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O95255 (MRP6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 152. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1503 AA.
Sequence statusComplete.
Protein existenceEvidence 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.7

Subcellular location

Basolateral cell membrane; Multi-pass membrane protein Ref.9 Ref.10.

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.
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. Ref.7 Ref.8 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26

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. Ref.27

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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95255-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O95255-2)

The sequence of this isoform differs from the canonical sequence as follows:
     75-99: LGFALIVLCTSSVAVALWKIQQGTP → AAIPGSLEPGNVRGRQGTGWNLVKS
     100-1503: Missing.
Note: Gene prediction based on EST data. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15031503Multidrug resistance-associated protein 6
PRO_0000093366

Regions

Topological domain1 – 3131Extracellular By similarity
Transmembrane32 – 5221Helical; Name=1; By similarity
Topological domain53 – 7220Cytoplasmic By similarity
Transmembrane73 – 9321Helical; Name=2; By similarity
Topological domain94 – 985Extracellular By similarity
Transmembrane99 – 11921Helical; Name=3; By similarity
Topological domain120 – 13112Cytoplasmic By similarity
Transmembrane132 – 14918Helical; Name=4; By similarity
Topological domain150 – 16718Extracellular By similarity
Transmembrane168 – 18821Helical; Name=5; By similarity
Topological domain189 – 302114Cytoplasmic By similarity
Transmembrane303 – 32321Helical; Name=6; By similarity
Topological domain324 – 34926Extracellular By similarity
Transmembrane350 – 37021Helical; Name=7; By similarity
Topological domain371 – 42656Cytoplasmic By similarity
Transmembrane427 – 44721Helical; Name=8; By similarity
Topological domain448 – 4503Extracellular By similarity
Transmembrane451 – 47121Helical; Name=9; By similarity
Topological domain472 – 53362Cytoplasmic By similarity
Transmembrane534 – 55421Helical; Name=10; By similarity
Topological domain555 – 57521Extracellular By similarity
Transmembrane576 – 59621Helical; Name=11; By similarity
Topological domain597 – 939343Cytoplasmic By similarity
Transmembrane940 – 96021Helical; Name=12; By similarity
Topological domain961 – 99737Extracellular By similarity
Transmembrane998 – 101821Helical; Name=13; By similarity
Topological domain1019 – 106143Cytoplasmic By similarity
Transmembrane1062 – 108221Helical; Name=14; By similarity
Topological domain10831Extracellular By similarity
Transmembrane1084 – 110421Helical; Name=15; By similarity
Topological domain1105 – 117571Cytoplasmic By similarity
Transmembrane1176 – 119621Helical; Name=16; By similarity
Topological domain1197 – 11982Extracellular By similarity
Transmembrane1199 – 121921Helical; Name=17; By similarity
Topological domain1220 – 1503284Cytoplasmic By similarity
Domain311 – 593283ABC transmembrane type-1 1
Domain629 – 853225ABC transporter 1
Domain947 – 1228282ABC transmembrane type-1 2
Domain1265 – 1499235ABC transporter 2
Nucleotide binding663 – 6708ATP 1 Potential
Nucleotide binding1299 – 13068ATP 2 Potential

