ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!
Search for

UniProtKB/Swiss-Prot entry P35670

[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
Entry information
Entry name ATP7B_HUMAN
Primary accession number P35670
Secondary accession numbers Q16318 Q16319 Q4U3V3 Q59FJ9 Q5T7X7
Integrated into Swiss-Prot on June 1, 1994
Sequence was last modified on June 16, 2009 (Sequence version 4)
Annotations were last modified on    June 16, 2009 (Entry version 115)
Name and origin of the protein
Protein name Copper-transporting ATPase 2
Synonyms EC 3.6.3.4
Copper pump 2
Wilson disease-associated protein
Contains WND/140 kDa
Gene name
Name: ATP7B
Synonyms: PWD, WC1, WND
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ASP-96; ARG-875 AND LYS-952.
DOI=10.1093/hmg/3.9.1647; PubMed=7833924 [NCBI, ExPASy, EBI, Israel, Japan]
Petrukhin K., Lutsenko S., Chernov I., Ross B.M., Kaplan J.H., Gilliam T.C.;
"Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.";
Hum. Mol. Genet. 3:1647-1656(1994).
[2]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND VARIANTS ALA-406; LEU-456; LYS-952 AND ALA-1140.
Carlini E.J., Booth-Genthe C.L.;
"Molecular cloning of mutant ATP7B.";
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
[3]
 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[4]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
DOI=10.1006/bbrc.1999.0732; PubMed=10334941 [NCBI, ExPASy, EBI, Israel, Japan]
Oh W.J., Kim E.K., Park K.D., Hahn S.H., Yoo O.J.;
"Cloning and characterization of the promoter region of the Wilson disease gene.";
Biochem. Biophys. Res. Commun. 259:206-211(1999).
[5]
 NUCLEOTIDE SEQUENCE [MRNA] OF 33-1465 (ISOFORM 1), AND VARIANT LYS-952.
DOI=10.1038/ng1293-327; PubMed=8298639 [NCBI, ExPASy, EBI, Israel, Japan]
Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W.;
"The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.";
Nat. Genet. 5:327-337(1993).
[6]
 SEQUENCE REVISION.
Cox D.W.;
Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
[7]
 NUCLEOTIDE SEQUENCE [MRNA] OF 149-1465 (ISOFORM 2), VARIANTS WD GLN-1069 AND SER-1270, AND VARIANT ARG-875.
DOI=10.1038/ng1293-344; PubMed=8298641 [NCBI, ExPASy, EBI, Israel, Japan]
Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M., Devoto M., Peppercorn J., Bush A.I., Sternlieb I., Pirastu M., Gusella J.F., Evgrafov O., Penchaszadeh G.K., Honig B., Edelman I.S., Soares M.B., Scheinberg I.H., Gilliam T.C.;
"The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.";
Nat. Genet. 5:344-350(1993).
[8]
 NUCLEOTIDE SEQUENCE [MRNA] OF 488-837 (ISOFORM 4), AND VARIANT ARG-832.
TISSUE=Liver;
DOI=10.1006/bbrc.1993.2471; PubMed=8250934 [NCBI, ExPASy, EBI, Israel, Japan]
Yamaguchi Y., Heiny M.E., Gitlin J.D.;
"Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.";
Biochem. Biophys. Res. Commun. 197:271-277(1993).
[9]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 786-1465, AND VARIANTS ARG-832 AND ALA-1140.
TISSUE=Brain;
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
[10]
 PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS WD, AND VARIANTS.
DOI=10.1038/ng0295-210; PubMed=7626145 [NCBI, ExPASy, EBI, Israel, Japan]
Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W.;
"The Wilson disease gene: spectrum of mutations and their consequences.";
Nat. Genet. 9:210-216(1995).
[11]
 ERRATUM.
Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W.;
Nat. Genet. 9:451-451(1995).
[12]
 ALTERNATIVE SPLICING, AND SUBCELLULAR LOCATION.
PubMed=9307043 [NCBI, ExPASy, EBI, Israel, Japan]
Yang X.-L., Miura N., Kawarada Y., Terada K., Petrukhin K., Gilliam T.C., Sugiyama T.;
"Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.";
Biochem. J. 326:897-902(1997).
[13]
 POSSIBLE PROTEOLYTIC CLEAVAGE.
DOI=10.1073/pnas.95.11.6004; PubMed=9600907 [NCBI, ExPASy, EBI, Israel, Japan]
Lutsenko S., Cooper M.J.;
"Localization of the Wilson's disease protein product to mitochondria.";
Proc. Natl. Acad. Sci. U.S.A. 95:6004-6009(1998).
[14]
 INTERACTION WITH COMMD1.
DOI=10.1074/jbc.C300391200; PubMed=12968035 [NCBI, ExPASy, EBI, Israel, Japan]
Tao T.Y., Liu F., Klomp L., Wijmenga C., Gitlin J.D.;
"The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.";
J. Biol. Chem. 278:41593-41596(2003).
[15]
 VARIANTS WD, AND VARIANTS.
PubMed=8533760 [NCBI, ExPASy, EBI, Israel, Japan]
Figus A., Angius A., Loudianos G., Bertini C., Dessi V., Loi A., Deiana M., Lovicu M., Olla N., Sole G., de Virgiliis S., Lilliu F., Farci A.M.G., Nurchi A., Giacchino R., Barabino A., Marazzi M., Zancan L., Greggio N.A., Macellini M., Solinas A., Deplano A., Barbera C., Devoto M., Ozsoylu S., Kocak N., Akar N., Karayalcin S., Mokini V., Cullufi P., Balestrieri A., Cao A., Pirastu M.;
"Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.";
Am. J. Hum. Genet. 57:1318-1324(1995).
[16]
 VARIANTS WD PHE-967; MET-977; ASP-1106; ARG-1153 AND SER-1355.
DOI=10.1006/geno.1996.0564; PubMed=8938442 [NCBI, ExPASy, EBI, Israel, Japan]
Waldenstroem E., Lagerkvist A., Dahlman T., Westermark K., Landegren U.;
"Efficient detection of mutations in Wilson disease by manifold sequencing.";
Genomics 37:303-309(1996).
[17]
 VARIANTS WD.
DOI=10.1007/s004390050275; PubMed=8931691 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G., Dessi V., Angius A., Lovicu M., Loi A., Deiana M., Akar N., Vajro P., Figus A., Cao A., Pirastu M.;
"Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.";
Hum. Genet. 98:640-642(1996).
[18]
 VARIANTS WD GLN-778 AND LEU-778.
PubMed=8782057 [NCBI, ExPASy, EBI, Israel, Japan]
Chuang L.-M., Wu H.-P., Jang M.-H., Wang T.-R., Sue W.-C., Lin B.J., Cox D.W., Tai T.-Y.;
"High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.";
J. Med. Genet. 33:521-523(1996).
[19]
 VARIANTS WD.
PubMed=9311736 [NCBI, ExPASy, EBI, Israel, Japan]
Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., Parano E., Pavone L., Evgrafov O., Ivanova-Smolenskaya I.A., Anneren G., Westermark K., Urrutia F.H., Penchaszadeh G.K., Sternlieb I., Scheinberg I.H., Gilliam T.C., Petrukhin K.;
"Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.";
Am. J. Hum. Genet. 61:317-328(1997).
[20]
 VARIANT WD CYS-693.
PubMed=9772425 [NCBI, ExPASy, EBI, Israel, Japan]
Fan Y., Yang R., Yu L., Wu M., Shi S., Ren M., Han Y., Hu J., Zhao S.;
"Identification of a novel missense mutation in Wilson's disease gene.";
Chin. Med. J. 110:887-890(1997).
[21]
 VARIANTS WD VAL-1278 AND 1285-GLY--ILE-1292 DEL.
DOI=10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.3.CO;2-X; PubMed=9222767 [NCBI, ExPASy, EBI, Israel, Japan]
Orru S., Thomas G., Loizedda A., Cox D.W., Contu L.;
"24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.";
Hum. Mutat. 10:84-85(1997).
[22]
 VARIANT WD LYS-1038.
DOI=10.1111/1523-1747.ep12285622; PubMed=8980283 [NCBI, ExPASy, EBI, Israel, Japan]
Kemppainen R., Palatsi R., Kallioinen M., Oikarinen A.;
"A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.";
J. Invest. Dermatol. 108:35-39(1997).
[23]
 VARIANTS WD ALA-710; CYS-741; ILE-1031; GLN-1069 AND ARG-1176, AND VARIANTS LEU-456; GLY-949 AND ALA-1140.
PubMed=9887381 [NCBI, ExPASy, EBI, Israel, Japan]
Ha-Hao D., Hefter H., Stremmel W., Castaneda-Guillot C., Hernandez Hernandez A., Cox D.W., Auburger G.;
"His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.";
Eur. J. Hum. Genet. 6:616-623(1998).
[24]
 VARIANTS WD ARG-645; ASN-765; GLN-969; ALA-1064; GLN-1069; VAL-1213 AND 1216-VAL-VAL-1217 DEL, AND VARIANTS SER-565; GLY-723; ARG-832 AND ALA-1140.
DOI=10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.3.CO;2-F; PubMed=9482578 [NCBI, ExPASy, EBI, Israel, Japan]
Kalinsky H., Funes A., Zeldin A., Pel-Or Y., Korostishevsky M., Gershoni-Baruch R., Farrer L.A., Bonne-Tamir B.;
"Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.";
Hum. Mutat. 11:145-151(1998).
[25]
 VARIANTS WD LEU-778; VAL-874 AND PHE-1083, AND VARIANTS ARG-832; ILE-864; MET-1109 AND ALA-1140.
DOI=10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.3.CO;2-C; PubMed=9554743 [NCBI, ExPASy, EBI, Israel, Japan]
Kim E.K., Yoo O.J., Song K.Y., Yoo H.W., Choi S.Y., Cho S.W., Hahn S.H.;
"Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.";
Hum. Mutat. 11:275-278(1998).
[26]
 VARIANTS WD LEU-778; VAL-874; GLY-919; SER-1186; ALA-1267 AND SER-1270.
PubMed=9452121 [NCBI, ExPASy, EBI, Israel, Japan]
Yamaguchi A., Matsuura A., Arashima S., Kikuchi Y., Kikuchi K.;
"Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.";
Hum. Mutat. Suppl. 1:S320-S322(1998).
[27]
 VARIANTS WD VAL-85; SER-492; 608-PHE-ASP-609 DELINS TYR; HIS-642; ARG-645; ILE-665; ARG-691; PHE-747; TRP-778; LEU-840; ASN-918; TRP-919; ASN-921; PRO-933; LEU-992; THR-1003; VAL-1018; TRP-1041; VAL-1089; MET-1146; GLY-1183; THR-1183; MET-1216; ASP-1341 AND SER-1358.
DOI=10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.3.CO;2-7; PubMed=9671269 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G., Dessi V., Lovicu M., Angius A., Nurchi A., Sturniolo G.C., Marcellini M., Zancan L., Bragetti P., Akar N., Yagci R., Vegnente A., Cao A., Pirastu M.;
"Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.";
Hum. Mutat. 12:89-94(1998).
[28]
 VARIANTS WD.
DOI=10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.3.CO;2-J; PubMed=9829905 [NCBI, ExPASy, EBI, Israel, Japan]
Tsai C.-H., Tsai F.-J., Wu J.-Y., Chang J.-G., Lee C.-C., Lin S.-P., Yang C.-F., Jong Y.-J., Lo M.-C.;
"Mutation analysis of Wilson disease in Taiwan and description of six new mutations.";
Hum. Mutat. 12:370-376(1998).
[29]
 VARIANT WD PRO-1041.
PubMed=10194254 [NCBI, ExPASy, EBI, Israel, Japan]
Wu Z., Wang N., Murong S., Lin M.;
"Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients.";
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:91-93(1999).
[30]
 VARIANTS WD 670-TYR-MET-671 DEL; TYR-985 AND THR-1148.
DOI=10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H; PubMed=10447265 [NCBI, ExPASy, EBI, Israel, Japan]
Haas R., Gutierrez-Rivero B., Knoche J., Boeker K., Manns M.P., Schmidt H.H.-J.;
"Mutation analysis in patients with Wilson disease: identification of 4 novel mutations.";
Hum. Mutat. 14:88-88(1999).
[31]
 VARIANTS WD.
DOI=10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9; PubMed=10502776 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G., Dessi V., Lovicu M., Angius A., Figus A., Lilliu F., De Virgiliis S., Nurchi A.M., Deplano A., Moi P., Pirastu M., Cao A.;
"Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect.";
Hum. Mutat. 14:294-303(1999).
[32]
 VARIANTS WD.
DOI=10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W; PubMed=10502777 [NCBI, ExPASy, EBI, Israel, Japan]
Curtis D., Durkie M., Balac P., Sheard D., Goodeve A., Peake I., Quarrell O., Tanner S.;
"A study of Wilson disease mutations in Britain.";
Hum. Mutat. 14:304-311(1999).
[33]
 VARIANT WD GLN-1069.
PubMed=10051024 [NCBI, ExPASy, EBI, Israel, Japan]
Ivanova-Smolenskaya I.A., Ovchinnikov I.V., Karabanov A.V., Deineko N.L., Poleshchuk V.V., Markova E.D., Illarioshkin S.N.;
"The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.";
J. Med. Genet. 36:174-174(1999).
[34]
 VARIANTS WD SER-710; ARG-711; LEU-840; VAL-874; GLN-969; VAL-1003; TRP-1041; PRO-1041; GLU-1061; VAL-1063; GLY-1068; GLN-1069; GLU-1089; PHE-1104; HIS-1151; THR-1169; LYS-1173; VAL-1222; PHE-1262; VAL-1327; PHE-1363 AND MET-1434, AND VARIANTS ARG-1207 AND ILE-1297.
PubMed=10544227 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G., Dessi V., Lovicu M., Angius A., Altuntas B., Giacchino R., Marazzi M., Marcellini M., Sartorelli M.R., Sturniolo G.C., Kocak N., Yuce A., Akar N., Pirastu M., Cao A.;
"Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.";
J. Med. Genet. 36:833-836(1999).
[35]
 VARIANTS WD LEU-778; VAL-874; GLY-919; ILE-1029; VAL-1035; SER-1186 AND ASN-1222.
DOI=10.1046/j.1442-200X.1999.01092.x; PubMed=10453196 [NCBI, ExPASy, EBI, Israel, Japan]
