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O95255

- MRP6_HUMAN

UniProt

O95255 - MRP6_HUMAN

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Protein
Multidrug resistance-associated protein 6
Gene
ABCC6, ARA, MRP6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 1 Reviewed prediction
Nucleotide bindingi1299 – 13068ATP 2 Reviewed prediction

GO - Molecular functioni

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

GO - Biological processi

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

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; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3131Extracellular By similarity
Add
BLAST
Transmembranei32 – 5221Helical; Name=1; By similarity
Add
BLAST
Topological domaini53 – 7220Cytoplasmic By similarity
Add
BLAST
Transmembranei73 – 9321Helical; Name=2; By similarity
Add
BLAST
Topological domaini94 – 985Extracellular By similarity
Transmembranei99 – 11921Helical; Name=3; By similarity
Add
BLAST
Topological domaini120 – 13112Cytoplasmic By similarity
Add
BLAST
Transmembranei132 – 14918Helical; Name=4; By similarity
Add
BLAST
Topological domaini150 – 16718Extracellular By similarity
Add
BLAST
Transmembranei168 – 18821Helical; Name=5; By similarity
Add
BLAST
Topological domaini189 – 302114Cytoplasmic By similarity
Add
BLAST
Transmembranei303 – 32321Helical; Name=6; By similarity
Add
BLAST
Topological domaini324 – 34926Extracellular By similarity
Add
BLAST
Transmembranei350 – 37021Helical; Name=7; By similarity
Add
BLAST
Topological domaini371 – 42656Cytoplasmic By similarity
Add
BLAST
Transmembranei427 – 44721Helical; Name=8; By similarity
Add
BLAST
Topological domaini448 – 4503Extracellular By similarity
Transmembranei451 – 47121Helical; Name=9; By similarity
Add
BLAST
Topological domaini472 – 53362Cytoplasmic By similarity
Add
BLAST
Transmembranei534 – 55421Helical; Name=10; By similarity
Add
BLAST
Topological domaini555 – 57521Extracellular By similarity
Add
BLAST
Transmembranei576 – 59621Helical; Name=11; By similarity
Add
BLAST
Topological domaini597 – 939343Cytoplasmic By similarity
Add
BLAST
Transmembranei940 – 96021Helical; Name=12; By similarity
Add
BLAST
Topological domaini961 – 99737Extracellular By similarity
Add
BLAST
Transmembranei998 – 101821Helical; Name=13; By similarity
Add
BLAST
Topological domaini1019 – 106143Cytoplasmic By similarity
Add
BLAST
Transmembranei1062 – 108221Helical; Name=14; By similarity
Add
BLAST
Topological domaini1083 – 10831Extracellular By similarity
Transmembranei1084 – 110421Helical; Name=15; By similarity
Add
BLAST
Topological domaini1105 – 117571Cytoplasmic By similarity
Add
BLAST
Transmembranei1176 – 119621Helical; Name=16; By similarity
Add
BLAST
Topological domaini1197 – 11982Extracellular By similarity
Transmembranei1199 – 121921Helical; Name=17; By similarity
Add
BLAST
Topological domaini1220 – 1503284Cytoplasmic By similarity
Add
BLAST

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
Complete GO annotation...

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.
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.14 Publications
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. 1 Publication
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. 7 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. 3 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. 5 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. 2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 6
PRO_0000093366Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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.

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

Sequence cautioni

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

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. 1 Publication
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 | 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 varianti848 – 8481M → V.4 Publications
Corresponds to variant rs6416668 [ dbSNP | Ensembl ].
VAR_059108
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 varianti946 – 9461L → I.2 Publications
Corresponds to variant rs61340537 [ dbSNP | Ensembl ].
VAR_067883
Natural varianti950 – 9501A → T in PXE. 1 Publication
Corresponds to variant rs72657689 [ dbSNP | Ensembl ].