MRP6_HUMAN
Source: PM23856902Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ABCC6 , ARA, MRP6
Protein names and data: MRP6_HUMAN , Multidrug resistance-associated protein 6 , ATP-binding cassette sub-family C member 6; Anthracycline resistance-associated protein; Multi-specific organic anion transporter E; MOAT-E Lenght: 1503 a.a.
Mass: 164906 Da
fasta formatted sequence
Function: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).
Disease: ( OMIM: 264800 603234 614473 ) Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype. Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Basolateral cell membrane; Multi-pass membrane protein.
Tissue specificity: Expressed in kidney and liver. Very low expression in other tissues.
Genetic variants
60 - 62 Missing (in PXE; autosomal recessive). VAR_01336361 - 61 G -> D. VAR_013364
64 - 64 R -> W. VAR_013365
74 - 74 Missing (in PXE). VAR_067840
78 - 78 A -> T. VAR_067841
125 - 125 E -> K (in dbSNP:rs3853814). VAR_067842 3853814
129 - 129 G -> E (in PXE; autosomal recessive). VAR_067843
158 - 158 A -> V. VAR_067844
207 - 207 G -> R. VAR_013366
265 - 265 R -> G (in dbSNP:rs78629019). VAR_013367 78629019
281 - 281 K -> E (in dbSNP:rs4780606). VAR_013368 4780606
317 - 317 S -> R (in PXE; autosomal recessive; dbSNP:rs78678589). VAR_067845 78678589
319 - 319 I -> V (in dbSNP:rs72657699). VAR_013369 72657699
355 - 355 L -> R (in GACI2 and PXE; autosomal recessive; dbSNP:rs72653758). VAR_067846 72653758
363 - 373 Missing (in PXE). VAR_067847
364 - 364 T -> R (in PXE; autosomal recessive). VAR_013370
370 - 370 N -> D (in PXE; autosomal recessive; dbSNP:rs72653760). VAR_067848 72653760
382 - 382 R -> W (in PXE; dbSNP:rs72653761). VAR_067849 72653761
391 - 391 R -> G (in GACI2 and PXE; autosomal recessive; dbSNP:rs72653762). VAR_067850 72653762
392 - 392 K -> N (in PXE). VAR_067851
398 - 398 S -> G (in PXE; autosomal recessive; dbSNP:rs72653764). VAR_067852 72653764
411 - 411 N -> K (in PXE; autosomal dominant; dbSNP:rs9930886). VAR_013371 9930886
417 - 417 V -> M. VAR_067853
440 - 440 C -> G (in PXE; autosomal recessive; dbSNP:rs72653766). VAR_067854 72653766
455 - 455 A -> P (in PXE; autosomal dominant; dbSNP:rs67996819). VAR_013372 67996819
463 - 463 L -> H (in PXE; dbSNP:rs72653767). VAR_067855 72653767
495 - 495 L -> H (in PXE; autosomal recessive; dbSNP:rs72653769). VAR_067856 72653769
497 - 497 N -> K (in dbSNP:rs72653770). VAR_013373 72653770
514 - 514 V -> I (in dbSNP:rs59157279). VAR_067857 59157279
518 - 518 R -> Q (in PXE; autosomal recessive; dbSNP:rs72653772). VAR_013374 72653772
535 - 535 S -> P (in PXE; dbSNP:rs72653773). VAR_067858 72653773
551 - 551 F -> S (in PXE; autosomal recessive; dbSNP:rs72653774). VAR_067859 72653774
568 - 568 F -> S (in PXE; autosomal dominant; dbSNP:rs66864704). VAR_013375 66864704
590 - 590 S -> F (in GACI2). VAR_067860
594 - 594 A -> V (in PXE; autosomal recessive; dbSNP:rs72653776). VAR_067861 72653776
600 - 600 R -> C (in PXE; autosomal recessive; dbSNP:rs72653777). VAR_067862 72653777