Shimizu N., Nakazono H., Takeshita Y., Ikeda C., Fujii H., Watanabe A., Yamaguchi Y., Hemmi H., Shimatake H., Aoki T.;
"Molecular analysis and diagnosis in Japanese patients with Wilson's disease.";
Pediatr. Int. 41:409-413(1999).
[36]
 VARIANTS WD SER-486; GLY-778; MET-890; GLN-969; GLU-1061; GLN-1069; SER-1099 AND THR-1148.
DOI=10.1089/109065700750065162; PubMed=11216666 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G., Lovicu M., Solinas P., Kanavakis E., Tzetis M., Manolaki N., Panagiotakaki E., Karpathios T., Cao A.;
"Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.";
Genet. Test. 4:399-402(2000).
[37]
 VARIANT WD PRO-708.
DOI=10.1053/jhep.2000.20152; PubMed=11093740 [NCBI, ExPASy, EBI, Israel, Japan]
Garcia-Villarreal L., Daniels S., Shaw S.H., Cotton D., Galvin M., Geskes J., Bauer P., Sierra-Hernandez A., Buckler A., Tugores A.;
"High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.";
Hepatology 32:1329-1336(2000).
[38]
 VARIANTS WD ILE-769; LEU-778; TRP-778; VAL-874; GLY-919; THR-1003; PHE-1083; SER-1186; ALA-1267; SER-1270; THR-1336 AND PRO-1373, AND VARIANTS ALA-406; LEU-456 AND ALA-1140.
DOI=10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.3.CO;2-A; PubMed=10790207 [NCBI, ExPASy, EBI, Israel, Japan]
Okada T., Shiono Y., Hayashi H., Satoh H., Sawada T., Suzuki A., Takeda Y., Yano M., Michitaka K., Onji M., Mabuchi H.;
"Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.";
Hum. Mutat. 15:454-462(2000).
[39]
 VARIANTS WD LEU-778; VAL-874 AND VAL-1297 DEL, AND VARIANTS LEU-290; ALA-406; LEU-456; ARG-832; ALA-1140 AND GLU-1407.
DOI=10.1007/s100380050017; PubMed=10721669 [NCBI, ExPASy, EBI, Israel, Japan]
Kusuda Y., Hamaguchi K., Mori T., Shin R., Seike M., Sakata T.;
"Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.";
J. Hum. Genet. 45:86-91(2000).
[40]
 VARIANT WD GLY-1279.
DOI=10.1007/s100380070015; PubMed=11043508 [NCBI, ExPASy, EBI, Israel, Japan]
Lee C.C., Wu J.Y., Tsai F.J., Kodama H., Abe T., Yang C.F., Tsai C.H.;
"Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.";
J. Hum. Genet. 45:275-279(2000).
[41]
 VARIANTS WD LEU-760 AND PRO-1305.
DOI=10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0; PubMed=11180609 [NCBI, ExPASy, EBI, Israel, Japan]
Genschel J., Czlonkowska A., Sommer G., Buettner C., Bochow B., Lochs H., Schmidt H.;
"Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.";
Hum. Mutat. 17:156-156(2001).
[42]
 VARIANTS WD TRP-616; ALA-710; SER-710; LEU-760; ASN-765; VAL-769; GLN-969; LEU-992; GLN-1069 AND SER-1270, AND VARIANTS ALA-406; LEU-456 AND ARG-832.
DOI=10.1016/S0168-8278(01)00219-7; PubMed=11690702 [NCBI, ExPASy, EBI, Israel, Japan]
Caca K., Ferenci P., Kuehn H.-J., Polli C., Willgerodt H., Kunath B., Hermann W., Moessner J., Berr F.;
"High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.";
J. Hepatol. 35:575-581(2001).
[43]
 VARIANTS WD TRP-778; ARG-898; GLN-1069; THR-1102 AND ARG-1266.
DOI=10.1006/mgme.2000.3143; PubMed=11243728 [NCBI, ExPASy, EBI, Israel, Japan]
Butler P., McIntyre N., Mistry P.K.;
"Molecular diagnosis of Wilson disease.";
Mol. Genet. Metab. 72:223-230(2001).
[44]
 VARIANTS WD PHE-1083 AND ASN-1296.
DOI=10.1007/s00431-001-0865-9; PubMed=11954751 [NCBI, ExPASy, EBI, Israel, Japan]
Ohya K., Abo W., Tamaki H., Sugawara C., Endo T., Nomachi S., Fukushi M., Kinebuchi M., Matsuura A.;
"Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.";
Eur. J. Pediatr. 161:124-126(2002).
[45]
 VARIANTS WD HIS-768; LEU-778; VAL-874; PHE-1083; SER-1168; ILE-1255; ALA-1267 AND SER-1270.
DOI=10.1097/00125817-200211001-00009; PubMed=12544487 [NCBI, ExPASy, EBI, Israel, Japan]
Yoo H.-W.;
"Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.";
Genet. Med. 4:43S-48S(2002).
[46]
 VARIANTS WD PRO-721 AND GLY-1183.
DOI=10.1002/humu.10121; PubMed=12325021 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G., Lovicu M., Dessi V., Tzetis M., Kanavakis E., Zancan L., Zelante L., Galvez-Galvez C., Cao A.;
"Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.";
Hum. Mutat. 20:260-266(2002).
[47]
 VARIANTS WD LEU-778; VAL-874 AND GLY-919.
DOI=10.1007/s100380200082; PubMed=12376745 [NCBI, ExPASy, EBI, Israel, Japan]
Takeshita Y., Shimizu N., Yamaguchi Y., Nakazono H., Saitou M., Fujikawa Y., Aoki T.;
"Two families with Wilson disease in which siblings showed different phenotypes.";
J. Hum. Genet. 47:543-547(2002).
[48]
 VARIANTS WD VAL-85; GLY-765; LEU-778; MET-890; GLY-919; MET-935; TYR-975; LEU-992; ARG-1098; THR-1148; LYS-1173 AND ASN-1248, AND VARIANTS ASP-14; ALA-406; LEU-456; ARG-832; ALA-1140; ASN-1143 AND SER-1245.
DOI=10.1046/j.1399-0004.2003.00179.x; PubMed=14986826 [NCBI, ExPASy, EBI, Israel, Japan]
Gu Y.-H., Kodama H., Du S.-L., Gu Q.-J., Sun H.-J., Ushijima H.;
"Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.";
Clin. Genet. 64:479-484(2003).
[49]
 VARIANT WD SER-1341.
DOI=10.1159/000075092; PubMed=14639035 [NCBI, ExPASy, EBI, Israel, Japan]
Majumdar R., Al Jumah M., Zaidan R.;
"A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.";
Eur. Neurol. 51:52-54(2004).
[50]
 VARIANTS WD SER-41; GLY-949; LEU-1094; PRO-1232 AND ARG-1373.
DOI=10.1002/humu.9227; PubMed=15024742 [NCBI, ExPASy, EBI, Israel, Japan]
Deguti M.M., Genschel J., Cancado E.L.R., Barbosa E.R., Bochow B., Mucenic M., Porta G., Lochs H., Carrilho F.J., Schmidt H.H.-J.;
"Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.";
Hum. Mutat. 23:398-398(2004).
[51]
 VARIANT WD ARG-766.
PubMed=15557537 [NCBI, ExPASy, EBI, Israel, Japan]
Pendlebury S.T., Rothwell P.M., Dalton A., Burton E.A.;
"Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.";
Neurology 63:1982-1983(2004).
[52]
 VARIANTS WD LEU-778; ASP-943; ILE-1106; ALA-1140 AND MET-1216.
PubMed=14966923 [NCBI, ExPASy, EBI, Israel, Japan]
Liu X.-Q., Zhang Y.-F., Liu T.-T., Hsiao K.-J., Zhang J.-M., Gu X.-F., Bao K.-R., Yu L.-H., Wang M.-X.;
"Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.";
World J. Gastroenterol. 10:590-593(2004).
[53]
