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O95255

- MRP6_HUMAN

UniProt

O95255 - MRP6_HUMAN

Protein

Multidrug resistance-associated protein 6

Gene

ABCC6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 157 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    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).1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi663 – 6708ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1299 – 13068ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
    2. ATP binding Source: ProtInc
    3. transporter activity Source: ProtInc

    GO - Biological processi

    1. response to drug Source: ProtInc
    2. transmembrane transport Source: Reactome
    3. transport Source: ProtInc
    4. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Sensory transduction, Transport, Vision

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_15480. ABC-family proteins mediated transport.

    Protein family/group databases

    TCDBi3.A.1.208.10. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    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 namesi
    Name:ABCC6
    Synonyms:ARA, MRP6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:57. ABCC6.

    Subcellular locationi

    Basolateral cell membrane 2 Publications; Multi-pass membrane protein 2 PublicationsPROSITE-ProRule annotation

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basolateral plasma membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. lateral plasma membrane Source: Ensembl
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.13 Publications
    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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 623Missing in PXE; autosomal recessive.
    VAR_013363
    Natural varianti74 – 741Missing in PXE. 1 Publication
    VAR_067840
    Natural varianti129 – 1291G → E in PXE; autosomal recessive. 1 Publication
    VAR_067843
    Natural varianti317 – 3171S → R in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs78678589 [ dbSNP | Ensembl ].
    VAR_067845
    Natural varianti355 – 3551L → R in GACI2 and PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653758 [ dbSNP | Ensembl ].
    VAR_067846
    Natural varianti363 – 37311Missing in PXE.
    VAR_067847Add
    BLAST
    Natural varianti364 – 3641T → R in PXE; autosomal recessive. 4 Publications
    VAR_013370
    Natural varianti370 – 3701N → D in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653760 [ dbSNP | Ensembl ].
    VAR_067848
    Natural varianti382 – 3821R → W in PXE. 1 Publication
    Corresponds to variant rs72653761 [ dbSNP | Ensembl ].
    VAR_067849
    Natural varianti391 – 3911R → G in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs72653762 [ dbSNP | Ensembl ].
    VAR_067850
    Natural varianti392 – 3921K → N in PXE. 1 Publication
    VAR_067851
    Natural varianti398 – 3981S → G in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653764 [ dbSNP | Ensembl ].
    VAR_067852
    Natural varianti411 – 4111N → K in PXE; autosomal dominant. 2 Publications
    Corresponds to variant rs9930886 [ dbSNP | Ensembl ].
    VAR_013371
    Natural varianti440 – 4401C → G in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653766 [ dbSNP | Ensembl ].
    VAR_067854
    Natural varianti455 – 4551A → P in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs67996819 [ dbSNP | Ensembl ].
    VAR_013372
    Natural varianti463 – 4631L → H in PXE.
    Corresponds to variant rs72653767 [ dbSNP | Ensembl ].
    VAR_067855
    Natural varianti495 – 4951L → H in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653769 [ dbSNP | Ensembl ].
    VAR_067856
    Natural varianti518 – 5181R → Q in PXE; autosomal recessive. 6 Publications
    Corresponds to variant rs72653772 [ dbSNP | Ensembl ].
    VAR_013374
    Natural varianti535 – 5351S → P in PXE. 1 Publication
    Corresponds to variant rs72653773 [ dbSNP | Ensembl ].
    VAR_067858
    Natural varianti551 – 5511F → S in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653774 [ dbSNP | Ensembl ].
    VAR_067859
    Natural varianti568 – 5681F → S in PXE; autosomal dominant. 2 Publications
    Corresponds to variant rs66864704 [ dbSNP | Ensembl ].
    VAR_013375
    Natural varianti594 – 5941A → V in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653776 [ dbSNP | Ensembl ].
    VAR_067861
    Natural varianti600 – 6001R → C in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653777 [ dbSNP | Ensembl ].