614 - 614 V -> A (in dbSNP:rs12931472). VAR_011490 12931472
632 - 632 H -> Q (in dbSNP:rs8058694). VAR_013376 8058694
663 - 663 G -> C (in PXE; dbSNP:rs72653780). VAR_067863 72653780
665 - 665 V -> A (in dbSNP:rs4341770). VAR_055477 4341770
673 - 673 L -> P (in PXE; autosomal dominant; dbSNP:rs67470842). VAR_013377 67470842
677 - 677 L -> P (in PXE; autosomal recessive; dbSNP:rs72653782). VAR_067864 72653782
698 - 698 Q -> P (in PXE; dbSNP:rs72653783). VAR_067865 72653783
699 - 699 E -> D (in PXE; dbSNP:rs72653784). VAR_067866 72653784
724 - 724 R -> K (in dbSNP:rs58073789). VAR_067867 58073789
724 - 724 R -> L. VAR_067868
726 - 726 L -> P (in PXE; dbSNP:rs72653785). VAR_067869 72653785
742 - 742 I -> V (in dbSNP:rs59593133). VAR_067870 59593133
751 - 751 M -> K (in PXE; dbSNP:rs72653786). VAR_067871 72653786
755 - 755 G -> R (in PXE; dbSNP:rs72653787). VAR_067872 72653787
760 - 760 R -> W (in PXE; autosomal recessive; dbSNP:rs72653788). VAR_067873 72653788
765 - 765 R -> Q (in PXE; autosomal dominant and autosomal recessive; dbSNP:rs67561842). VAR_013378 67561842
766 - 766 A -> D (in PXE; autosomal recessive; dbSNP:rs72653789). VAR_067874 72653789
777 - 777 D -> N (in PXE; dbSNP:rs72653790). VAR_067875 72653790
807 - 807 R -> Q (in PXE; autosomal recessive; dbSNP:rs72653794). VAR_067876 72653794
807 - 807 R -> W (in PXE; autosomal recessive; dbSNP:rs72653793). VAR_067877 72653793
810 - 810 V -> M (in PXE; autosomal recessive; dbSNP:rs72653795). VAR_067878 72653795
811 - 811 T -> M (in PXE; dbSNP:rs72653796). VAR_067879 72653796
820 - 820 A -> P (in PXE; autosomal recessive; dbSNP:rs72653797). VAR_067880 72653797
848 - 848 M -> V (in dbSNP:rs6416668). VAR_059108 6416668
881 - 881 R -> S (in PXE; dbSNP:rs72653800). VAR_067881 72653800
944 - 944 T -> I (in PXE; dbSNP:rs72653801). VAR_067882 72653801
946 - 946 L -> I (in dbSNP:rs61340537). VAR_067883 61340537
950 - 950 A -> T (in PXE; dbSNP:rs72657689). VAR_067884 72657689
953 - 953 L -> H (in dbSNP:rs72657700). VAR_013379 72657700
992 - 992 G -> R (in PXE; dbSNP:rs72657692). VAR_067885 72657692
1036 - 1036 Missing (in GACI2 and PXE; autosomal recessive). VAR_067886
1048 - 1048 Missing (in PXE; autosomal recessive). VAR_067887
1056 - 1056 D -> E (in PXE; dbSNP:rs72657694). VAR_067888 72657694
1064 - 1064 R -> W (in dbSNP:rs41278174). VAR_067889 41278174
1097 - 1097 L -> I (in dbSNP:rs60707953). VAR_060988 60707953
1114 - 1114 R -> C (in GACI2 and PXE; autosomal recessive; dbSNP:rs63749794). VAR_067890 63749794
1114 - 1114 R -> P (in PXE; autosomal recessive). VAR_011491
1121 - 1121 S -> L (in PXE). VAR_067891
1121 - 1121 S -> W (in PXE; autosomal dominant). VAR_013380
1130 - 1130 T -> M (in PXE; autosomal recessive; dbSNP:rs63750459). VAR_067892 63750459
1133 - 1133 G -> A (in PXE; dbSNP:rs63750473). VAR_067893 63750473
1138 - 1138 R -> P (in PXE; autosomal dominant). VAR_013381
1138 - 1138 R -> Q (in PXE; autosomal recessive; dbSNP:rs60791294). VAR_011492 60791294