Amino acid modifications

Glycosylation151N-linked (GlcNAc...) Probable

Natural variations

Alternative sequence75 – 9925LGFAL…QQGTP → AAIPGSLEPGNVRGRQGTGW NLVKS in isoform 2.
VSP_047315
Alternative sequence100 – 15031404Missing in isoform 2.
VSP_047316
Natural variant60 – 623Missing in PXE; autosomal recessive.
VAR_013363
Natural variant611G → D. Ref.16
VAR_013364
Natural variant641R → W. Ref.2 Ref.4 Ref.12
VAR_013365
Natural variant741Missing in PXE. Ref.21
VAR_067840
Natural variant781A → T. Ref.22 Ref.25
VAR_067841
Natural variant1251E → K. Ref.22
Corresponds to variant rs3853814 [ dbSNP | Ensembl ].
VAR_067842
Natural variant1291G → E in PXE; autosomal recessive. Ref.22
VAR_067843
Natural variant1581A → V. Ref.22
VAR_067844
Natural variant2071G → R. Ref.16
VAR_013366
Natural variant2651R → G. Ref.16 Ref.17 Ref.22 Ref.25
Corresponds to variant rs78629019 [ dbSNP | Ensembl ].
VAR_013367
Natural variant2811K → E. Ref.16 Ref.22
Corresponds to variant rs4780606 [ dbSNP | Ensembl ].
VAR_013368
Natural variant3171S → R in PXE; autosomal recessive. Ref.22 Ref.23
Corresponds to variant rs78678589 [ dbSNP | Ensembl ].
VAR_067845
Natural variant3191I → V. Ref.16 Ref.22
Corresponds to variant rs72657699 [ dbSNP | Ensembl ].
VAR_013369
Natural variant3551L → R in GACI2 and PXE; autosomal recessive. Ref.22 Ref.27
Corresponds to variant rs72653758 [ dbSNP | Ensembl ].
VAR_067846
Natural variant363 – 37311Missing in PXE.
VAR_067847
Natural variant3641T → R in PXE; autosomal recessive. Ref.17 Ref.20 Ref.22 Ref.23
VAR_013370
Natural variant3701N → D in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653760 [ dbSNP | Ensembl ].
VAR_067848
Natural variant3821R → W in PXE. Ref.23
Corresponds to variant rs72653761 [ dbSNP | Ensembl ].
VAR_067849
Natural variant3911R → G in GACI2 and PXE; autosomal recessive. Ref.21 Ref.22 Ref.23 Ref.27
Corresponds to variant rs72653762 [ dbSNP | Ensembl ].
VAR_067850
Natural variant3921K → N in PXE. Ref.23
VAR_067851
Natural variant3981S → G in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653764 [ dbSNP | Ensembl ].
VAR_067852
Natural variant4111N → K in PXE; autosomal dominant. Ref.16 Ref.20
Corresponds to variant rs9930886 [ dbSNP | Ensembl ].
VAR_013371
Natural variant4171V → M. Ref.25
VAR_067853
Natural variant4401C → G in PXE; autosomal recessive. Ref.20
Corresponds to variant rs72653766 [ dbSNP | Ensembl ].
VAR_067854
Natural variant4551A → P in PXE; autosomal dominant. Ref.8
Corresponds to variant rs67996819 [ dbSNP | Ensembl ].
VAR_013372
Natural variant4631L → H in PXE. Ref.23
Corresponds to variant rs72653767 [ dbSNP | Ensembl ].
VAR_067855
Natural variant4951L → H in PXE; autosomal recessive. Ref.22 Ref.23
Corresponds to variant rs72653769 [ dbSNP | Ensembl ].
VAR_067856
Natural variant4971N → K. Ref.16
Corresponds to variant rs72653770 [ dbSNP | Ensembl ].
VAR_013373
Natural variant5141V → I. Ref.22
Corresponds to variant rs59157279 [ dbSNP | Ensembl ].
VAR_067857
Natural variant5181R → Q in PXE; autosomal recessive. Ref.16 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25
Corresponds to variant rs72653772 [ dbSNP | Ensembl ].
VAR_013374
