Property Summary

NCBI Gene PubMed Count 106
Grant Count 83
R01 Count 45
Funding $13,914,551.2
PubMed Score 526.54
PubTator Score 267.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Synonym

Accession O95255 A2RRN8 A8KIG6 A8Y988 E7ESW8 P78420 Q8TCY8 Q9UMZ7
Symbols ARA
PXE
MLP1
MRP6
PXE1
URG7
ABC34
GACI2
MOATE
MOAT-E
EST349056

Gene

Gene RIF (84)

PMID Text
26564082 Pseudoxanthoma elasticum is due to mutation of the ABCC6 gene on chromosome 16.
26545497 Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6
25615550 Minimal rescue of the morpholino-induced phenotype was achieved with eight of the nine mutant human ABCC6 mRNAs tested, implying pathogenicity. This study demonstrates that the Chinese PXE population harbors unique ABCC6 mutations.
25169437 A direct relationship between reduced ABCC6 levels and the expression of pro-mineralization genes in hepatocytes.
25064003 The increase in ABCC6 expression accompanied by the induction of cholesterol biosynthesis supposes a functional role for ABCC6 in human lipoprotein and cholesterol homeostasis.
25062064 Virtual screening expands this possibility to explore more compounds that can interact with ABCC6, and may aid in understanding the mechanisms leading to pseudoxanthoma elasticum
24969777 Hepatic ABCC6-mediated ATP release is the main source of circulating PPi, revealing an unanticipated role of the liver in systemic PPi homeostasis.
24555429 This study describes the URG7 expression in E.coli and a structural study of it by using circular dichroism and fluorescence spectroscopy.
24479134 This study showed that the expression of ABCC6 in liver is an important determinant of calcification in cardiac tissues in response to injuries
24352041 analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6, and the correction of their mislocalization by chemical chaperone 4-phenylbutyrate
More...

AA Sequence

MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFK      1 - 70
AKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYW     71 - 140
LLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAF    141 - 210
PSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGM    211 - 280
KAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGY    281 - 350
LLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRL    351 - 420
TESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARL    421 - 490
TSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAEN    491 - 560
AMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCIT    561 - 630
IHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEA    631 - 700
WVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRK    701 - 770
AAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQEL    771 - 840
LQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPL    841 - 910
DDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQ    911 - 980
QTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSK    981 - 1050
ETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASY   1051 - 1120
SSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCA   1121 - 1190
VLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWP   1191 - 1260
QGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPI   1261 - 1330
AHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGE   1331 - 1400
DLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVL   1401 - 1470
VMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV                                        1471 - 1503
//

Text Mined References (113)

PMID Year Title
26564082 2015 Pseudoxanthoma elasticum.
26545497 2015 Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6 (MRP6).
25615550 2015 Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
25169437 2014 Dysregulation of gene expression in ABCC6 knockdown HepG2 cells.
25064003 2014 ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?
25062064 2014 Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.
24969777 2014 ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.
24555429 2014 Expression, purification and structural characterization of up-regulated gene 7 encoded protein.
24479134 2014 The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.
24352041 2014 Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.
More...