| |
|---|---|
| Accession Number: | P35670 |
| Protein Name: | AT7B aka ATP7B aka WND aka PWD aka WC1 |
| Length: | 1465 |
| Molecular Weight: | 157263.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 11 |
| Location1 / Topology2 / Orientation3: | Mitochondrion1 |
| Substrate | iron(2+), copper(1+), silver(1+), cisplatin |
Cross database links:
| RefSeq: | NP_000044.2 NP_001005918.1 |
|---|---|
| Entrez Gene ID: | 540 |
| Pfam: | PF00122 PF00403 PF00702 |
| OMIM: |
277900 phenotype 606882 gene |
| KEGG: | hsa:540 |
Gene Ontology
GO:0005887
C:integral to plasma membrane
GO:0005770
C:late endosome
GO:0005739
C:mitochondrion
GO:0005524
F:ATP binding
GO:0005507
F:copper ion binding
GO:0004008
F:copper-exporting ATPase activity
GO:0005515
F:protein binding
GO:0006754
P:ATP biosynthetic process
GO:0006878
P:cellular copper ion homeostasis
GO:0015677
P:copper ion import
GO:0046688
P:response to copper ion
GO:0051208
P:sequestering of calcium ion
| |
References (58)[1] “Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.” Petrukhin K.et.al. 7833924 [2] “The DNA sequence and analysis of human chromosome 13.” Dunham A.et.al. 15057823 [3] “Cloning and characterization of the promoter region of the Wilson disease gene.” Oh W.J.et.al. 10334941 [4] “The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.” Bull P.C.et.al. 8298639 [5] “The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.” Tanzi R.E.et.al. 8298641 [6] “Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.” Yamaguchi Y.et.al. 8250934 [7] “The Wilson disease gene: spectrum of mutations and their consequences.” Thomas G.R.et.al. 7626145 [8] “Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.” Yang X.-L.et.al. 9307043 [9] “Localization of the Wilson's disease protein product to mitochondria.” Lutsenko S.et.al. 9600907 [10] “The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.” Tao T.Y.et.al. 12968035 [11] “Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.” Figus A.et.al. 8533760 [12] “Efficient detection of mutations in Wilson disease by manifold sequencing.” Waldenstroem E.et.al. 8938442 [13] “Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.” Loudianos G.et.al. 8931691 [14] “High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.” Chuang L.-M.et.al. 8782057 [15] “Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.” Shah A.B.et.al. 9311736 [16] “Identification of a novel missense mutation in Wilson's disease gene.” Fan Y.et.al. 9772425 [17] “24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.” Orru S.et.al. 9222767 [18] “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.” Kemppainen R.et.al. 8980283 [19] “His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.” Ha-Hao D.et.al. 9887381 [20] “Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.” Kalinsky H.et.al. 9482578 [21] “Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.” Kim E.K.et.al. 9554743 [22] “Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.” Yamaguchi A.et.al. 9452121 [23] “Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.” Loudianos G.et.al. 9671269 [24] “Mutation analysis of Wilson disease in Taiwan and description of six new mutations.” Tsai C.-H.et.al. 9829905 [25] “Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients.” Wu Z.et.al. 10194254 [26] “Mutation analysis in patients with Wilson disease: identification of 4 novel mutations.” Haas R.et.al. 10447265 [27] “Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect.” Loudianos G.et.al. 10502776 [28] “A study of Wilson disease mutations in Britain.” Curtis D.et.al. 10502777 [29] “The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.” Ivanova-Smolenskaya I.A.et.al. 10051024 [30] “Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.” Loudianos G.et.al. 10544227 [31] “Molecular analysis and diagnosis in Japanese patients with Wilson's disease.” Shimizu N.et.al. 10453196 [32] “Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.” Loudianos G.et.al. 11216666 [33] “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.” Garcia-Villarreal L.et.al. 11093740 [34] “Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.” Okada T.et.al. 10790207 [35] “Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.” Kusuda Y.et.al. 10721669 [36] “Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.” Lee C.C.et.al. 11043508 [37] “Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.” Genschel J.et.al. 11180609 [38] “High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.” Caca K.et.al. 11690702 [39] “Molecular diagnosis of Wilson disease.” Butler P.et.al. 11243728 [40] “Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.” Ohya K.et.al. 11954751 [41] “Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.” Yoo H.-W.et.al. 12544487 [42] “Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.” Loudianos G.et.al. 12325021 [43] “Two families with Wilson disease in which siblings showed different phenotypes.” Takeshita Y.et.al. 12376745 [44] “Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.” Gu Y.-H.et.al. 14986826 [45] “A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.” Majumdar R.et.al. 14639035 [46] “Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.” Deguti M.M.et.al. 15024742 [47] “Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.” Pendlebury S.T.et.al. 15557537 [48] “Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.” Liu X.-Q.et.al. 14966923 [49] “Wilson disease: high prevalence in a mountainous area of Crete.” Dedoussis G.V.Z.et.al. 15845031 [50] “Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.” Kumar S.et.al. 15811015 [51] “Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene.” Margarit E.et.al. 15952988 [52] “Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.” Todorov T.et.al. 16207219 [53] “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.” Gromadzka G.et.al. 16283883 [54] “Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.” Cox D.W.et.al. 16088907 | |
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| FASTA formatted sequence |
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1: MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 61: TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 121: FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 181: QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 241: QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 301: YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 361: TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 421: GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 481: STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 541: EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 601: TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 661: GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK 721: SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL 781: EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP 841: VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV 901: KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH 961: ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK 1021: IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK 1081: EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV 1141: PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ 1201: EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK 1261: KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR 1321: IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD 1381: LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR 1441: HSAAADDDGD KWSLLLNGRD EEQYI