Natural variant5351S → P in PXE. Ref.23
Corresponds to variant rs72653773 [ dbSNP | Ensembl ].
VAR_067858
Natural variant5511F → S in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653774 [ dbSNP | Ensembl ].
VAR_067859
Natural variant5681F → S in PXE; autosomal dominant. Ref.16 Ref.23
Corresponds to variant rs66864704 [ dbSNP | Ensembl ].
VAR_013375
Natural variant5901S → F in GACI2. Ref.27
VAR_067860
Natural variant5941A → V in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653776 [ dbSNP | Ensembl ].
VAR_067861
Natural variant6001R → C in PXE; autosomal recessive. Ref.20 Ref.23
Corresponds to variant rs72653777 [ dbSNP | Ensembl ].
VAR_067862
Natural variant6141V → A. Ref.14 Ref.16 Ref.18 Ref.22 Ref.25
Corresponds to variant rs12931472 [ dbSNP | Ensembl ].
VAR_011490
Natural variant6321H → Q. Ref.13 Ref.16 Ref.18 Ref.22 Ref.25
Corresponds to variant rs8058694 [ dbSNP | Ensembl ].
VAR_013376
Natural variant6631G → C in PXE. Ref.23
Corresponds to variant rs72653780 [ dbSNP | Ensembl ].
VAR_067863
Natural variant6651V → A.
Corresponds to variant rs4341770 [ dbSNP | Ensembl ].
VAR_055477
Natural variant6731L → P in PXE; autosomal dominant. Ref.16
Corresponds to variant rs67470842 [ dbSNP | Ensembl ].
VAR_013377
Natural variant6771L → P in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653782 [ dbSNP | Ensembl ].
VAR_067864
Natural variant6981Q → P in PXE. Ref.23
Corresponds to variant rs72653783 [ dbSNP | Ensembl ].
VAR_067865
Natural variant6991E → D in PXE. Ref.23
Corresponds to variant rs72653784 [ dbSNP | Ensembl ].
VAR_067866
Natural variant7241R → K. Ref.22
Corresponds to variant rs58073789 [ dbSNP | Ensembl ].
VAR_067867
Natural variant7241R → L. Ref.25
VAR_067868
Natural variant7261L → P in PXE. Ref.23 Ref.25
Corresponds to variant rs72653785 [ dbSNP | Ensembl ].
VAR_067869
Natural variant7421I → V. Ref.22 Ref.25
Corresponds to variant rs59593133 [ dbSNP | Ensembl ].
VAR_067870
Natural variant7511M → K in PXE. Ref.23
Corresponds to variant rs72653786 [ dbSNP | Ensembl ].
VAR_067871
Natural variant7551G → R in PXE. Ref.23
Corresponds to variant rs72653787 [ dbSNP | Ensembl ].
VAR_067872
Natural variant7601R → W in PXE; autosomal recessive. Ref.22 Ref.23
Corresponds to variant rs72653788 [ dbSNP | Ensembl ].
VAR_067873
Natural variant7651R → Q in PXE; autosomal dominant and autosomal recessive. Ref.16 Ref.22 Ref.23 Ref.26
Corresponds to variant rs67561842 [ dbSNP | Ensembl ].
VAR_013378
Natural variant7661A → D in PXE; autosomal recessive. Ref.21
Corresponds to variant rs72653789 [ dbSNP | Ensembl ].
VAR_067874
Natural variant7771D → N in PXE. Ref.23
Corresponds to variant rs72653790 [ dbSNP | Ensembl ].
VAR_067875
Natural variant8071R → Q in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653794 [ dbSNP | Ensembl ].
VAR_067876
Natural variant8071R → W in PXE; autosomal recessive. Ref.22
Corresponds to variant rs72653793 [ dbSNP | Ensembl ].
VAR_067877
Natural variant8101V → M in PXE; autosomal recessive. Ref.20
Corresponds to variant rs72653795 [ dbSNP | Ensembl ].
VAR_067878
Natural variant8111T → M in PXE. Ref.23
Corresponds to variant rs72653796 [ dbSNP | Ensembl ].