 VARIANTS WD THR-1148 AND ARG-1176.
DOI=10.1046/j.1529-8817.2005.00171.x; PubMed=15845031 [NCBI, ExPASy, EBI, Israel, Japan]
Dedoussis G.V.Z., Genschel J., Sialvera T.-E., Bochow B., Manolaki N., Manios Y., Tsafantakis E., Schmidt H.;
"Wilson disease: high prevalence in a mountainous area of Crete.";
Ann. Hum. Genet. 69:268-274(2005).
[54]
 VARIANTS WD HIS-992; THR-1003; THR-1102; TYR-1104 AND ARG-1256.
DOI=10.1111/j.1399-0004.2005.00440.x; PubMed=15811015 [NCBI, ExPASy, EBI, Israel, Japan]
Kumar S., Thapa B.R., Kaur G., Prasad R.;
"Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.";
Clin. Genet. 67:443-445(2005).
[55]
 VARIANTS WD ARG-645; LEU-690; ARG-869; SER-943; MET-977; GLU-1061; GLN-1069; SER-1099; MET-1216 AND PRO-1232, AND VARIANTS ALA-406; LEU-456; ARG-832 AND ALA-1140.
DOI=10.1111/j.1399-0004.2005.00439.x; PubMed=15952988 [NCBI, ExPASy, EBI, Israel, Japan]
Margarit E., Bach V., Gomez D., Bruguera M., Jara P., Queralt R., Ballesta F.;
"Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene.";
Clin. Genet. 68:61-68(2005).
[56]
 VARIANTS WD GLN-616; ALA-626; TRP-778; GLY-778; VAL-874; GLN-969; THR-1003; GLN-1069; 1217-VAL-LEU-1218 DEL; SER-1270; TYR-1279; ASP-1341; SER-1352 AND PRO-1368.
DOI=10.1111/j.1399-0004.2005.00516.x; PubMed=16207219 [NCBI, ExPASy, EBI, Israel, Japan]
Todorov T., Savov A., Jelev H., Panteleeva E., Konstantinova D., Krustev Z., Mihaylova V., Tournev I., Tankova L., Tzolova N., Kremensky I.;
"Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.";
Clin. Genet. 68:474-476(2005).
[57]
 VARIANTS WD GLN-616; TYR-639; TYR-653; PRO-776; GLY-778; MET-977; ARG-988; LEU-992; GLN-1069; PRO-1095; MET-1220; LEU-1273 AND ASP-1341.
DOI=10.1111/j.1399-0004.2005.00528.x; PubMed=16283883 [NCBI, ExPASy, EBI, Israel, Japan]
Gromadzka G., Schmidt H.H.-J., Genschel J., Bochow B., Rodo M., Tarnacka B., Litwin T., Chabik G., Czlonkowska A.;
"Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.";
Clin. Genet. 68:524-532(2005).
[58]
 VARIANTS WD HIS-532; ASP-591; PRO-604; SER-641; TYR-703; VAL-710; GLY-756; MET-766; THR-861; CYS-943; MET-991; THR-996; ARG-1000; GLU-1176; GLU-1221; SER-1287; SER-1331; VAL-1341; SER-1375 AND SER-1379.
DOI=10.1002/humu.9358; PubMed=16088907 [NCBI, ExPASy, EBI, Israel, Japan]
Cox D.W., Prat L., Walshe J.M., Heathcote J., Gaffney D.;
"Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.";
Hum. Mutat. 26:280-280(2005).
[59]
 VARIANTS WD SER-641; SER-710; ARG-737; GLY-778; GLU-918; GLN-969; MET-977; VAL-1018; SER-1033; TRP-1041; VAL-1063; LYS-1064; GLN-1069; THR-1102; ASP-1111; THR-1148; ARG-1176; SER-1186; ASN-1271; LEU-1273; PRO-1305; ASP-1341 AND CYS-1355, AND VARIANTS LEU-456; ARG-832 AND ALA-1140.
DOI=10.1016/j.ymgme.2005.05.004; PubMed=15967699 [NCBI, ExPASy, EBI, Israel, Japan]
Vrabelova S., Letocha O., Borsky M., Kozak L.;
"Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.";
Mol. Genet. Metab. 86:277-285(2005).
[60]
 VARIANT WD ARG-691.
DOI=10.1111/j.1399-0004.2007.00853.x; PubMed=17718866 [NCBI, ExPASy, EBI, Israel, Japan]
Barada K., Nemer G., ElHajj I.I., Touma J., Cortas N., Boustany R.-M., Usta J.;
"Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.";
Clin. Genet. 72:264-267(2007).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U11700; AAA92667.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
DQ015922; AAY41166.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL139082; CAI12888.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL138821; CAI12888.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL162377; CAI12888.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL162377; CAI13428.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL138821; CAI13428.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL139082; CAI13428.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL138821; CAI13743.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL139082; CAI13743.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL162377; CAI13743.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF034838; AAD01998.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U03464; AAB52902.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
L25591; AAA79211.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
L25591; AAA79212.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
L25442; AAA16173.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB209461; BAD92698.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S77446; AAD14987.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S77447; AAB34086.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
S77450; AAB34087.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00020058; -.
IPI00216296; -.
IPI00515019; -.
IPI00658175; -.
PIR I78536; I78536.
I78537; I78537.
S78555; S78555.
RefSeq NP_000044.2; -.
NP_001005918.1; -.
UniGene Hs.492280
3D structure databases
PDB
2ARF; NMR; -; A=1036-1196.[ExPASy / RCSB / EBI]
2EW9; NMR; -; A=486-633.[ExPASy / RCSB / EBI]
2ROP; NMR; -; A=238-439.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 2ARF; -.
2EW9; -.
2ROP; -.
ModBase P35670.
Protein family/group databases
TCDB 3.A.3.5.3; P-type ATPase (P-ATPase) superfamily.
Enzyme and pathway databases
BRENDA 3.6.3.4; 247.
Organism-specific databases
GeneCards GC13M051404; -.
HGNC HGNC:870; ATP7B.
GenAtlas ATP7B.
HPA HPA013187; -.
MIM 277900; phenotype. [NCBI / EBI]
606882; gene. [NCBI / EBI]
Orphanet 905; Wilson disease.
PharmGKB PA73; -.
Gene expression databases
ArrayExpress P35670; -.
Bgee P35670; -.
CleanEx HS_ATP7B; -.
GermOnline ENSG00000123191; Homo sapiens.
Ontologies
GO
GO:0005794; Cellular component: Golgi apparatus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005887; Cellular component: integral to plasma membrane (traceable author statement from UniProtKB).
GO:0005770; Cellular component: late endosome (inferred from direct assay from UniProtKB).
GO:0005739; Cellular component: mitochondrion (inferred from electronic annotation from UniProtKB-KW).