    VAR_067862
    Natural varianti663 – 6631G → C in PXE. 1 Publication
    Corresponds to variant rs72653780 [ dbSNP | Ensembl ].
    VAR_067863
    Natural varianti673 – 6731L → P in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs67470842 [ dbSNP | Ensembl ].
    VAR_013377
    Natural varianti677 – 6771L → P in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653782 [ dbSNP | Ensembl ].
    VAR_067864
    Natural varianti698 – 6981Q → P in PXE. 1 Publication
    Corresponds to variant rs72653783 [ dbSNP | Ensembl ].
    VAR_067865
    Natural varianti699 – 6991E → D in PXE. 1 Publication
    Corresponds to variant rs72653784 [ dbSNP | Ensembl ].
    VAR_067866
    Natural varianti726 – 7261L → P in PXE. 2 Publications
    Corresponds to variant rs72653785 [ dbSNP | Ensembl ].
    VAR_067869
    Natural varianti751 – 7511M → K in PXE. 1 Publication
    Corresponds to variant rs72653786 [ dbSNP | Ensembl ].
    VAR_067871
    Natural varianti755 – 7551G → R in PXE. 1 Publication
    Corresponds to variant rs72653787 [ dbSNP | Ensembl ].
    VAR_067872
    Natural varianti760 – 7601R → W in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653788 [ dbSNP | Ensembl ].
    VAR_067873
    Natural varianti765 – 7651R → Q in PXE; autosomal dominant and autosomal recessive. 4 Publications
    Corresponds to variant rs67561842 [ dbSNP | Ensembl ].
    VAR_013378
    Natural varianti766 – 7661A → D in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653789 [ dbSNP | Ensembl ].
    VAR_067874
    Natural varianti777 – 7771D → N in PXE. 1 Publication
    Corresponds to variant rs72653790 [ dbSNP | Ensembl ].
    VAR_067875
    Natural varianti807 – 8071R → Q in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653794 [ dbSNP | Ensembl ].
    VAR_067876
    Natural varianti807 – 8071R → W in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653793 [ dbSNP | Ensembl ].
    VAR_067877
    Natural varianti810 – 8101V → M in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653795 [ dbSNP | Ensembl ].
    VAR_067878
    Natural varianti811 – 8111T → M in PXE. 1 Publication
    Corresponds to variant rs72653796 [ dbSNP | Ensembl ].
    VAR_067879
    Natural varianti820 – 8201A → P in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653797 [ dbSNP | Ensembl ].
    VAR_067880
    Natural varianti881 – 8811R → S in PXE. 1 Publication
    Corresponds to variant rs72653800 [ dbSNP | Ensembl ].
    VAR_067881
    Natural varianti944 – 9441T → I in PXE. 1 Publication
    Corresponds to variant rs72653801 [ dbSNP | Ensembl ].
    VAR_067882
    Natural varianti950 – 9501A → T in PXE. 1 Publication
    Corresponds to variant rs72657689 [ dbSNP | Ensembl ].
    VAR_067884
    Natural varianti992 – 9921G → R in PXE. 1 Publication
    Corresponds to variant rs72657692 [ dbSNP | Ensembl ].
    VAR_067885
    Natural varianti1036 – 10361Missing in GACI2 and PXE; autosomal recessive. 2 Publications
    VAR_067886
    Natural varianti1048 – 10481Missing in PXE; autosomal recessive. 1 Publication
    VAR_067887
    Natural varianti1056 – 10561D → E in PXE. 1 Publication
    Corresponds to variant rs72657694 [ dbSNP | Ensembl ].
    VAR_067888
    Natural varianti1114 – 11141R → C in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs63749794 [ dbSNP | Ensembl ].
    VAR_067890
    Natural varianti1114 – 11141R → P in PXE; autosomal recessive. 2 Publications
    VAR_011491
    Natural varianti1121 – 11211S → L in PXE. 1 Publication
    VAR_067891
    Natural varianti1121 – 11211S → W in PXE; autosomal dominant. 1 Publication
    VAR_013380
    Natural varianti1130 – 11301T → M in PXE; autosomal recessive. 3 Publications
    Corresponds to variant rs63750459 [ dbSNP | Ensembl ].
    VAR_067892
    Natural varianti1133 – 11331G → A in PXE. 1 Publication
    Corresponds to variant rs63750473 [ dbSNP | Ensembl ].
    VAR_067893
    Natural varianti1138 – 11381R → P in PXE; autosomal dominant. 1 Publication
    VAR_013381
    Natural varianti1138 – 11381R → Q in PXE; autosomal recessive. 6 Publications
    Corresponds to variant rs60791294 [ dbSNP | Ensembl ].
    VAR_011492
    Natural varianti1138 – 11381R → W in PXE; autosomal recessive. 3 Publications
    Corresponds to variant rs28939701 [ dbSNP | Ensembl ].
    VAR_011493
    Natural varianti1139 – 11391A → T in PXE. 1 Publication
    Corresponds to variant rs63750146 [ dbSNP | Ensembl ].
    VAR_067894
    Natural varianti1164 – 11641R → Q in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs63750457 [ dbSNP | Ensembl ].
