O95255 (MRP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 142.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Multidrug resistance-associated protein 6 Alternative name(s): ATP-binding cassette sub-family C member 6 Anthracycline resistance-associated protein Multi-specific organic anion transporter E Short name=MOAT-E | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1503 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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). Ref.5 |
| Subcellular location | Membrane; Multi-pass membrane protein By similarity. Note: Localized to the basolateral membrane. Ref.7 |
| Tissue specificity | Expressed in kidney and liver. Very low expression in other tissues. |
| Involvement in disease | 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. 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. |
| Sequence similarities | Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. [View classification] Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains. |
| Sequence caution | The sequence AAC15785.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1503 | 1503 | Multidrug resistance-associated protein 6 | PRO_0000093366 | |||||
Regions | |||||||||
| Topological domain | 1 – 31 | 31 | Extracellular By similarity | ||||||
| Transmembrane | 32 – 52 | 21 | Helical; Name=1; By similarity | ||||||
| Topological domain | 53 – 72 | 20 | Cytoplasmic By similarity | ||||||
| Transmembrane | 73 – 93 | 21 | Helical; Name=2; By similarity | ||||||
| Topological domain | 94 – 98 | 5 | Extracellular By similarity | ||||||
| Transmembrane | 99 – 119 | 21 | Helical; Name=3; By similarity | ||||||
| Topological domain | 120 – 131 | 12 | Cytoplasmic By similarity | ||||||
| Transmembrane | 132 – 149 | 18 | Helical; Name=4; By similarity | ||||||
| Topological domain | 150 – 167 | 18 | Extracellular By similarity | ||||||
| Transmembrane | 168 – 188 | 21 | Helical; Name=5; By similarity | ||||||
| Topological domain | 189 – 302 | 114 | Cytoplasmic By similarity | ||||||
| Transmembrane | 303 – 323 | 21 | Helical; Name=6; By similarity | ||||||
| Topological domain | 324 – 349 | 26 | Extracellular By similarity | ||||||
| Transmembrane | 350 – 370 | 21 | Helical; Name=7; By similarity | ||||||
| Topological domain | 371 – 426 | 56 | Cytoplasmic By similarity | ||||||
| Transmembrane | 427 – 447 | 21 | Helical; Name=8; By similarity | ||||||
| Topological domain | 448 – 450 | 3 | Extracellular By similarity | ||||||
| Transmembrane | 451 – 471 | 21 | Helical; Name=9; By similarity | ||||||
| Topological domain | 472 – 533 | 62 | Cytoplasmic By similarity | ||||||
| Transmembrane | 534 – 554 | 21 | Helical; Name=10; By similarity | ||||||
| Topological domain | 555 – 575 | 21 | Extracellular By similarity | ||||||
| Transmembrane | 576 – 596 | 21 | Helical; Name=11; By similarity | ||||||
| Topological domain | 597 – 939 | 343 | Cytoplasmic By similarity | ||||||
| Transmembrane | 940 – 960 | 21 | Helical; Name=12; By similarity | ||||||
| Topological domain | 961 – 997 | 37 | Extracellular By similarity | ||||||
| Transmembrane | 998 – 1018 | 21 | Helical; Name=13; By similarity | ||||||
| Topological domain | 1019 – 1061 | 43 | Cytoplasmic By similarity | ||||||
| Transmembrane | 1062 – 1082 | 21 | Helical; Name=14; By similarity | ||||||
| Topological domain | 1083 | 1 | Extracellular By similarity | ||||||
| Transmembrane | 1084 – 1104 | 21 | Helical; Name=15; By similarity | ||||||
| Topological domain | 1105 – 1175 | 71 | Cytoplasmic By similarity | ||||||
| Transmembrane | 1176 – 1196 | 21 | Helical; Name=16; By similarity | ||||||
| Topological domain | 1197 – 1198 | 2 | Extracellular By similarity | ||||||