GO:0005524; Molecular function: ATP binding (inferred from direct assay from UniProtKB).
GO:0005507; Molecular function: copper ion binding (inferred from direct assay from UniProtKB).
GO:0004008; Molecular function: copper-exporting ATPase activity (traceable author statement from UniProtKB).
GO:0000287; Molecular function: magnesium ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0005515; Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0006754; Biological process: ATP biosynthetic process (inferred from electronic annotation from InterPro).
GO:0006878; Biological process: cellular copper ion homeostasis (traceable author statement from UniProtKB).
GO:0015677; Biological process: copper ion import (inferred from direct assay from UniProtKB).
GO:0046688; Biological process: response to copper ion (inferred from direct assay from UniProtKB).
GO:0051208; Biological process: sequestering of calcium ion (inferred from direct assay from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR001877; ATPase1_Cu-transp.
IPR008250; ATPase_P-typ_ATPase-assoc-reg.
IPR006403; ATPase_P-typ_cat/Cu-transptr.
IPR006416; ATPase_P-typ_heavy-metal.
IPR001757; ATPase_P-typ_ion-transptr.
IPR018303; ATPase_P-typ_phosphor_site.
IPR006122; Cu_ion_bd.
IPR005834; Dehalogen-like_hydro.
IPR017969; Heavy-metal-associated_CS.
IPR006121; HeavyMe_transpt.
Graphical view of domain structure.
PANTHER PTHR11939; ATPase_P; 1.
Pfam PF00122; E1-E2_ATPase; 1.
PF00403; HMA; 6.
PF00702; Hydrolase; 1.
Pfam graphical view of domain structure.
PRINTS PR00119; CATATPASE.
PR00942; CUATPASEI.
TIGRFAMs TIGR01511; ATPase-IB1_Cu; 1.
TIGR01525; ATPase-IB_hvy; 1.
TIGR01494; ATPase_P-type; 2.
TIGR00003; Cu_ion_bd; 4.
PROSITE PS00154; ATPASE_E1_E2; 1.
PS01047; HMA_1; 6.
PS50846; HMA_2; 6.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE P35670; -.
Genome annotation databases
Ensembl ENSG00000123191; Homo sapiens. [Contig view]
GeneID 540; -.
KEGG hsa:540; -.
Phylogenomic databases
HOGENOM P35670; -.
HOVERGEN P35670; -.
Other
NextBio 2239; -.
SOURCE ATP7B; Homo sapiens.
ProtoNet P35670.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Alternative splicing; ATP-binding; Copper; Copper transport; Cytoplasm; Disease mutation; Golgi apparatus; Hydrolase; Ion transport; Magnesium; Membrane; Metal-binding; Mitochondrion; Nucleotide-binding; Phosphoprotein; Polymorphism; Repeat; Transmembrane; Transport.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1465  1465     Copper-transporting ATPase 2. PRO_0000046314
CHAIN   ?   1465        WND/140 kDa. PRO_0000296199
TOPO_DOM   1    653  653     Cytoplasmic (Potential). 
TRANSMEM   654    675  22     Potential. 
TOPO_DOM   676    697  22     Extracellular (Potential). 
TRANSMEM   698    717  20     Potential. 
TOPO_DOM   718    724  7     Cytoplasmic (Potential). 
TRANSMEM   725    745  21     Potential. 
TOPO_DOM   746    764  19     Extracellular (Potential). 
TRANSMEM   765    785  21     Potential. 
TOPO_DOM   786    919  134     Cytoplasmic (Potential). 
TRANSMEM   920    942  23     Potential. 
TOPO_DOM   943    972  30     Extracellular (Potential). 
TRANSMEM   973    994  22     Potential. 
TOPO_DOM   995   1322  328     Cytoplasmic (Potential). 
TRANSMEM   1323   1340  18     Potential. 
TOPO_DOM   1341   1351  11     Extracellular (Potential). 
TRANSMEM   1352   1371  20     Potential. 
TOPO_DOM   1372   1465  94     Cytoplasmic (Potential). 
DOMAIN   59    125  67     HMA 1. 
DOMAIN   144    210  67     HMA 2. 
DOMAIN   258    327  70     HMA 3. 
DOMAIN   360    426  67     HMA 4. 
DOMAIN   489    555  67     HMA 5. 
DOMAIN   565    631  67     HMA 6. 
COMPBIAS   340    345  6     Poly-Ser. 
ACT_SITE   1027   1027        4-aspartylphosphate intermediate (By similarity). 
METAL   1267   1267        Magnesium (By similarity). 
METAL   1271   1271        Magnesium (By similarity). 
VAR_SEQ   269    379        Missing (in isoform 3). VSP_016559
VAR_SEQ   624    785        Missing (in isoform 2). VSP_000426
VAR_SEQ   911    955        Missing (in isoform 2). VSP_000427
VAR_SEQ   938    955        Missing (in isoform 4). VSP_016560
VARIANT   14     14  1     A -> D. VAR_023010 
VARIANT   41     41  1     N -> S (in WD). VAR_023011 
VARIANT   85     85  1     G -> V (in WD). VAR_000703 
VARIANT   96     96  1     G -> D. VAR_000704 
VARIANT   290    290  1     V -> L. VAR_044453 
VARIANT   390    390  1     I -> V. VAR_000705 
VARIANT   406    406  1     S -> A (in dbSNP:rs1801243 [NCBI]). VAR_000706 
VARIANT   446    446  1     V -> L. VAR_000707 
VARIANT   456    456  1     V -> L (in dbSNP:rs1801244 [NCBI]). VAR_000708 
VARIANT   466    466  1     L -> V. VAR_000709 
VARIANT   486    486  1     A -> S (in WD). VAR_044454 
VARIANT   492    492  1     L -> S (in WD). VAR_000710 
VARIANT   532    532  1     Y -> H (in WD). VAR_044455 
VARIANT   565    565  1     N -> S. VAR_000711 
VARIANT   591    591  1     G -> D (in WD). VAR_044456 
VARIANT   604    604  1     A -> P (in WD). VAR_044457 
VARIANT   608    609  2     FD -> Y (in WD). VAR_010009
VARIANT   616    616  1     R -> Q (in WD). VAR_009004 
VARIANT   616    616  1     R -> W (in WD). VAR_023012 
VARIANT   626    626  1     G -> A (in WD). VAR_000712 
VARIANT   639    639  1     H -> Y (in WD). VAR_044458 
VARIANT   641    641  1     L -> S (in WD). VAR_023013 
VARIANT   642    642  1     D -> H (in WD). VAR_000713 
VARIANT   645    645  1     M -> R (in WD). VAR_000714 
VARIANT   653    653  1     S -> Y (in WD). VAR_044459 
VARIANT   665    665  1     M -> I (in WD). VAR_000715 
VARIANT   670    671  2     Missing (in WD). VAR_009005
VARIANT   690    690  1     P -> L (in WD). VAR_023014 
VARIANT   691    691  1     G -> R (in WD). VAR_000716 
VARIANT   693    693  1     S -> C (in WD). VAR_023015 
VARIANT   703    703  1     C -> Y (in WD). VAR_044460 
VARIANT   708    708  1     L -> P (in WD). VAR_000717 