    VAR_067895
    Natural varianti1203 – 12031G → D in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs63750607 [ dbSNP | Ensembl ].
    VAR_013382
    Natural varianti1221 – 12211R → C in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs63751215 [ dbSNP | Ensembl ].
    VAR_067896
    Natural varianti1226 – 12261L → I in PXE. 1 Publication
    Corresponds to variant rs63750125 [ dbSNP | Ensembl ].
    VAR_067898
    Natural varianti1235 – 12351R → W in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs63750402 [ dbSNP | Ensembl ].
    VAR_067899
    Natural varianti1238 – 12381D → H in PXE; pseudodominant. 1 Publication
    Corresponds to variant rs63749796 [ dbSNP | Ensembl ].
    VAR_067900
    Natural varianti1298 – 12981V → F in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. 2 Publications
    VAR_013384
    Natural varianti1301 – 13011T → I in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs63750494 [ dbSNP | Ensembl ].
    VAR_013385
    Natural varianti1302 – 13021G → R in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport. 4 Publications
    Corresponds to variant rs63749856 [ dbSNP | Ensembl ].
    VAR_013386
    Natural varianti1303 – 13031A → P in PXE; autosomal dominant and autosomal recessive. 3 Publications
    VAR_013387
    Natural varianti1314 – 13141R → Q in PXE; autosomal dominant and autosomal recessive. 3 Publications
    VAR_013388
    Natural varianti1314 – 13141R → W in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs63750759 [ dbSNP | Ensembl ].
    VAR_011495
    Natural varianti1321 – 13211G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. 1 Publication
    Corresponds to variant rs63749823 [ dbSNP | Ensembl ].
    VAR_013389
    Natural varianti1335 – 13351L → P in PXE; autosomal recessive. 2 Publications
    VAR_067901
    Natural varianti1335 – 13351L → Q in PXE. 1 Publication
    Corresponds to variant rs63750414 [ dbSNP | Ensembl ].
    VAR_067902
    Natural varianti1339 – 13391R → C in PXE; autosomal recessive. 6 Publications
    Corresponds to variant rs28939702 [ dbSNP | Ensembl ].
    VAR_013390
    Natural varianti1339 – 13391R → H in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs63750622 [ dbSNP | Ensembl ].
    VAR_067904
    Natural varianti1339 – 13391R → L in PXE; autosomal recessive. 1 Publication
    VAR_067903
    Natural varianti1346 – 13461P → S in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs63751112 [ dbSNP | Ensembl ].
    VAR_067905
    Natural varianti1347 – 13471Q → H in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs67720869 [ dbSNP | Ensembl ].
    VAR_013391
    Natural varianti1354 – 13541G → R in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs63750018 [ dbSNP | Ensembl ].
    VAR_013392
    Natural varianti1357 – 13571R → W in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs63750428 [ dbSNP | Ensembl ].
    VAR_067906
    Natural varianti1361 – 13611D → N in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs58695352 [ dbSNP | Ensembl ].
    VAR_013393
    Natural varianti1400 – 14001E → K in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs63751241 [ dbSNP | Ensembl ].
    VAR_067907
    Natural varianti1406 – 14061Q → K in PXE; autosomal recessive. 1 Publication
    VAR_067908
    Natural varianti1424 – 14241I → T in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs63750295 [ dbSNP | Ensembl ].
    VAR_013394
    Natural varianti1459 – 14591R → C in PXE; putative autosomal dominant. 1 Publication
    Corresponds to variant rs72547524 [ dbSNP | Ensembl ].
    VAR_067909
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti355 – 3551L → R in GACI2 and PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653758 [ dbSNP | Ensembl ].
    VAR_067846
    Natural varianti391 – 3911R → G in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs72653762 [ dbSNP | Ensembl ].
    VAR_067850
    Natural varianti590 – 5901S → F in GACI2. 1 Publication
    VAR_067860
    Natural varianti1036 – 10361Missing in GACI2 and PXE; autosomal recessive. 2 Publications
    VAR_067886
    Natural varianti1114 – 11141R → C in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs63749794 [ dbSNP | Ensembl ].
    VAR_067890
    Natural varianti1221 – 12211R → H in GACI2. 2 Publications
    Corresponds to variant rs63751001 [ dbSNP | Ensembl ].
    VAR_067897
    Natural varianti1314 – 13141R → W in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs63750759 [ dbSNP | Ensembl ].
    VAR_011495