VAR_067879
Natural variant8201A → P in PXE; autosomal recessive. Ref.20
Corresponds to variant rs72653797 [ dbSNP | Ensembl ].
VAR_067880
Natural variant8481M → V. Ref.1 Ref.2 Ref.4 Ref.25
Corresponds to variant rs6416668 [ dbSNP | Ensembl ].
VAR_059108
Natural variant8811R → S in PXE. Ref.23
Corresponds to variant rs72653800 [ dbSNP | Ensembl ].
VAR_067881
Natural variant9441T → I in PXE. Ref.23
Corresponds to variant rs72653801 [ dbSNP | Ensembl ].
VAR_067882
Natural variant9461L → I. Ref.22 Ref.25
Corresponds to variant rs61340537 [ dbSNP | Ensembl ].
VAR_067883
Natural variant9501A → T in PXE. Ref.23
Corresponds to variant rs72657689 [ dbSNP | Ensembl ].
VAR_067884
Natural variant9531L → H. Ref.16
Corresponds to variant rs72657700 [ dbSNP | Ensembl ].
VAR_013379
Natural variant9921G → R in PXE. Ref.23
Corresponds to variant rs72657692 [ dbSNP | Ensembl ].
VAR_067885
Natural variant10361Missing in GACI2 and PXE; autosomal recessive. Ref.22 Ref.27
VAR_067886
Natural variant10481Missing in PXE; autosomal recessive. Ref.22
VAR_067887
Natural variant10561D → E in PXE. Ref.22
Corresponds to variant rs72657694 [ dbSNP | Ensembl ].
VAR_067888
Natural variant10641R → W. Ref.22
Corresponds to variant rs41278174 [ dbSNP | Ensembl ].
VAR_067889
Natural variant10971L → I.
Corresponds to variant rs60707953 [ dbSNP | Ensembl ].
VAR_060988
Natural variant11141R → C in GACI2 and PXE; autosomal recessive. Ref.20 Ref.22 Ref.23 Ref.27
Corresponds to variant rs63749794 [ dbSNP | Ensembl ].
VAR_067890
Natural variant11141R → P in PXE; autosomal recessive. Ref.14 Ref.16
VAR_011491
Natural variant11211S → L in PXE. Ref.22
VAR_067891
Natural variant11211S → W in PXE; autosomal dominant. Ref.16
VAR_013380
Natural variant11301T → M in PXE; autosomal recessive. Ref.20 Ref.21 Ref.23
Corresponds to variant rs63750459 [ dbSNP | Ensembl ].
VAR_067892
Natural variant11331G → A in PXE. Ref.23
Corresponds to variant rs63750473 [ dbSNP | Ensembl ].
VAR_067893
Natural variant11381R → P in PXE; autosomal dominant. Ref.16
VAR_013381
Natural variant11381R → Q in PXE; autosomal recessive. Ref.14 Ref.16 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25
Corresponds to variant rs60791294 [ dbSNP | Ensembl ].
VAR_011492
Natural variant11381R → W in PXE; autosomal recessive. Ref.15 Ref.22 Ref.23
Corresponds to variant rs28939701 [ dbSNP | Ensembl ].
VAR_011493
Natural variant11391A → T in PXE. Ref.23
Corresponds to variant rs63750146 [ dbSNP | Ensembl ].
VAR_067894
Natural variant11641R → Q in PXE; autosomal recessive. Ref.22 Ref.23
Corresponds to variant rs63750457 [ dbSNP | Ensembl ].
VAR_067895
Natural variant12031G → D in PXE; autosomal dominant. Ref.16
Corresponds to variant rs63750607 [ dbSNP | Ensembl ].
VAR_013382
Natural variant12211R → C in PXE; autosomal recessive. Ref.22 Ref.23
Corresponds to variant rs63751215 [ dbSNP | Ensembl ].
VAR_067896
Natural variant12211R → H in GACI2. Ref.23 Ref.27
Corresponds to variant rs63751001 [ dbSNP | Ensembl ].
VAR_067897
Natural variant12261L → I in PXE. Ref.23
Corresponds to variant rs63750125 [ dbSNP | Ensembl ].
VAR_067898
Natural variant12351R → W in PXE; autosomal recessive. Ref.22
