O95255 (MRP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names 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

Name:	ABCC6
Synonyms:	ARA, MRP6

Organism

Homo sapiens (Human)

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	Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE) [MIM:264800]. PXE is a disorder characterized by calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration. PXE is caused in the overwhelming majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomal recessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype (autosomal dominant PXE). Ref.5 Ref.6 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16
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

Keywords
Biological process	Sensory transduction Transport Vision
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	response to drug Traceable author statement. Source: ProtInc visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: ProtInc
Molecular function	ATP binding Traceable author statement. Source: ProtInc ATPase activity, coupled to transmembrane movement of substances Traceable author statement. Source: ProtInc
Complete GO annotation...

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	681	1	Phosphoserine Ref.9
	Modified residue	902	1	Phosphoserine Ref.8
	Modified residue	1310	1	Phosphoserine Ref.9
	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.15		VAR_013364
	Natural variant	64	1	R → W. Ref.1 Ref.3 Ref.11		VAR_013365
	Natural variant	207	1	G → R. Ref.15		VAR_013366
	Natural variant	265	1	R → G. Ref.15 Ref.16		VAR_013367
	Natural variant	281	1	K → E. Ref.15 Corresponds to variant rs4780606 [ dbSNP | Ensembl ].		VAR_013368
	Natural variant	319	1	I → V. Ref.15		VAR_013369
	Natural variant	364	1	T → R in PXE; autosomal recessive. Ref.16		VAR_013370
	Natural variant	411	1	N → K in PXE; autosomal dominant. Ref.15		VAR_013371
	Natural variant	455	1	A → P in PXE; autosomal dominant. Ref.6		VAR_013372
	Natural variant	497	1	N → K. Ref.15		VAR_013373
	Natural variant	518	1	R → Q in PXE. Ref.15		VAR_013374
	Natural variant	568	1	F → S in PXE; autosomal dominant. Ref.15		VAR_013375
	Natural variant	614	1	V → A. Ref.13 Ref.15 Ref.17 Corresponds to variant rs12931472 [ dbSNP | Ensembl ].		VAR_011490
	Natural variant	632	1	H → Q. Ref.12 Ref.15 Ref.17 Corresponds to variant rs8058694 [ dbSNP | Ensembl ].		VAR_013376
	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.15		VAR_013377
	Natural variant	765	1	R → Q in PXE; autosomal dominant. Ref.15		VAR_013378
	Natural variant	848	1	M → V. Ref.1 Ref.3 Ref.4 Corresponds to variant rs6416668 [ dbSNP | Ensembl ].		VAR_059108
	Natural variant	953	1	L → H. Ref.15		VAR_013379
	Natural variant	1097	1	L → I. Corresponds to variant rs60707953 [ dbSNP | Ensembl ].		VAR_060988
	Natural variant	1114	1	R → P in PXE; autosomal recessive. Ref.13 Ref.15		VAR_011491
	Natural variant	1121	1	S → W in PXE; autosomal dominant. Ref.15		VAR_013380
	Natural variant	1138	1	R → P in PXE; autosomal dominant. Ref.15		VAR_013381
	Natural variant	1138	1	R → Q in PXE; autosomal recessive. Ref.13 Ref.15 Corresponds to variant rs60791294 [ dbSNP | Ensembl ].		VAR_011492
	Natural variant	1138	1	R → W in PXE; autosomal recessive. Ref.14 Corresponds to variant rs28939701 [ dbSNP | Ensembl ].		VAR_011493
	Natural variant	1203	1	G → D in PXE; autosomal dominant. Ref.15		VAR_013382
	Natural variant	1241	1	W → C. Ref.15		VAR_013383
	Natural variant	1268	1	R → Q Associated with lower plasma triglycerides and higher plasma HDL cholesterol. Ref.10 Ref.14 Ref.15 Ref.17 Ref.18 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.15		VAR_013384
	Natural variant	1301	1	T → I in PXE; autosomal dominant. Ref.15		VAR_013385
	Natural variant	1302	1	G → R in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Ref.5 Ref.15		VAR_013386
	Natural variant	1303	1	A → P in PXE; autosomal dominant. Ref.15		VAR_013387
	Natural variant	1314	1	R → Q in PXE; autosomal dominant. Ref.15		VAR_013388
	Natural variant	1314	1	R → W in PXE; autosomal recessive. Ref.13 Ref.15		VAR_011495
	Natural variant	1321	1	G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Ref.5 Ref.15		VAR_013389
	Natural variant	1339	1	R → C in PXE; autosomal recessive. Ref.12 Ref.15 Corresponds to variant rs28939702 [ dbSNP | Ensembl ].		VAR_013390
	Natural variant	1347	1	Q → H in PXE; autosomal dominant. Ref.15		VAR_013391
	Natural variant	1354	1	G → R in PXE; autosomal recessive. Ref.16		VAR_013392
	Natural variant	1361	1	D → N in PXE; autosomal dominant. Ref.15 Corresponds to variant rs58695352 [ dbSNP | Ensembl ].		VAR_013393
	Natural variant	1424	1	I → T in PXE; autosomal dominant. Ref.15		VAR_013394
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