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi264800. phenotype.
    614473. phenotype.
    Orphaneti51608. Generalized arterial calcification of infancy.
    758. Pseudoxanthoma elasticum.
    PharmGKBiPA58.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15031503Multidrug resistance-associated protein 6PRO_0000093366Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi15 – 151N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO95255.
    PaxDbiO95255.
    PRIDEiO95255.

    PTM databases

    PhosphoSiteiO95255.

    Expressioni

    Tissue specificityi

    Expressed in kidney and liver. Very low expression in other tissues.

    Gene expression databases

    ArrayExpressiO95255.
    BgeeiO95255.
    CleanExiHS_ABCC6.
    GenevestigatoriO95255.

    Interactioni

    Protein-protein interaction databases

    BioGridi106863. 5 interactions.
    IntActiO95255. 5 interactions.
    STRINGi9606.ENSP00000205557.

    Structurei

    3D structure databases

    ProteinModelPortaliO95255.
    SMRiO95255. Positions 316-847, 945-1503.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3131ExtracellularBy similarityAdd
    BLAST
    Topological domaini53 – 7220CytoplasmicBy similarityAdd
    BLAST
    Topological domaini94 – 985ExtracellularBy similarity
    Topological domaini120 – 13112CytoplasmicBy similarityAdd
    BLAST
    Topological domaini150 – 16718ExtracellularBy similarityAdd
    BLAST
    Topological domaini189 – 302114CytoplasmicBy similarityAdd
    BLAST
    Topological domaini324 – 34926ExtracellularBy similarityAdd
    BLAST
    Topological domaini371 – 42656CytoplasmicBy similarityAdd
    BLAST
    Topological domaini448 – 4503ExtracellularBy similarity
    Topological domaini472 – 53362CytoplasmicBy similarityAdd
    BLAST
    Topological domaini555 – 57521ExtracellularBy similarityAdd
    BLAST
    Topological domaini597 – 939343CytoplasmicBy similarityAdd
    BLAST
    Topological domaini961 – 99737ExtracellularBy similarityAdd
    BLAST
    Topological domaini1019 – 106143CytoplasmicBy similarityAdd
    BLAST
    Topological domaini1083 – 10831ExtracellularBy similarity
    Topological domaini1105 – 117571CytoplasmicBy similarityAdd
    BLAST
    Topological domaini1197 – 11982ExtracellularBy similarity
    Topological domaini1220 – 1503284CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei32 – 5221Helical; Name=1PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei73 – 9321Helical; Name=2PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei99 – 11921Helical; Name=3PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei132 – 14918Helical; Name=4PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei168 – 18821Helical; Name=5PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei303 – 32321Helical; Name=6PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei350 – 37021Helical; Name=7PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei427 – 44721Helical; Name=8PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei451 – 47121Helical; Name=9PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei534 – 55421Helical; Name=10PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei576 – 59621Helical; Name=11PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei940 – 96021Helical; Name=12PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei998 – 101821Helical; Name=13PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1062 – 108221Helical; Name=14PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1084 – 