| Transmembrane | 1199 – 1219 | 21 | Helical; Name=17; By similarity | ||||||
| Topological domain | 1220 – 1503 | 284 | Cytoplasmic By similarity | ||||||
| Domain | 311 – 593 | 283 | ABC transmembrane type-1 1 | ||||||
| Domain | 629 – 853 | 225 | ABC transporter 1 | ||||||
| Domain | 947 – 1228 | 282 | ABC transmembrane type-1 2 | ||||||
| Domain | 1265 – 1499 | 235 | ABC transporter 2 | ||||||
| Nucleotide binding | 663 – 670 | 8 | ATP 1 Potential | ||||||
| Nucleotide binding | 1299 – 1306 | 8 | ATP 2 Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 244 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 902 | 1 | Phosphoserine By similarity | ||||||
| Glycosylation | 15 | 1 | N-linked (GlcNAc...) Probable | ||||||
Natural variations | |||||||||
| Natural variant | 60 – 62 | 3 | Missing in PXE; autosomal recessive. | VAR_013363 | |||||
| Natural variant | 61 | 1 | G → D. Ref.13 | VAR_013364 | |||||
| Natural variant | 64 | 1 | R → W. Ref.1 Ref.3 Ref.9 | VAR_013365 | |||||
| Natural variant | 74 | 1 | Missing in PXE. Ref.18 | VAR_067840 | |||||
| Natural variant | 78 | 1 | A → T. Ref.19 Ref.22 | VAR_067841 | |||||
| Natural variant | 125 | 1 | E → K. Ref.19 Corresponds to variant rs3853814 [ dbSNP | Ensembl ]. | VAR_067842 | |||||
| Natural variant | 129 | 1 | G → E in PXE; autosomal recessive. Ref.19 | VAR_067843 | |||||
| Natural variant | 158 | 1 | A → V. Ref.19 | VAR_067844 | |||||
| Natural variant | 207 | 1 | G → R. Ref.13 | VAR_013366 | |||||
| Natural variant | 265 | 1 | R → G. Ref.13 Ref.14 Ref.19 Ref.22 Corresponds to variant rs78629019 [ dbSNP | Ensembl ]. | VAR_013367 | |||||
| Natural variant | 281 | 1 | K → E. Ref.13 Ref.19 Corresponds to variant rs4780606 [ dbSNP | Ensembl ]. | VAR_013368 | |||||
| Natural variant | 317 | 1 | S → R in PXE; autosomal recessive. Ref.19 Ref.20 Corresponds to variant rs78678589 [ dbSNP | Ensembl ]. | VAR_067845 | |||||
| Natural variant | 319 | 1 | I → V. Ref.13 Ref.19 Corresponds to variant rs72657699 [ dbSNP | Ensembl ]. | VAR_013369 | |||||
| Natural variant | 355 | 1 | L → R in GACI2 and PXE; autosomal recessive. Ref.19 Ref.24 Corresponds to variant rs72653758 [ dbSNP | Ensembl ]. | VAR_067846 | |||||
| Natural variant | 363 – 373 | 11 | Missing in PXE. | VAR_067847 | |||||
| Natural variant | 364 | 1 | T → R in PXE; autosomal recessive. Ref.14 Ref.17 Ref.19 Ref.20 | VAR_013370 | |||||
| Natural variant | 370 | 1 | N → D in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653760 [ dbSNP | Ensembl ]. | VAR_067848 | |||||
| Natural variant | 382 | 1 | R → W in PXE. Ref.20 Corresponds to variant rs72653761 [ dbSNP | Ensembl ]. | VAR_067849 | |||||
| Natural variant | 391 | 1 | R → G in GACI2 and PXE; autosomal recessive. Ref.18 Ref.19 Ref.20 Ref.24 Corresponds to variant rs72653762 [ dbSNP | Ensembl ]. | VAR_067850 | |||||
| Natural variant | 392 | 1 | K → N in PXE. Ref.20 | VAR_067851 | |||||
| Natural variant | 398 | 1 | S → G in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653764 [ dbSNP | Ensembl ]. | VAR_067852 | |||||
| Natural variant | 411 | 1 | N → K in PXE; autosomal dominant. Ref.13 Ref.17 Corresponds to variant rs9930886 [ dbSNP | Ensembl ]. | VAR_013371 | |||||
| Natural variant | 417 | 1 | V → M. Ref.22 | VAR_067853 | |||||
| Natural variant | 440 | 1 | C → G in PXE; autosomal recessive. Ref.17 Corresponds to variant rs72653766 [ dbSNP | Ensembl ]. | VAR_067854 | |||||
| Natural variant | 455 | 1 | A → P in PXE; autosomal dominant. Ref.6 Corresponds to variant rs67996819 [ dbSNP | Ensembl ]. | VAR_013372 | |||||
| Natural variant | 463 | 1 | L → H in PXE. Ref.20 Corresponds to variant rs72653767 [ dbSNP | Ensembl ]. | VAR_067855 | |||||
| Natural variant | 495 | 1 | L → H in PXE; autosomal recessive. Ref.19 Ref.20 Corresponds to variant rs72653769 [ dbSNP | Ensembl ]. | VAR_067856 | |||||
| Natural variant | 497 | 1 | N → K. Ref.13 Corresponds to variant rs72653770 [ dbSNP | Ensembl ]. | VAR_013373 | |||||
| Natural variant | 514 | 1 | V → I. Ref.19 Corresponds to variant rs59157279 [ dbSNP | Ensembl ]. | VAR_067857 | |||||
| Natural variant | 518 | 1 | R → Q in PXE; autosomal recessive. Ref.13 Ref.17 Ref.18 Ref.19 Ref.20 Ref.22 Corresponds to variant rs72653772 [ dbSNP | Ensembl ]. | VAR_013374 | |||||
| Natural variant | 535 | 1 | S → P in PXE. Ref.20 Corresponds to variant rs72653773 [ dbSNP | Ensembl ]. | VAR_067858 | |||||
| Natural variant | 551 | 1 | F → S in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653774 [ dbSNP | Ensembl ]. | VAR_067859 | |||||
| Natural variant | 568 | 1 | F → S in PXE; autosomal dominant. Ref.13 Ref.20 Corresponds to variant rs66864704 [ dbSNP | Ensembl ]. | VAR_013375 | |||||
| Natural variant | 590 | 1 | S → F in GACI2. Ref.24 | VAR_067860 | |||||
| Natural variant | 594 | 1 | A → V in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653776 [ dbSNP | Ensembl ]. | VAR_067861 | |||||
| Natural variant | 600 | 1 | R → C in PXE; autosomal recessive. Ref.17 Ref.20 Corresponds to variant rs72653777 [ dbSNP | Ensembl ]. | VAR_067862 | |||||
| Natural variant | 614 | 1 | V → A. Ref.11 Ref.13 Ref.15 Ref.19 Ref.22 Corresponds to variant rs12931472 [ dbSNP | Ensembl ]. | VAR_011490 | |||||
| Natural variant | 632 | 1 | H → Q. Ref.10 Ref.13 Ref.15 Ref.19 Ref.22 Corresponds to variant rs8058694 [ dbSNP | Ensembl ]. | VAR_013376 | |||||
| Natural variant | 663 | 1 | G → C in PXE. Ref.20 Corresponds to variant rs72653780 [ dbSNP | Ensembl ]. | VAR_067863 | |||||
| Natural variant | 665 | 1 | V → A. Corresponds to variant rs4341770 [ dbSNP | Ensembl ]. | VAR_055477 | |||||
| Natural variant | 673 | 1 | L → P in PXE; autosomal dominant. Ref.13 Corresponds to variant rs67470842 [ dbSNP | Ensembl ]. | VAR_013377 | |||||
| Natural variant | 677 | 1 | L → P in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653782 [ dbSNP | Ensembl ]. | VAR_067864 | |||||
| Natural variant | 698 | 1 | Q → P in PXE. Ref.20 Corresponds to variant rs72653783 [ dbSNP | Ensembl ]. | VAR_067865 | |||||
| Natural variant | 699 | 1 | E → D in PXE. Ref.20 Corresponds to variant rs72653784 [ dbSNP | Ensembl ]. | VAR_067866 | |||||
| Natural variant | 724 | 1 | R → K. Ref.19 Corresponds to variant rs58073789 [ dbSNP | Ensembl ]. | VAR_067867 | |||||
| Natural variant | 724 | 1 | R → L. Ref.22 | VAR_067868 | |||||
| Natural variant | 726 | 1 | L → P in PXE. Ref.20 Ref.22 Corresponds to variant rs72653785 [ dbSNP | Ensembl ]. | VAR_067869 | |||||
| Natural variant | 742 | 1 | I → V. Ref.19 Ref.22 Corresponds to variant rs59593133 [ dbSNP | Ensembl ]. | VAR_067870 | |||||
| Natural variant | 751 | 1 | M → K in PXE. Ref.20 Corresponds to variant rs72653786 [ dbSNP | Ensembl ]. | VAR_067871 | |||||
| Natural variant | 755 | 1 | G → R in PXE. Ref.20 Corresponds to variant rs72653787 [ dbSNP | Ensembl ]. | VAR_067872 | |||||
| Natural variant | 760 | 1 | R → W in PXE; autosomal recessive. Ref.19 Ref.20 Corresponds to variant rs72653788 [ dbSNP | Ensembl ]. | VAR_067873 | |||||
| Natural variant | 765 | 1 | R → Q in PXE; autosomal dominant and autosomal recessive. Ref.13 Ref.19 Ref.20 Ref.23 Corresponds to variant rs67561842 [ dbSNP | Ensembl ]. | VAR_013378 | |||||
| Natural variant | 766 | 1 | A → D in PXE; autosomal recessive. Ref.18 Corresponds to variant rs72653789 [ dbSNP | Ensembl ]. | VAR_067874 | |||||
| Natural variant | 777 | 1 | D → N in PXE. Ref.20 Corresponds to variant rs72653790 [ dbSNP | Ensembl ]. | VAR_067875 | |||||