	Sequence		Length	Mass (Da)
	O95255 [UniParc]. Last modified November 24, 2009. Version 2. Checksum: 2107BE13B1547B39	FASTA	1,503	164,906
	10 20 30 40 50 60 MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI YLLFIHHHGR 70 80 90 100 110 120 GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE APEFLIHPTV WLTTMSFAVF 130 140 150 160 170 180 LIHTERKKGV QSSGVLFGYW LLCFVLPATN AAQQASGAGF QSDPVRHLST YLCLSLVVAQ 190 200 210 220 230 240 FVLSCLADQP PFFPEDPQQS NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG 250 260 270 280 290 300 RENSSEELVS RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL 310 320 330 340 350 360 KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY LLAVLMFLSA 370 380 390 400 410 420 CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS RKASAVGDVV NLVSVDVQRL 430 440 450 460 470 480 TESVLYLNGL WLPLVWIVVC FVYLWQLLGP SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ 490 500 510 520 530 540 MRQKDSRARL TSSILRNSKT IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ 550 560 570 580 590 600 VSTFLVALVV FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR 610 620 630 640 650 660 LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN LTVPQGCLLA 670 680 690 700 710 720 VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA WVQNTSVVEN VCFGQELDPP 730 740 750 760 770 780 WLERVLEACA LQPDVDSFPE GIHTSIGEQG MNLSGGQKQR LSLARAVYRK AAVYLLDDPL 790 800 810 820 830 840 AALDAHVGQH VFNQVIGPGG LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL 850 860 870 880 890 900 LQRKGALMCL LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT 910 920 930 940 950 960 TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA LFLFLCQQVA 970 980 990 1000 1010 1020 SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI GLFASMAAVL LGGARASRLL 1030 1040 1050 1060 1070 1080 FQRLLWDVVR SPISFFERTP IGHLLNRFSK ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV 1090 1100 1110 1120 1130 1140 AVATPLATVA ILPLFLLYAG FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF 1150 1160 1170 1180 1190 1200 RTQAPFVAQN NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG 1210 1220 1230 1240 1250 1260 LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL PTCAAQPPWP 1270 1280 1290 1300 1310 1320 QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR TGAGKSSLAS GLLRLQEAAE 1330 1340 1350 1360 1370 1380 GGIWIDGVPI AHVGLHTLRS RISIIPQDPI LFPGSLRMNL DLLQEHSDEA IWAALETVQL 1390 1400 1410 1420 1430 1440 KALVASLPGQ LQYKCADRGE DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM 1450 1460 1470 1480 1490 1500 QAMLGSWFAQ CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES GLV

References

	« Hide 'large scale' referencesShow '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: 9892204] [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. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed: 15616553] [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: 10493829] [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: 10424734] [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: 11880368] [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: 11427982] [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: 12901863] [Abstract] Cited for: SUBCELLULAR LOCATION, TOPOLOGY, GLYCOSYLATION AT ASN-15.
[8]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-902, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-681 AND SER-1310, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[10]	"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: 10913334] [Abstract] Cited for: VARIANT GLN-1268.
[11]	"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: 11058917] [Abstract] Cited for: VARIANT TRP-64.
[12]	"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: 10954200] [Abstract] Cited for: VARIANT PXE CYS-1339, VARIANT GLN-632.
[13]	"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: 10835642] [Abstract] Cited for: VARIANTS PXE PRO-1114; GLN-1138 AND TRP-1314, VARIANT ALA-614.
[14]	"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: 10811882] [Abstract] Cited for: VARIANT PXE TRP-1138, VARIANT GLN-1268.
[15]	"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: 11536079] [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.
[16]	"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: 11702217] [Abstract] Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-364 AND ARG-1354, VARIANT GLY-265.
[17]	"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: 11776382] [Abstract] Cited for: VARIANTS ALA-614; GLN-632 AND GLN-1268.
[18]	"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. , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K. Nature 456:66-72(2008) [PubMed: 18987736] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-1268.
+	Additional computationally mapped references.

Web resources

Mutations of the ABCC6 gene

Retina International's Scientific Newsletter

GeneReviews

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 595-854, 933-1500.
ModBase	Search...
Protein-protein interaction databases
IntAct	O95255. 5 interactions.
STRING	O95255.
Protein family/group databases
TCDB	3.A.1.208.10. ATP-binding cassette (ABC) superfamily.
PTM databases
PhosphoSite	O95255.
Proteomic databases
PRIDE	O95255.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000205557; ENSP00000205557; ENSG00000091262.
GeneID	368.
KEGG	hsa:368.
Organism-specific databases
CTD	368.
GeneCards	GC16M016243.
H-InvDB	HIX0026937.
HGNC	HGNC:57. ABCC6.
MIM	177850. phenotype. 264800. phenotype. 603234. gene.
neXtProt	NX_O95255.
Orphanet	758. Pseudoxanthoma elasticum.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00580000081370.
HOGENOM	HBG758042.
HOVERGEN	HBG108314.
InParanoid	O95255.
OMA	HQEEQMR.
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	IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR001140. ABC_transptr_TM_dom. IPR011527. ABC_transptrTM_dom_typ1. IPR003593. ATPase_AAA+_core. IPR005292. Multidrug-R_assoc. [Graphical view]
KO	K05669.
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.
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
SOURCE	Search...

Entry information

Entry name

MRP6_HUMAN

Accession

Primary (citable) accession number: O95255
Secondary accession number(s): P78420, Q9UMZ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 24, 2009
Last modified:	January 25, 2012
This is version 129 of the entry and version 2 of the sequence. [Complete 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.