Corresponds to variant rs63750402 [ dbSNP | Ensembl ].
VAR_067899
Natural variant12381D → H in PXE; pseudodominant. Ref.21
Corresponds to variant rs63749796 [ dbSNP | Ensembl ].
VAR_067900
Natural variant12411W → C. Ref.16
Corresponds to variant rs72657701 [ dbSNP | Ensembl ].
VAR_013383
Natural variant12681R → Q Associated with lower plasma triglycerides and higher plasma HDL cholesterol. Ref.11 Ref.15 Ref.16 Ref.18 Ref.22 Ref.24
Corresponds to variant rs2238472 [ dbSNP | Ensembl ].
VAR_011494
Natural variant12981V → F in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Ref.7 Ref.16 Ref.23
VAR_013384
Natural variant13011T → I in PXE; autosomal dominant. Ref.16
Corresponds to variant rs63750494 [ dbSNP | Ensembl ].
VAR_013385
Natural variant13021G → R in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport. Ref.7 Ref.16 Ref.22 Ref.23 Ref.25
Corresponds to variant rs63749856 [ dbSNP | Ensembl ].
VAR_013386
Natural variant13031A → P in PXE; autosomal dominant and autosomal recessive. Ref.16 Ref.22 Ref.23
VAR_013387
Natural variant13141R → Q in PXE; autosomal dominant and autosomal recessive. Ref.16 Ref.22 Ref.23
VAR_013388
Natural variant13141R → W in GACI2 and PXE; autosomal recessive. Ref.14 Ref.16 Ref.23 Ref.27
Corresponds to variant rs63750759 [ dbSNP | Ensembl ].
VAR_011495
Natural variant13211G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. Ref.7 Ref.16
Corresponds to variant rs63749823 [ dbSNP | Ensembl ].
VAR_013389
Natural variant13351L → P in PXE; autosomal recessive. Ref.21 Ref.25
VAR_067901
Natural variant13351L → Q in PXE. Ref.23
Corresponds to variant rs63750414 [ dbSNP | Ensembl ].
VAR_067902
Natural variant13391R → C in PXE; autosomal recessive. Ref.13 Ref.16 Ref.20 Ref.22 Ref.23 Ref.25
Corresponds to variant rs28939702 [ dbSNP | Ensembl ].
VAR_013390
Natural variant13391R → H in PXE; autosomal recessive. Ref.23
Corresponds to variant rs63750622 [ dbSNP | Ensembl ].
VAR_067904
Natural variant13391R → L in PXE; autosomal recessive. Ref.22
VAR_067903
Natural variant13461P → S in PXE; autosomal recessive. Ref.20
Corresponds to variant rs63751112 [ dbSNP | Ensembl ].
VAR_067905
Natural variant13471Q → H in PXE; autosomal dominant. Ref.16
Corresponds to variant rs67720869 [ dbSNP | Ensembl ].
VAR_013391
Natural variant13541G → R in PXE; autosomal recessive. Ref.17
Corresponds to variant rs63750018 [ dbSNP | Ensembl ].
VAR_013392
Natural variant13571R → W in PXE; autosomal recessive. Ref.22
Corresponds to variant rs63750428 [ dbSNP | Ensembl ].
VAR_067906
Natural variant13611D → N in PXE; autosomal dominant. Ref.16
Corresponds to variant rs58695352 [ dbSNP | Ensembl ].
VAR_013393
Natural variant14001E → K in PXE; autosomal recessive. Ref.20 Ref.21
Corresponds to variant rs63751241 [ dbSNP | Ensembl ].
VAR_067907
Natural variant14061Q → K in PXE; autosomal recessive. Ref.26
VAR_067908
Natural variant14241I → T in PXE; autosomal dominant. Ref.16
Corresponds to variant rs63750295 [ dbSNP | Ensembl ].
VAR_013394
Natural variant14591R → C in PXE; putative autosomal dominant. Ref.19
Corresponds to variant rs72547524 [ dbSNP | Ensembl ].
VAR_067909