1138 - 1138 R -> W (in PXE; autosomal recessive; dbSNP:rs28939701). VAR_011493 28939701
1139 - 1139 A -> T (in PXE; dbSNP:rs63750146). VAR_067894 63750146
1164 - 1164 R -> Q (in PXE; autosomal recessive; dbSNP:rs63750457). VAR_067895 63750457
1203 - 1203 G -> D (in PXE; autosomal dominant; dbSNP:rs63750607). VAR_013382 63750607
1221 - 1221 R -> C (in PXE; autosomal recessive; dbSNP:rs63751215). VAR_067896 63751215
1221 - 1221 R -> H (in GACI2; dbSNP:rs63751001). VAR_067897 63751001
1226 - 1226 L -> I (in PXE; dbSNP:rs63750125). VAR_067898 63750125
1235 - 1235 R -> W (in PXE; autosomal recessive; dbSNP:rs63750402). VAR_067899 63750402
1238 - 1238 D -> H (in PXE; pseudodominant; dbSNP:rs63749796). VAR_067900 63749796
1241 - 1241 W -> C (in dbSNP:rs72657701). VAR_013383 72657701
1268 - 1268 R -> Q (associated with lower plasma triglycerides and higher plasma HDL cholesterol; dbSNP:rs2238472). VAR_011494 2238472
1298 - 1298 V -> F (in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport). VAR_013384
1301 - 1301 T -> I (in PXE; autosomal dominant; dbSNP:rs63750494). VAR_013385 63750494
1302 - 1302 G -> R (in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport; dbSNP:rs63749856). VAR_013386 63749856
1303 - 1303 A -> P (in PXE; autosomal dominant and autosomal recessive). VAR_013387
1314 - 1314 R -> Q (in PXE; autosomal dominant and autosomal recessive). VAR_013388
1314 - 1314 R -> W (in GACI2 and PXE; autosomal recessive; dbSNP:rs63750759). VAR_011495 63750759
1321 - 1321 G -> S (in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport; dbSNP:rs63749823). VAR_013389 63749823
1335 - 1335 L -> P (in PXE; autosomal recessive). VAR_067901
1335 - 1335 L -> Q (in PXE; dbSNP:rs63750414). VAR_067902 63750414
1339 - 1339 R -> C (in PXE; autosomal recessive; dbSNP:rs28939702). VAR_013390 28939702
1339 - 1339 R -> H (in PXE; autosomal recessive; dbSNP:rs63750622). VAR_067904 63750622
1339 - 1339 R -> L (in PXE; autosomal recessive). VAR_067903
1346 - 1346 P -> S (in PXE; autosomal recessive; dbSNP:rs63751112). VAR_067905 63751112
1347 - 1347 Q -> H (in PXE; autosomal dominant; dbSNP:rs67720869). VAR_013391 67720869
1354 - 1354 G -> R (in PXE; autosomal recessive; dbSNP:rs63750018). VAR_013392 63750018
1357 - 1357 R -> W (in PXE; autosomal recessive; dbSNP:rs63750428). VAR_067906 63750428
1361 - 1361 D -> N (in PXE; autosomal dominant; dbSNP:rs58695352). VAR_013393 58695352
1400 - 1400 E -> K (in PXE; autosomal recessive; dbSNP:rs63751241). VAR_067907 63751241
1406 - 1406 Q -> K (in PXE; autosomal recessive). VAR_067908
1424 - 1424 I -> T (in PXE; autosomal dominant; dbSNP:rs63750295). VAR_013394 63750295
1459 - 1459 R -> C (in PXE; putative autosomal dominant; dbSNP:rs72547524). VAR_067909 72547524
Database cross-references
UniProt: O95255Ensembl: ENST00000205557
Ensembl: ENST00000575728
MIM: 264800
MIM: 603234
MIM: 614473
neXtProt: NX_O95255
Antibodypedia: O95255 (may not find the protein thus also not any antibody)
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