VARIANT   710    710  1     G -> A (in WD). VAR_010010 
VARIANT   710    710  1     G -> R (in WD). VAR_000718 
VARIANT   710    710  1     G -> S (in WD). VAR_000719 
VARIANT   710    710  1     G -> V (in WD). VAR_044461 
VARIANT   711    711  1     G -> E (in WD). VAR_000720 
VARIANT   711    711  1     G -> R (in WD). VAR_009006 
VARIANT   711    711  1     G -> W (in WD). VAR_009007 
VARIANT   713    713  1     Y -> C (in WD). VAR_000721 
VARIANT   721    721  1     S -> P (in WD). VAR_023016 
VARIANT   723    723  1     R -> G. VAR_000722 
VARIANT   737    737  1     T -> R (in WD). VAR_023017 
VARIANT   741    741  1     Y -> C (in WD). VAR_010011 
VARIANT   744    744  1     S -> P (in WD). VAR_009008 
VARIANT   747    747  1     I -> F (in WD). VAR_000723 
VARIANT   756    756  1     A -> G (in WD). VAR_044462 
VARIANT   760    760  1     P -> L (in WD). VAR_023018 
VARIANT   765    765  1     D -> G (in WD). VAR_023019 
VARIANT   765    765  1     D -> N (in WD). VAR_000724 
VARIANT   766    766  1     T -> M (in WD). VAR_044463 
VARIANT   766    766  1     T -> R (in WD). VAR_044464 
VARIANT   768    768  1     P -> H (in WD). VAR_023020 
VARIANT   769    769  1     M -> I (in WD). VAR_023021 
VARIANT   769    769  1     M -> R (in WD). VAR_009009 
VARIANT   769    769  1     M -> V (in WD). VAR_000725 
VARIANT   776    776  1     L -> P (in WD). VAR_044465 
VARIANT   776    776  1     L -> V (possible polymorphism). VAR_000726 
VARIANT   778    778  1     R -> G (in WD). VAR_000727 
VARIANT   778    778  1     R -> L (in WD; most common mutation). VAR_000728 
VARIANT   778    778  1     R -> Q (in WD). VAR_000729 
VARIANT   778    778  1     R -> W (in WD). VAR_000730 
VARIANT   795    795  1     L -> F (in WD). VAR_000731 
VARIANT   795    795  1     L -> R (in WD). VAR_009010 
VARIANT   832    832  1     K -> R (in dbSNP:rs1061472 [NCBI]). VAR_000732 
VARIANT   840    840  1     P -> L (in WD). VAR_000733 
VARIANT   857    857  1     I -> T (in WD). VAR_000734 
VARIANT   861    861  1     A -> T (in WD). VAR_044466 
VARIANT   864    864  1     V -> I. VAR_000735 
VARIANT   869    869  1     G -> R (in WD). VAR_000736 
VARIANT   869    869  1     G -> V (in WD). VAR_009011 
VARIANT   874    874  1     A -> V (in WD). VAR_000737 
VARIANT   875    875  1     G -> R. VAR_023022 
VARIANT   875    875  1     G -> V (in WD; requires 2 nucleotide substitutions). VAR_044467 
VARIANT   890    890  1     V -> M (in WD). VAR_023023 
VARIANT   891    891  1     G -> V (in WD). VAR_010012 
VARIANT   898    898  1     Q -> R (in WD). VAR_023024 
VARIANT   918    918  1     D -> E (in WD). VAR_023025 
VARIANT   918    918  1     D -> N (in WD). VAR_000738 
VARIANT   919    919  1     R -> G (in WD). VAR_000739 
VARIANT   919    919  1     R -> W (in WD). VAR_000740 
VARIANT   921    921  1     S -> N (in WD). VAR_000741 
VARIANT   933    933  1     T -> P (in WD). VAR_000742 
VARIANT   935    935  1     T -> M (in WD). VAR_000743 
VARIANT   943    943  1     G -> C (in WD). VAR_044468 
VARIANT   943    943  1     G -> D (in WD). VAR_000744 
VARIANT   943    943  1     G -> S (in WD). VAR_000745 
VARIANT   949    949  1     V -> G (in WD). VAR_023026 
VARIANT   952    952  1     R -> K (in dbSNP:rs732774 [NCBI]). VAR_000746 
VARIANT   967    967  1     I -> F (in WD; dbSNP:rs60003608 [NCBI]). VAR_010013 
VARIANT   969    969  1     R -> Q (in WD). VAR_000747 
VARIANT   975    975  1     S -> Y (in WD). VAR_023027 
VARIANT   977    977  1     T -> M (in WD). VAR_000748 
VARIANT   985    985  1     C -> Y (in WD). VAR_009012 
VARIANT   988    988  1     G -> R (in WD). VAR_044469 
VARIANT   991    991  1     T -> M (in WD; dbSNP:rs41292782 [NCBI]). VAR_044470 
VARIANT   992    992  1     P -> H (in WD). VAR_044471 
VARIANT   992    992  1     P -> L (in WD; common mutation). VAR_000749 
VARIANT   995    995  1     V -> A. VAR_000750 
VARIANT   996    996  1     M -> T (in WD). VAR_044472 
VARIANT   1000   1000  1     G -> R (in WD). VAR_044473 
VARIANT   1003   1003  1     A -> T (in WD). VAR_000751 
VARIANT   1003   1003  1     A -> V (in WD). VAR_009013 
VARIANT   1018   1018  1     A -> V (in WD). VAR_000752 
VARIANT   1029   1029  1     T -> I (in WD). VAR_044474 
VARIANT   1031   1031  1     T -> I (in WD). VAR_010014 
VARIANT   1033   1033  1     T -> A (in WD). VAR_009014 
VARIANT   1033   1033  1     T -> S (in WD). VAR_023028 
VARIANT   1035   1035  1     G -> V (in WD). VAR_000753 
VARIANT   1038   1038  1     R -> K (in WD; dbSNP:rs59959366 [NCBI]). VAR_010015 
VARIANT   1041   1041  1     R -> P (in WD). VAR_009015 
VARIANT   1041   1041  1     R -> W (in WD). VAR_000754 
VARIANT   1043   1043  1     L -> P (in WD). VAR_000755 
VARIANT   1052   1052  1     P -> L (in WD). VAR_009016 
VARIANT   1061   1061  1     G -> E (in WD). VAR_009017 
VARIANT   1063   1063  1     A -> V (in WD; could be a polymorphism). VAR_009018 
VARIANT   1064   1064  1     E -> A (in WD). VAR_000756 
VARIANT   1064   1064  1     E -> K (in WD). VAR_000757 
VARIANT   1065   1065  1     A -> P (in WD). VAR_044475 
VARIANT   1068   1068  1     E -> G (in WD; common mutation). VAR_009019 
VARIANT   1069   1069  1     H -> Q (in WD; common mutation). VAR_000758 
VARIANT   1083   1083  1     L -> F (in WD). VAR_000759 
VARIANT   1089   1089  1     G -> E (in WD). VAR_000760 
VARIANT   1089   1089  1     G -> V (in WD). VAR_000761 
VARIANT   1094   1094  1     F -> L (in WD). VAR_023029 
VARIANT   1095   1095  1     Q -> P (in WD). VAR_009020 
VARIANT   1098   1098  1     P -> R (in WD). VAR_023030 
VARIANT   1099   1099  1     G -> S (in WD). VAR_023031 
VARIANT   1101   1101  1     G -> R (in WD). VAR_000762 
VARIANT   1102   1102  1     I -> T (in WD). VAR_000763 
VARIANT   1104   1104  1     C -> F (in WD). VAR_009021 
VARIANT   1104   1104  1     C -> Y (in WD). VAR_044476 
VARIANT   1106   1106  1     V -> D (in WD). VAR_010017 