Experimental info

Sequence conflict3771L → P in AAD51293. Ref.1
Sequence conflict12741Y → C in AAD51293. Ref.1
Sequence conflict14551L → P in AAD51293. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 2.
Checksum: 2107BE13B1547B39

FASTA1,503164,906
        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 

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Isoform 2 [UniParc].

Checksum: B623C274D57FDB1D
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FASTA9910,786

References

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[1]"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] (ISOFORM 1), VARIANT VAL-848.
[2]"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] (ISOFORM 1), VARIANTS TRP-64 AND VAL-848.
[3]"A cellular gene up-regulated by hepatitis B virus-encoded X antigen promotes hepatocellular growth and survival."
Lian Z., Liu J., Pan J., Tufan N.L.S., Zhu M., Arbuthnot P., Kew M., Clayton M.M., Feitelson M.A.
Hepatology 34:146-157(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]"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.
[5]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Retinoblastoma.
[7]"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.
[8]"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.
[9]"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.
[10]"ABCC6 is a basolateral plasma membrane protein."
Pomozi V., Le Saux O., Brampton C., Apana A., Ilias A., Szeri F., Martin L., Monostory K., Paku S., Sarkadi B., Szakacs G., Varadi A.
Circ. Res. 112:E148-E151(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[11]"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.
[12]"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.
[13]"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.
[14]"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.
[15]"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.
[16]"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.
[17]"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.
[18]"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.
[19]"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.
[20]"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.
[21]"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.
[22]"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.
[23]"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.
[24]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-1268.
[25]"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.
[26]"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.
[27]"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. expand/collapse author list , Shahinyan T., Martorell L., Davies J., Smith W.E., Kahler S.G., McCulloch M., Wraige E., Loidi L., Hohne W., Martin L., Hadj-Rabia S., Terkeltaub R., 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
AF168791 mRNA. Translation: AAD51293.1.
AF076622 mRNA. Translation: AAC79696.1.
AY078405 mRNA. Translation: AAL83711.1.
U91318 Genomic DNA. Translation: AAC15785.1. Sequence problems.
AC136624 Genomic DNA. No translation available.
BC050733 mRNA. Translation: AAH50733.1.
RefSeqNP_001072996.1. NM_001079528.3.
NP_001162.4. NM_001171.5.
UniGeneHs.442182.

3D structure databases

ProteinModelPortalO95255.
SMRO95255. Positions 316-853, 932-1503.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106863. 5 interactions.
IntActO95255. 5 interactions.
STRING9606.ENSP00000205557.

Chemistry

ChEMBLCHEMBL2073661.

Protein family/group databases

TCDB3.A.1.208.10. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteO95255.

Proteomic databases

PaxDbO95255.
PRIDEO95255.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000205557; ENSP00000205557; ENSG00000091262. [O95255-1]
ENST00000575728; ENSP00000461686; ENSG00000091262. [O95255-2]
GeneID368.
KEGGhsa:368.
UCSCuc002den.4. human. [O95255-1]
uc002deo.4. human.

Organism-specific databases

CTD368.
GeneCardsGC16M016243.
H-InvDBHIX0026937.
HIX0038600.
HGNCHGNC:57. ABCC6.
MIM264800. phenotype.
603234. gene.
614473. phenotype.
neXtProtNX_O95255.
Orphanet51608. Generalized arterial calcification of infancy.
758. Pseudoxanthoma elasticum.
PharmGKBPA58.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1132.
HOVERGENHBG108314.
InParanoidO95255.
KOK05669.
OMAHPTVWLT.
OrthoDBEOG7MWGW0.
PhylomeDBO95255.
TreeFamTF105199.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO95255.
BgeeO95255.
CleanExHS_ABCC6.
GenevestigatorO95255.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR005292. Multidrug-R_assoc.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
TIGRFAMsTIGR00957. MRP_assoc_pro. 1 hit.
PROSITEPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCC6. human.
GeneWikiABCC6.
GenomeRNAi368.
NextBio1537.
PROO95255.
SOURCESearch...

Entry information

Entry nameMRP6_HUMAN
AccessionPrimary (citable) accession number: O95255
Secondary accession number(s): P78420, Q8TCY8, Q9UMZ7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 24, 2009
Last modified: April 16, 2014
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM