSA CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS RKASAVGDVV NLVSVDVQRL TESVLYLNGL WLPLVWIVVC FVYLWQLLGP SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ MRQKDSRARL TSSILRNSKT IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ VSTFLVALVV FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN LTVPQGCLLA VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA WVQNTSVVEN VCFGQELDPP WLERVLEACA LQPDVDSFPE GIHTSIGEQG MNLSGGQKQR LSLARAVYRK AAVYLLDDPL AALDAHVGQH VFNQVIGPGG LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL LQRKGALMCL LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA LFLFLCQQVA SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI GLFASMAAVL LGGARASRLL FQRLLWDVVR SPISFFERTP IGHLLNRFSK ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV AVATPLATVA ILPLFLLYAG FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF RTQAPFVAQN NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL PTCAAQPPWP QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR TGAGKSSLAS GLLRLQEAAE GGIWIDGVPI AHVGLHTLRS RISIIPQDPI LFPGSLRMNL DLLQEHSDEA IWAALETVQL KALVASLPGQ LQYKCADRGE DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM QAMLGSWFAQ CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES GLV
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.