110421Helical; Name=15PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1176 – 119621Helical; Name=16PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1199 – 121921Helical; Name=17PROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini311 – 593283ABC transmembrane type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini629 – 853225ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini947 – 1228282ABC transmembrane type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1265 – 1499235ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG108314.
    InParanoidiO95255.
    KOiK05669.
    OMAiHPTVWLT.
    OrthoDBiEOG7MWGW0.
    PhylomeDBiO95255.
    TreeFamiTF105199.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. 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]
    PfamiPF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 2 hits.
    TIGRFAMsiTIGR00957. MRP_assoc_pro. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 2 hits.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O95255-1) [UniParc]FASTAAdd to Basket

    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.

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    MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI     50
    YLLFIHHHGR GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE 100
    APEFLIHPTV WLTTMSFAVF LIHTERKKGV QSSGVLFGYW LLCFVLPATN 150
    AAQQASGAGF QSDPVRHLST YLCLSLVVAQ FVLSCLADQP PFFPEDPQQS 200
    NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG RENSSEELVS 250
    RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL 300
    KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY 350
    LLAVLMFLSA CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS 400
    RKASAVGDVV NLVSVDVQRL TESVLYLNGL WLPLVWIVVC FVYLWQLLGP 450
    SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ MRQKDSRARL TSSILRNSKT 500
    IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ VSTFLVALVV 550
    FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR 600
    LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN 650
    LTVPQGCLLA VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA 700
    WVQNTSVVEN VCFGQELDPP WLERVLEACA LQPDVDSFPE GIHTSIGEQG 750
    MNLSGGQKQR LSLARAVYRK AAVYLLDDPL AALDAHVGQH VFNQVIGPGG 800
    LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL LQRKGALMCL 850
    LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT 900
    TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA 950
    LFLFLCQQVA SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI 1000
    GLFASMAAVL LGGARASRLL FQRLLWDVVR SPISFFERTP IGHLLNRFSK 1050
    ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV AVATPLATVA ILPLFLLYAG 1100
    FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF RTQAPFVAQN 1150
    NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG 1200
    LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL 1250
    PTCAAQPPWP QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR 1300
    TGAGKSSLAS GLLRLQEAAE GGIWIDGVPI AHVGLHTLRS RISIIPQDPI 1350
    LFPGSLRMNL DLLQEHSDEA IWAALETVQL KALVASLPGQ LQYKCADRGE 1400
    DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM QAMLGSWFAQ 1450
    CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES 1500
    GLV 1503
    Length:1,503
    Mass (Da):164,906
    Last modified:November 24, 2009 - v2
    Checksum:i2107BE13B1547B39
    GO
    Isoform 2 (identifier: O95255-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:99
    Mass (Da):10,786
    Checksum:iB623C274D57FDB1D
    GO