| Natural variant | 807 | 1 | R → Q in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653794 [ dbSNP | Ensembl ]. | VAR_067876 | |||||
| Natural variant | 807 | 1 | R → W in PXE; autosomal recessive. Ref.19 Corresponds to variant rs72653793 [ dbSNP | Ensembl ]. | VAR_067877 | |||||
| Natural variant | 810 | 1 | V → M in PXE; autosomal recessive. Ref.17 Corresponds to variant rs72653795 [ dbSNP | Ensembl ]. | VAR_067878 | |||||
| Natural variant | 811 | 1 | T → M in PXE. Ref.20 Corresponds to variant rs72653796 [ dbSNP | Ensembl ]. | VAR_067879 | |||||
| Natural variant | 820 | 1 | A → P in PXE; autosomal recessive. Ref.17 Corresponds to variant rs72653797 [ dbSNP | Ensembl ]. | VAR_067880 | |||||
| Natural variant | 848 | 1 | M → V. Ref.1 Ref.3 Ref.4 Ref.22 Corresponds to variant rs6416668 [ dbSNP | Ensembl ]. | VAR_059108 | |||||
| Natural variant | 881 | 1 | R → S in PXE. Ref.20 Corresponds to variant rs72653800 [ dbSNP | Ensembl ]. | VAR_067881 | |||||
| Natural variant | 944 | 1 | T → I in PXE. Ref.20 Corresponds to variant rs72653801 [ dbSNP | Ensembl ]. | VAR_067882 | |||||
| Natural variant | 946 | 1 | L → I. Ref.19 Ref.22 Corresponds to variant rs61340537 [ dbSNP | Ensembl ]. | VAR_067883 | |||||
| Natural variant | 950 | 1 | A → T in PXE. Ref.20 Corresponds to variant rs72657689 [ dbSNP | Ensembl ]. | VAR_067884 | |||||
| Natural variant | 953 | 1 | L → H. Ref.13 Corresponds to variant rs72657700 [ dbSNP | Ensembl ]. | VAR_013379 | |||||
| Natural variant | 992 | 1 | G → R in PXE. Ref.20 Corresponds to variant rs72657692 [ dbSNP | Ensembl ]. | VAR_067885 | |||||
| Natural variant | 1036 | 1 | Missing in GACI2 and PXE; autosomal recessive. Ref.19 Ref.24 | VAR_067886 | |||||
| Natural variant | 1048 | 1 | Missing in PXE; autosomal recessive. Ref.19 | VAR_067887 | |||||
| Natural variant | 1056 | 1 | D → E in PXE. Ref.19 Corresponds to variant rs72657694 [ dbSNP | Ensembl ]. | VAR_067888 | |||||
| Natural variant | 1064 | 1 | R → W. Ref.19 Corresponds to variant rs41278174 [ dbSNP | Ensembl ]. | VAR_067889 | |||||
| Natural variant | 1097 | 1 | L → I. Corresponds to variant rs60707953 [ dbSNP | Ensembl ]. | VAR_060988 | |||||
| Natural variant | 1114 | 1 | R → C in GACI2 and PXE; autosomal recessive. Ref.17 Ref.19 Ref.20 Ref.24 Corresponds to variant rs63749794 [ dbSNP | Ensembl ]. | VAR_067890 | |||||
| Natural variant | 1114 | 1 | R → P in PXE; autosomal recessive. Ref.11 Ref.13 | VAR_011491 | |||||
| Natural variant | 1121 | 1 | S → L in PXE. Ref.19 | VAR_067891 | |||||
| Natural variant | 1121 | 1 | S → W in PXE; autosomal dominant. Ref.13 | VAR_013380 | |||||
| Natural variant | 1130 | 1 | T → M in PXE; autosomal recessive. Ref.17 Ref.18 Ref.20 Corresponds to variant rs63750459 [ dbSNP | Ensembl ]. | VAR_067892 | |||||
| Natural variant | 1133 | 1 | G → A in PXE. Ref.20 Corresponds to variant rs63750473 [ dbSNP | Ensembl ]. | VAR_067893 | |||||
| Natural variant | 1138 | 1 | R → P in PXE; autosomal dominant. Ref.13 | VAR_013381 | |||||
| Natural variant | 1138 | 1 | R → Q in PXE; autosomal recessive. Ref.11 Ref.13 Ref.17 Ref.18 Ref.19 Ref.20 Ref.22 Corresponds to variant rs60791294 [ dbSNP | Ensembl ]. | VAR_011492 | |||||
| Natural variant | 1138 | 1 | R → W in PXE; autosomal recessive. Ref.12 Ref.19 Ref.20 Corresponds to variant rs28939701 [ dbSNP | Ensembl ]. | VAR_011493 | |||||
| Natural variant | 1139 | 1 | A → T in PXE. Ref.20 Corresponds to variant rs63750146 [ dbSNP | Ensembl ]. | VAR_067894 | |||||
| Natural variant | 1164 | 1 | R → Q in PXE; autosomal recessive. Ref.19 Ref.20 Corresponds to variant rs63750457 [ dbSNP | Ensembl ]. | VAR_067895 | |||||