VARIANT   1106   1106  1     V -> I (in WD). VAR_044477 
VARIANT   1109   1109  1     V -> M. VAR_000764 
VARIANT   1111   1111  1     G -> D (in WD). VAR_023032 
VARIANT   1140   1140  1     V -> A (in dbSNP:rs1801249 [NCBI]). VAR_000765 
VARIANT   1142   1142  1     Q -> H (in WD). VAR_000766 
VARIANT   1143   1143  1     T -> N. VAR_023033 
VARIANT   1146   1146  1     V -> M (in WD). VAR_000767 
VARIANT   1148   1148  1     I -> T (in WD; dbSNP:rs60431989 [NCBI]). VAR_000768 
VARIANT   1151   1151  1     R -> H (in WD). VAR_009022 
VARIANT   1153   1153  1     W -> C (in WD). VAR_000769 
VARIANT   1153   1153  1     W -> R (in WD). VAR_010018 
VARIANT   1168   1168  1     A -> S (in WD). VAR_023034 
VARIANT   1169   1169  1     M -> T (in WD). VAR_009023 
VARIANT   1169   1169  1     M -> V (possible polymorphism). VAR_000770 
VARIANT   1173   1173  1     E -> K (in WD). VAR_009024 
VARIANT   1176   1176  1     G -> E (in WD). VAR_044478 
VARIANT   1176   1176  1     G -> R (in WD). VAR_010019 
VARIANT   1183   1183  1     A -> G (in WD). VAR_000771 
VARIANT   1183   1183  1     A -> T (in WD). VAR_000772 
VARIANT   1186   1186  1     G -> C (in WD). VAR_000773 
VARIANT   1186   1186  1     G -> S (in WD). VAR_000774 
VARIANT   1207   1207  1     H -> R (in dbSNP:rs7334118 [NCBI]). VAR_009025 
VARIANT   1213   1213  1     G -> V (in WD). VAR_000775 
VARIANT   1216   1217  2     Missing (in WD). VAR_000777
VARIANT   1216   1216  1     V -> M (in WD). VAR_000776 
VARIANT   1217   1218  2     Missing (in WD). VAR_044479
VARIANT   1220   1220  1     T -> M (in WD). VAR_000778 
VARIANT   1221   1221  1     G -> E (in WD). VAR_044480 
VARIANT   1222   1222  1     D -> N (in WD). VAR_044481 
VARIANT   1222   1222  1     D -> V (in WD). VAR_010020 
VARIANT   1222   1222  1     D -> Y (in WD). VAR_000779 
VARIANT   1232   1232  1     T -> P (in WD). VAR_023035 
VARIANT   1239   1239  1     V -> G (in WD). VAR_009026 
VARIANT   1245   1245  1     P -> S. VAR_023036 
VARIANT   1248   1248  1     K -> N (in WD). VAR_023037 
VARIANT   1252   1252  1     V -> I (in WD). VAR_044482 
VARIANT   1255   1255  1     L -> I (in WD). VAR_023038 
VARIANT   1256   1256  1     Q -> R (in WD). VAR_044483 
VARIANT   1262   1262  1     V -> F (in WD). VAR_009027 
VARIANT   1266   1266  1     G -> R (in WD; common mutation). VAR_009028 
VARIANT   1266   1266  1     G -> V (in WD). VAR_000781 
VARIANT   1267   1267  1     D -> A (in WD). VAR_000782 
VARIANT   1270   1270  1     N -> S (in WD). VAR_000783 
VARIANT   1271   1271  1     D -> N (in WD). VAR_023039 
VARIANT   1273   1273  1     P -> L (in WD). VAR_000784 
VARIANT   1278   1278  1     A -> V (in WD; uncertain pathogenicity). VAR_000785 
VARIANT   1279   1279  1     D -> G (in WD). VAR_023040 
VARIANT   1279   1279  1     D -> Y (in WD). VAR_044484 
VARIANT   1285   1292  8     Missing (in WD). VAR_000786
VARIANT   1287   1287  1     G -> S (in WD). VAR_044485 
VARIANT   1296   1296  1     D -> N (in WD). VAR_044486 
VARIANT   1297   1297  1     V -> I. VAR_009029 
VARIANT   1297   1297  1     Missing (in WD). VAR_044487
VARIANT   1305   1305  1     L -> P (in WD). VAR_023041 
VARIANT   1310   1310  1     S -> R (in WD). VAR_000787 
VARIANT   1322   1322  1     R -> P (in WD). VAR_000788 
VARIANT   1327   1327  1     L -> V (in WD). VAR_009030 
VARIANT   1331   1331  1     Y -> S (in WD). VAR_044488 
VARIANT   1336   1336  1     I -> T (in WD). VAR_023042 
VARIANT   1341   1341  1     G -> D (in WD). VAR_000789 
VARIANT   1341   1341  1     G -> S (in WD). VAR_044489 
VARIANT   1341   1341  1     G -> V (in WD). VAR_044490 
VARIANT   1352   1352  1     P -> S (in WD). VAR_044491 
VARIANT   1353   1353  1     W -> R (in WD). VAR_000790 
VARIANT   1355   1355  1     G -> C (in WD). VAR_023043 
VARIANT   1355   1355  1     G -> S (in WD). VAR_010021 
VARIANT   1358   1358  1     A -> S (in WD). VAR_000791 
VARIANT   1363   1363  1     S -> F (in WD). VAR_009031 
VARIANT   1368   1368  1     L -> P (in WD). VAR_044492 
VARIANT   1373   1373  1     L -> P (in WD). VAR_023044 
VARIANT   1373   1373  1     L -> R (in WD). VAR_023045 
VARIANT   1375   1375  1     C -> S (in WD). VAR_044493 
VARIANT   1379   1379  1     P -> S (in WD). VAR_044494 
VARIANT   1407   1407  1     D -> E. VAR_044495 
VARIANT   1434   1434  1     T -> M (in WD; dbSNP:rs60986317 [NCBI]). VAR_009032 
CONFLICT   488    488        Q -> G (in Ref. 8; AAA16173). 
CONFLICT   635    635        N -> T (in Ref. 8; AAA16173). 
CONFLICT   767    767        P -> L (in Ref. 8; AAA16173). 
CONFLICT   837    837        G -> A (in Ref. 8; AAA16173). 
STRAND   488    495  8      
STRAND   499    501  3      
HELIX   502    511  10      
STRAND   519    522  4      
TURN   523    526  4      
STRAND   527    532  6      
TURN   534    536  3      
HELIX   539    549  11      
STRAND   552    555  4      
STRAND   562    572  11      
HELIX   576    588  13      
STRAND   589    591  3      
STRAND   594    598  5      
TURN   599    602  4      
STRAND   603    607  5      
TURN   610    612  3      
HELIX   615    625  11      
STRAND   628    630  3      
STRAND   1039   1044  6      
TURN   1048   1050  3      
HELIX   1053   1064  12      
HELIX   1072   1083  12      
STRAND   1091   1097  7      
TURN   1098   1100  3      
STRAND   1101   1107  7      
HELIX   1109   1113  5      
STRAND   1127   1130  4      
STRAND   1143   1149  7      
HELIX   1151   1158  8      
HELIX   1163   1173  11      
TURN   1174   1176  3      
STRAND   1177   1184  8      
STRAND   1187   1194  8      
Sequence information
Length: 1465 AA [This is the length of the unprocessed precursor] Molecular weight: 157263 Da [This is the MW of the unprocessed precursor] CRC64: 419145448F9E959A [This is a checksum on the sequence] 
        10         20         30         40         50         60 
MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 