    Sequence cautioni

    The sequence AAC15785.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti377 – 3771L → P in AAD51293. (PubMed:10424734)Curated
    Sequence conflicti1274 – 12741Y → C in AAD51293. (PubMed:10424734)Curated
    Sequence conflicti1455 – 14551L → P in AAD51293. (PubMed:10424734)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 623Missing in PXE; autosomal recessive.
    VAR_013363
    Natural varianti61 – 611G → D.1 Publication
    VAR_013364
    Natural varianti64 – 641R → W.3 Publications
    VAR_013365
    Natural varianti74 – 741Missing in PXE. 1 Publication
    VAR_067840
    Natural varianti78 – 781A → T.2 Publications
    VAR_067841
    Natural varianti125 – 1251E → K.1 Publication
    Corresponds to variant rs3853814 [ dbSNP | Ensembl ].
    VAR_067842
    Natural varianti129 – 1291G → E in PXE; autosomal recessive. 1 Publication
    VAR_067843
    Natural varianti158 – 1581A → V.1 Publication
    VAR_067844
    Natural varianti207 – 2071G → R.1 Publication
    VAR_013366
    Natural varianti265 – 2651R → G.4 Publications
    Corresponds to variant rs78629019 [ dbSNP | Ensembl ].
    VAR_013367
    Natural varianti281 – 2811K → E.2 Publications
    Corresponds to variant rs4780606 [ dbSNP | Ensembl ].
    VAR_013368
    Natural varianti317 – 3171S → R in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs78678589 [ dbSNP | Ensembl ].
    VAR_067845
    Natural varianti319 – 3191I → V.2 Publications
    Corresponds to variant rs72657699 [ dbSNP | Ensembl ].
    VAR_013369
    Natural varianti355 – 3551L → R in GACI2 and PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653758 [ dbSNP | Ensembl ].
    VAR_067846
    Natural varianti363 – 37311Missing in PXE.
    VAR_067847Add
    BLAST
    Natural varianti364 – 3641T → R in PXE; autosomal recessive. 4 Publications
    VAR_013370
    Natural varianti370 – 3701N → D in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653760 [ dbSNP | Ensembl ].
    VAR_067848
    Natural varianti382 – 3821R → W in PXE. 1 Publication
    Corresponds to variant rs72653761 [ dbSNP | Ensembl ].
    VAR_067849
    Natural varianti391 – 3911R → G in GACI2 and PXE; autosomal recessive. 4 Publications
    Corresponds to variant rs72653762 [ dbSNP | Ensembl ].
    VAR_067850
    Natural varianti392 – 3921K → N in PXE. 1 Publication
    VAR_067851
    Natural varianti398 – 3981S → G in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653764 [ dbSNP | Ensembl ].
    VAR_067852
    Natural varianti411 – 4111N → K in PXE; autosomal dominant. 2 Publications
    Corresponds to variant rs9930886 [ dbSNP | Ensembl ].
    VAR_013371
    Natural varianti417 – 4171V → M.1 Publication
    VAR_067853
    Natural varianti440 – 4401C → G in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653766 [ dbSNP | Ensembl ].
    VAR_067854
    Natural varianti455 – 4551A → P in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs67996819 [ dbSNP | Ensembl ].
    VAR_013372
    Natural varianti463 – 4631L → H in PXE.
    Corresponds to variant rs72653767 [ dbSNP | Ensembl ].
    VAR_067855
    Natural varianti495 – 4951L → H in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653769 [ dbSNP | Ensembl ].
    VAR_067856
    Natural varianti497 – 4971N → K.1 Publication
    Corresponds to variant rs72653770 [ dbSNP | Ensembl ].
    VAR_013373
    Natural varianti514 – 5141V → I.1 Publication
    Corresponds to variant rs59157279 [ dbSNP | Ensembl ].