| Natural variant | 1203 | 1 | G → D in PXE; autosomal dominant. Ref.13 Corresponds to variant rs63750607 [ dbSNP | Ensembl ]. | VAR_013382 | |||||
| Natural variant | 1221 | 1 | R → C in PXE; autosomal recessive. Ref.19 Ref.20 Corresponds to variant rs63751215 [ dbSNP | Ensembl ]. | VAR_067896 | |||||
| Natural variant | 1221 | 1 | R → H in GACI2. Ref.20 Ref.24 Corresponds to variant rs63751001 [ dbSNP | Ensembl ]. | VAR_067897 | |||||
| Natural variant | 1226 | 1 | L → I in PXE. Ref.20 Corresponds to variant rs63750125 [ dbSNP | Ensembl ]. | VAR_067898 | |||||
| Natural variant | 1235 | 1 | R → W in PXE; autosomal recessive. Ref.19 Corresponds to variant rs63750402 [ dbSNP | Ensembl ]. | VAR_067899 | |||||
| Natural variant | 1238 | 1 | D → H in PXE; pseudodominant. Ref.18 Corresponds to variant rs63749796 [ dbSNP | Ensembl ]. | VAR_067900 | |||||
| Natural variant | 1241 | 1 | W → C. Ref.13 Corresponds to variant rs72657701 [ dbSNP | Ensembl ]. | VAR_013383 | |||||
| Natural variant | 1268 | 1 | R → Q Associated with lower plasma triglycerides and higher plasma HDL cholesterol. Ref.8 Ref.12 Ref.13 Ref.15 Ref.19 Ref.21 Corresponds to variant rs2238472 [ dbSNP | Ensembl ]. | VAR_011494 | |||||
| Natural variant | 1298 | 1 | V → F in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Ref.5 Ref.13 Ref.20 | VAR_013384 | |||||
| Natural variant | 1301 | 1 | T → I in PXE; autosomal dominant. Ref.13 Corresponds to variant rs63750494 [ dbSNP | Ensembl ]. | VAR_013385 | |||||
| Natural variant | 1302 | 1 | G → R in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport. Ref.5 Ref.13 Ref.19 Ref.20 Ref.22 Corresponds to variant rs63749856 [ dbSNP | Ensembl ]. | VAR_013386 | |||||
| Natural variant | 1303 | 1 | A → P in PXE; autosomal dominant and autosomal recessive. Ref.13 Ref.19 Ref.20 | VAR_013387 | |||||
| Natural variant | 1314 | 1 | R → Q in PXE; autosomal dominant and autosomal recessive. Ref.13 Ref.19 Ref.20 | VAR_013388 | |||||
| Natural variant | 1314 | 1 | R → W in GACI2 and PXE; autosomal recessive. Ref.11 Ref.13 Ref.20 Ref.24 Corresponds to variant rs63750759 [ dbSNP | Ensembl ]. | VAR_011495 | |||||
| Natural variant | 1321 | 1 | G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Ref.5 Ref.13 Corresponds to variant rs63749823 [ dbSNP | Ensembl ]. | VAR_013389 | |||||
| Natural variant | 1335 | 1 | L → P in PXE; autosomal recessive. Ref.18 Ref.22 | VAR_067901 | |||||
| Natural variant | 1335 | 1 | L → Q in PXE. Ref.20 Corresponds to variant rs63750414 [ dbSNP | Ensembl ]. | VAR_067902 | |||||
| Natural variant | 1339 | 1 | R → C in PXE; autosomal recessive. Ref.10 Ref.13 Ref.17 Ref.19 Ref.20 Ref.22 Corresponds to variant rs28939702 [ dbSNP | Ensembl ]. | VAR_013390 | |||||
| Natural variant | 1339 | 1 | R → H in PXE; autosomal recessive. Ref.20 Corresponds to variant rs63750622 [ dbSNP | Ensembl ]. | VAR_067904 | |||||
| Natural variant | 1339 | 1 | R → L in PXE; autosomal recessive. Ref.19 | VAR_067903 | |||||
| Natural variant | 1346 | 1 | P → S in PXE; autosomal recessive. Ref.17 Corresponds to variant rs63751112 [ dbSNP | Ensembl ]. | VAR_067905 | |||||
| Natural variant | 1347 | 1 | Q → H in PXE; autosomal dominant. Ref.13 Corresponds to variant rs67720869 [ dbSNP | Ensembl ]. | VAR_013391 | |||||
| Natural variant | 1354 | 1 | G → R in PXE; autosomal recessive. Ref.14 Corresponds to variant rs63750018 [ dbSNP | Ensembl ]. | VAR_013392 | |||||
| Natural variant | 1357 | 1 | R → W in PXE; autosomal recessive. Ref.19 Corresponds to variant rs63750428 [ dbSNP | Ensembl ]. | VAR_067906 | |||||
| Natural variant | 1361 | 1 | D → N in PXE; autosomal dominant. Ref.13 Corresponds to variant rs58695352 [ dbSNP | Ensembl ]. | VAR_013393 | |||||
| Natural variant | 1400 | 1 | E → K in PXE; autosomal recessive. Ref.17 Ref.18 Corresponds to variant rs63751241 [ dbSNP | Ensembl ]. | VAR_067907 | |||||
| Natural variant | 1406 | 1 | Q → K in PXE; autosomal recessive. Ref.23 | VAR_067908 | |||||
| Natural variant | 1424 | 1 | I → T in PXE; autosomal dominant. Ref.13 Corresponds to variant rs63750295 [ dbSNP | Ensembl ]. | VAR_013394 | |||||
| Natural variant | 1459 | 1 | R → C in PXE; putative autosomal dominant. Ref.16 Corresponds to variant rs72547524 [ dbSNP | Ensembl ]. | VAR_067909 | |||||
Experimental info | |||||||||
| Sequence conflict | 377 | 1 | L → P in AAD51293. Ref.4 | ||||||
| Sequence conflict | 1274 | 1 | Y → C in AAD51293. Ref.4 | ||||||
| Sequence conflict | 1455 | 1 | L → P in AAD51293. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells." Kool M., van der Linden M., de Haas M., Baas F., Borst P. Cancer Res. 59:175-182(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS TRP-64 AND VAL-848. |
| [2] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS TRP-64 AND VAL-848. |
| [4] | "MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver." Belinsky M.G., Kruh G.D. Br. J. Cancer 80:1342-1349(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-848. |
| [5] | "Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)." Ilias A., Urban Z., Seidl T.L., Le Saux O., Sinko E., Boyd C.D., Sarkadi B., Varadi A. J. Biol. Chem. 277:16860-16867(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS PXE PHE-1298; ARG-1302 AND SER-1321. |
| [6] | "Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?" Uitto J., Pulkkinen L., Ringpfeil F. Trends Mol. Med. 7:13-17(2001) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW, VARIANT PXE PRO-455. |
| [7] | "Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells." Sinko E., Ilias A., Ujhelly O., Homolya L., Scheffer G.L., Bergen A.A., Sarkadi B., Varadi A. Biochem. Biophys. Res. Commun. 308:263-269(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION AT ASN-15. |
| [8] | "Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing." Germain D.P., Perdu J., Remones V., Jeunemaitre X. Biochem. Biophys. Res. Commun. 274:297-301(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLN-1268. |
| [9] | "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?" Germain D.P., Perdu J., Remones V., Manzoni K., Jeunemaitre X. Hum. Mutat. 16:449-449(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TRP-64. |
| [10] | "Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum." Struk B., Cai L., Zaech S., Ji W., Chung J., Lumsden A., Stumm M., Huber M., Schaen L., Kim C.-A., Goldsmith L.A., Viljoen D., Figuera L.E., Fuchs W., Munier F., Ramesar R., Hohl D., Richards R., Neldner K.H., Lindpaintner K. J. Mol. Med. 78:282-286(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PXE CYS-1339, VARIANT GLN-632. |
| [11] | "Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum." Le Saux O., Urban Z., Tschuch C., Csiszar K., Bacchelli B., Quaglino D., Pasquali-Ronchetti I., Pope F.M., Richards A., Terry S., Bercovitch L., de Paepe A., Boyd C.D. Nat. Genet. 25:223-227(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE PRO-1114; GLN-1138 AND TRP-1314, VARIANT ALA-614. |
| [12] | "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter." Ringpfeil F., Lebwohl M.G., Christiano A.M., Uitto J. Proc. Natl. Acad. Sci. U.S.A. 97:6001-6006(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PXE TRP-1138, VARIANT GLN-1268. |
| [13] | "A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum." Le Saux O., Beck K., Sachsinger C., Silvestri C., Treiber C., Goering H.H.H., Johnson E.W., De Paepe A., Pope F.M., Pasquali-Ronchetti I., Bercovitch L., Terry S., Boyd C.D. Am. J. Hum. Genet. 69:749-764(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE LYS-411; GLN-518; SER-568; PRO-673; GLN-765; PRO-1114; TRP-1121; PRO-1138; GLN-1138; ASP-1203; PHE-1298; ILE-1301; ARG-1302; PRO-1303; GLN-1314; TRP-1314; SER-1321; CYS-1339; HIS-1347; ASN-1361 AND THR-1424, VARIANTS ASP-61; ARG-207; GLY-265; GLU-281; VAL-319; LYS-497; ALA-614; GLN-632; HIS-953; CYS-1241 AND GLN-1268. |
| [14] | "Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum." Pulkkinen L., Nakano A., Ringpfeil F., Uitto J. Hum. Genet. 109:356-365(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-364 AND ARG-1354, VARIANT GLY-265. |
| [15] | "ABCC6 gene polymorphism associated with variation in plasma lipoproteins." Wang J., Near S., Young K., Connelly P.W., Hegele R.A. J. Hum. Genet. 46:699-705(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-614; GLN-632 AND GLN-1268. |
| [16] | "Does autosomal dominant pseudoxanthoma elasticum exist?" Plomp A.S., Hu X., de Jong P.T., Bergen A.A. Am. J. Med. Genet. A 126:403-412(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PXE CYS-1459. |
| [17] | "ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)." Gheduzzi D., Guidetti R., Anzivino C., Tarugi P., Di Leo E., Quaglino D., Ronchetti I.P. Hum. Mutat. 24:438-439(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE ARG-364; LYS-411; GLY-440; GLN-518; CYS-600; MET-810; PRO-820; CYS-1114; MET-1130; GLN-1138; CYS-1339; SER-1346 AND LYS-1400. |
| [18] | "Novel ABCC6 mutations in pseudoxanthoma elasticum." Chassaing N., Martin L., Mazereeuw J., Barrie L., Nizard S., Bonafe J.L., Calvas P., Hovnanian A. J. Invest. Dermatol. 122:608-613(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE VAL-74 DEL; 363-GLN--ARG-373 DEL; GLY-391; GLN-518; ASP-766; MET-1130; GLN-1138 HIS-1238; PRO-1335 AND LYS-1400. |
| [19] | "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6." Miksch S., Lumsden A., Guenther U.P., Foernzler D., Christen-Zach S., Daugherty C., Ramesar R.K., Lebwohl M., Hohl D., Neldner K.H., Lindpaintner K., Richards R.I., Struk B. Hum. Mutat. 26:235-248(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; GLU-129; ARG-317; ARG-355; ARG-364; ASP-370; GLY-391; GLY-398; HIS-495; GLN-518; SER-551; VAL-594; PRO-677; TRP-760; GLN-765; GLN-807; TRP-807; GLU-1056; PHE-1036 DEL; PHE-1048 DEL; CYS-1114; LEU-1121; GLN-1138; TRP-1138; GLN-1164; CYS-1221; TRP-1235; ARG-1302; PRO-1303; GLN-1314; CYS-1339; LEU-1339 AND TRP-1357, VARIANTS THR-78; LYS-125; VAL-158; GLY-265; GLU-281; VAL-319; ILE-514; ALA-614; GLN-632; LYS-724; VAL-742; ILE-946; TRP-1064 AND GLN-1268. |
| [20] | "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum." Pfendner E.G., Vanakker O.M., Terry S.F., Vourthis S., McAndrew P.E., McClain M.R., Fratta S., Marais A.S., Hariri S., Coucke P.J., Ramsay M., Viljoen D., Terry P.F., De Paepe A., Uitto J., Bercovitch L.G. J. Med. Genet. 44:621-628(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-317; ARG-364; TRP-382; GLY-391; ASN-392; HIS-463 HIS-495; GLN-518; PRO-535; SER-568; CYS-600; CYS-663; PRO-698; ASP-699; PRO-726; LYS-751; ARG-755; TRP-760; GLN-765; ASN-777; MET-811; SER-881; ILE-944; THR-950; ARG-992; CYS-1114; MET-1130; ALA-1133; GLN-1138; TRP-1138; THR-1139; GLN-1164; CYS-1221; HIS-1221; ILE-1226; PHE-1298; ARG-1302; PRO-1303; GLN-1314; TRP-1314; GLN-1335; CYS-1339; HIS-1339 AND THR-1342. |
| [21] | "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome." Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. Wilson R.K.Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-1268. |
| [22] | "Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals." Ramsay M., Greenberg T., Lombard Z., Labrum R., Lubbe S., Aron S., Marais A.S., Terry S., Bercovitch L., Viljoen D. J. Dermatol. Sci. 54:198-204(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE GLN-518; PRO-726; GLN-1138; ARG-1302; PRO-1335 AND CYS-1339, VARIANTS THR-78; GLY-265; MET-417; ALA-614; GLN-632; LEU-724; VAL-742; VAL-848 AND ILE-946. |
| [23] | "An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy." Le Boulanger G., Labreze C., Croue A., Schurgers L.J., Chassaing N., Wittkampf T., Rutsch F., Martin L. Am. J. Med. Genet. A 152:118-123(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PXE GLN-765 AND LYS-1406. |
| [24] | "Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6." Nitschke Y., Baujat G., Botschen U., Wittkampf T., du Moulin M., Stella J., Le Merrer M., Guest G., Lambot K., Tazarourte-Pinturier M.F., Chassaing N., Roche O., Feenstra I., Loechner K., Deshpande C., Garber S.J., Chikarmane R., Steinmann B. Rutsch F.Am. J. Hum. Genet. 90:25-39(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GACI2 ARG-355; GLY-391; PHE-590; PHE-1036 DEL; CYS-1114; HIS-1221 AND TRP-1314. |
| + | Additional computationally mapped references. |
Web resources
| Mutations of the ABCC6 gene Retina International's Scientific Newsletter |
| GeneReviews |
| ABCMdb Database for mutations in ABC proteins |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF076622 mRNA. Translation: AAC79696.1. AC136624 Genomic DNA. No translation available. U91318 Genomic DNA. Translation: AAC15785.1. Sequence problems. AF168791 mRNA. Translation: AAD51293.1. |
| IPI | IPI00029455. |
| RefSeq | NP_001162.4. NM_001171.5. |
| UniGene | Hs.442182. |
3D structure databases | |
| ProteinModelPortal | O95255. |
| SMR | O95255. Positions 627-847. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O95255. 5 interactions. |
| STRING | 9606.ENSP00000205557. |
Protein family/group databases | |
| TCDB | 3.A.1.208.10. ATP-binding cassette (ABC) superfamily. |
PTM databases | |
| PhosphoSite | O95255. |
Proteomic databases | |
| PaxDb | O95255. |
| PRIDE | O95255. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000205557; ENSP00000205557; ENSG00000091262. |
| GeneID | 368. |
| KEGG | hsa:368. |
| UCSC | uc002den.4. human. |
Organism-specific databases | |
| CTD | 368. |
| GeneCards | GC16M016243. |
| H-InvDB | HIX0026937. HIX0038600. |
| HGNC | HGNC:57. ABCC6. |
| MIM | 177850. phenotype. 264800. phenotype. 603234. gene. 614473. phenotype. |
| neXtProt | NX_O95255. |
| Orphanet | 51608. Generalized arterial calcification of infancy. 758. Pseudoxanthoma elasticum. |
| PharmGKB | PA58. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1132. |
| HOVERGEN | HBG108314. |
| InParanoid | O95255. |
| KO | K05669. |
| OMA | KVLQMRL. |
| OrthoDB | EOG4868BN. |
| PhylomeDB | O95255. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | O95255. |
| Bgee | O95255. |
| CleanEx | HS_ABCC6. |
| Genevestigator | O95255. |
| GermOnline | ENSG00000091262. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR001140. ABC_transptr_TM_dom. IPR011527. ABC_transptrTM_dom_typ1. IPR005292. Multidrug-R_assoc. IPR027417. P-loop_NTPase. [Graphical view] |
| Pfam | PF00664. ABC_membrane. 2 hits. PF00005. ABC_tran. 2 hits. [Graphical view] |
| SMART | SM00382. AAA. 2 hits. [Graphical view] |
| SUPFAM | SSF90123. ABC_TM_1. 2 hits. SSF52540. SSF52540. 2 hits. |
| TIGRFAMs | TIGR00957. MRP_assoc_pro. 1 hit. |
| PROSITE | PS50929. ABC_TM1F. 2 hits. PS00211. ABC_TRANSPORTER_1. 2 hits. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ABCC6. human. |
| GenomeRNAi | 368. |
| NextBio | 1537. |
| SOURCE | Search... |
Entry information
| Entry name | MRP6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95255 Secondary accession number(s): P78420, Q9UMZ7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