        70         80         90        100        110        120 
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 

       130        140        150        160        170        180 
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 

       190        200        210        220        230        240 
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 

       250        260        270        280        290        300 
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 

       310        320        330        340        350        360 
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 

       370        380        390        400        410        420 
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 

       430        440        450        460        470        480 
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 

       490        500        510        520        530        540 
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 

       550        560        570        580        590        600 
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 

       610        620        630        640        650        660 
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 

       670        680        690        700        710        720 
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK 

       730        740        750        760        770        780 
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL 

       790        800        810        820        830        840 
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP 

       850        860        870        880        890        900 
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV 

       910        920        930        940        950        960 
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH 

       970        980        990       1000       1010       1020 
ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK 

      1030       1040       1050       1060       1070       1080 
IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK 

      1090       1100       1110       1120       1130       1140 
EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV 

      1150       1160       1170       1180       1190       1200 
PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ 

      1210       1220       1230       1240       1250       1260 
EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK 

      1270       1280       1290       1300       1310       1320 
KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR 

      1330       1340       1350       1360       1370       1380 
IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD 

      1390       1400       1410       1420       1430       1440 
LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR 

      1450       1460 
HSAAADDDGD KWSLLLNGRD EEQYI
P35670 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA) 		Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Submit a homology modeling request to SWISS-MODEL
NPSA logo NPSA Sequence analysis tools

ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Hosted by ch flag SIB Switzerland Mirror sites: Australia Brazil Canada China Korea
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!