    VAR_067857
    Natural varianti518 – 5181R → Q in PXE; autosomal recessive. 6 Publications
    Corresponds to variant rs72653772 [ dbSNP | Ensembl ].
    VAR_013374
    Natural varianti535 – 5351S → P in PXE. 1 Publication
    Corresponds to variant rs72653773 [ dbSNP | Ensembl ].
    VAR_067858
    Natural varianti551 – 5511F → S in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653774 [ dbSNP | Ensembl ].
    VAR_067859
    Natural varianti568 – 5681F → S in PXE; autosomal dominant. 2 Publications
    Corresponds to variant rs66864704 [ dbSNP | Ensembl ].
    VAR_013375
    Natural varianti590 – 5901S → F in GACI2. 1 Publication
    VAR_067860
    Natural varianti594 – 5941A → V in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653776 [ dbSNP | Ensembl ].
    VAR_067861
    Natural varianti600 – 6001R → C in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653777 [ dbSNP | Ensembl ].
    VAR_067862
    Natural varianti614 – 6141V → A.5 Publications
    Corresponds to variant rs12931472 [ dbSNP | Ensembl ].
    VAR_011490
    Natural varianti632 – 6321H → Q.5 Publications
    Corresponds to variant rs8058694 [ dbSNP | Ensembl ].
    VAR_013376
    Natural varianti663 – 6631G → C in PXE. 1 Publication
    Corresponds to variant rs72653780 [ dbSNP | Ensembl ].
    VAR_067863
    Natural varianti665 – 6651V → A.
    Corresponds to variant rs4341770 [ dbSNP | Ensembl ].
    VAR_055477
    Natural varianti673 – 6731L → P in PXE; autosomal dominant. 1 Publication
    Corresponds to variant rs67470842 [ dbSNP | Ensembl ].
    VAR_013377
    Natural varianti677 – 6771L → P in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653782 [ dbSNP | Ensembl ].
    VAR_067864
    Natural varianti698 – 6981Q → P in PXE. 1 Publication
    Corresponds to variant rs72653783 [ dbSNP | Ensembl ].
    VAR_067865
    Natural varianti699 – 6991E → D in PXE. 1 Publication
    Corresponds to variant rs72653784 [ dbSNP | Ensembl ].
    VAR_067866
    Natural varianti724 – 7241R → K.1 Publication
    Corresponds to variant rs58073789 [ dbSNP | Ensembl ].
    VAR_067867
    Natural varianti724 – 7241R → L.1 Publication
    VAR_067868
    Natural varianti726 – 7261L → P in PXE. 2 Publications
    Corresponds to variant rs72653785 [ dbSNP | Ensembl ].
    VAR_067869
    Natural varianti742 – 7421I → V.2 Publications
    Corresponds to variant rs59593133 [ dbSNP | Ensembl ].
    VAR_067870
    Natural varianti751 – 7511M → K in PXE. 1 Publication
    Corresponds to variant rs72653786 [ dbSNP | Ensembl ].
    VAR_067871
    Natural varianti755 – 7551G → R in PXE. 1 Publication
    Corresponds to variant rs72653787 [ dbSNP | Ensembl ].
    VAR_067872
    Natural varianti760 – 7601R → W in PXE; autosomal recessive. 2 Publications
    Corresponds to variant rs72653788 [ dbSNP | Ensembl ].
    VAR_067873
    Natural varianti765 – 7651R → Q in PXE; autosomal dominant and autosomal recessive. 4 Publications
    Corresponds to variant rs67561842 [ dbSNP | Ensembl ].
    VAR_013378
    Natural varianti766 – 7661A → D in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653789 [ dbSNP | Ensembl ].
    VAR_067874
    Natural varianti777 – 7771D → N in PXE. 1 Publication
    Corresponds to variant rs72653790 [ dbSNP | Ensembl ].
    VAR_067875
    Natural varianti807 – 8071R → Q in PXE; autosomal recessive. 1 Publication
    Corresponds to variant rs72653794 [ dbSNP |