Protein:ATP7B |
Protein Summary |
 Gene summary |
| Gene name: ATP7B | ASpdb.0 ID: 540 | Gene | Gene symbol | ATP7B | Gene ID | 540 |
| Gene name | ATPase copper transporting beta |
| Synonyms | PWD|WC1|WD|WND |
| Cytomap | 13q14.3 |
| Type of gene | protein-coding |
| Description | copper-transporting ATPase 2ATPase, Cu(2+)- transporting, beta polypeptideATPase, Cu++ transporting, beta polypeptideWilson disease-associated proteincopper pump 2copper-transporting protein ATP7B |
| Modification date | 20240416 |
| UniProtAcc | P35670 |
| Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | ATP7B | GO:0005375 | copper ion transmembrane transporter activity | 26004889 |
| Gene | ATP7B | GO:0005507 | copper ion binding | 12029094|14709553 |
| Gene | ATP7B | GO:0005524 | ATP binding | 15205462|16567646 |
| Gene | ATP7B | GO:0005770 | late endosome | 15681833 |
| Gene | ATP7B | GO:0005794 | Golgi apparatus | - |
| Gene | ATP7B | GO:0005802 | trans-Golgi network | 15269005|16472602 |
| Gene | ATP7B | GO:0006825 | copper ion transport | 26004889 |
| Gene | ATP7B | GO:0015677 | copper ion import | 16472602 |
| Gene | ATP7B | GO:0016323 | basolateral plasma membrane | 15269005 |
| Gene | ATP7B | GO:0031410 | cytoplasmic vesicle | 16472602 |
| Gene | ATP7B | GO:0032588 | trans-Golgi network membrane | 9837819 |
| Gene | ATP7B | GO:0046688 | response to copper ion | 15269005|16472602|16939419 |
| Gene | ATP7B | GO:0048471 | perinuclear region of cytoplasm | 16939419 |
| Gene | ATP7B | GO:0051208 | sequestering of calcium ion | 16472602 |
AS Summary |
| Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| P35670-1 | P35670-1_6a71_A.pdb | 6A71 | X-ray | 1.6 | A | 357 | 428 |
| ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| P35670 | ATP7B | P35670-1 | P35670-2 | 1465 | 1258 | 624 | 785 | Deletion | none | none | 623 | 623 |
| P35670 | ATP7B | P35670-1 | P35670-2 | 1465 | 1258 | 911 | 955 | Deletion | none | none | 748 | 748 |
| P35670 | ATP7B | P35670-1 | P35670-5 | 1465 | 239 | 234 | 1465 | Substitution | RPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPLEIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYKSLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI | ETFIFC | 234 | 239 |
| Multiple sequence alignment of our canonical and alternatively spliced ATP7B |
| Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ATP7B |
| UniProt-id | ENSG | ENST | ENSP |
| P35670-1 | ENSG00000123191.17 | ENST00000242839.10 | ENSP00000242839.5 |
| P35670-2 | ENSG00000123191.17 | ENST00000674147.2 | ENSP00000500964.2 |
| UniProt-id | NM ID | NP ID |
| P35670-1 | NM_000053.3 | NP_000044.2 |
| Amino acid sequences of our canonical and alternatively spliced ATP7B |
| accession_id | Protein sequence |
| P35670-1 | MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMK VSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKS CVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTD GTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIEEIGFHAS LAQRNPNAHHLDHKMEIKQWKKSFLCSLVFGIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWLEHLAKSKTSEALAKLMSLQATEATVVTLGE DNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLA TPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMT DHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVL QPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR |
| P35670-2 | MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMK VSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKS CVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSESCSTNPLGNHSAGNSMVQTTD GTPTSVQEVAPHTGRLPANHAPDILAKSPQSTRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALATSKALVKFDPEIIGPRDIIKIIESKTSEAL AKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFPVDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGS VLIKATHVGNDTTLAQIVKLVEEAQMSKNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEM AHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVS NVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADA VKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTG TDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYK |
| P35670-5 | MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMK VSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN |
Protein Functional Features |
| Main function of this protein. (from UniProt) |
| ATP7B (go to UniProt):P35670 |
| Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P35670 | Topological domain | 1 | 653 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Topological domain | 1 | 653 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 654 | 675 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Transmembrane | 654 | 675 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 676 | 697 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Topological domain | 676 | 697 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 698 | 717 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Transmembrane | 698 | 717 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 718 | 724 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Topological domain | 718 | 724 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 725 | 745 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Transmembrane | 725 | 745 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 746 | 764 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Topological domain | 746 | 764 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 765 | 785 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=624;End=785 |
| P35670 | Transmembrane | 765 | 785 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 786 | 919 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=911;End=955 |
| P35670 | Topological domain | 786 | 919 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 920 | 942 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=911;End=955 |
| P35670 | Transmembrane | 920 | 942 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 943 | 972 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Deletion;Start=911;End=955 |
| P35670 | Topological domain | 943 | 972 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 973 | 994 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 995 | 1322 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 1323 | 1340 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 1341 | 1351 | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Transmembrane | 1352 | 1371 | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Topological domain | 1372 | 1465 | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 | Type=Substitution;Start=234;End=1465 |
| P35670 | Domain | 257 | 323 | Note=HMA 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00280 | Type=Substitution;Start=234;End=1465 |
| P35670 | Domain | 359 | 425 | Note=HMA 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00280 | Type=Substitution;Start=234;End=1465 |
| P35670 | Domain | 488 | 554 | Note=HMA 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00280 | Type=Substitution;Start=234;End=1465 |
| P35670 | Domain | 564 | 630 | Note=HMA 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00280 | Type=Deletion;Start=624;End=785 |
| P35670 | Domain | 564 | 630 | Note=HMA 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00280 | Type=Substitution;Start=234;End=1465 |
| P35670 | Region | 230 | 249 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=234;End=1465 |
| P35670 | Region | 322 | 355 | Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=234;End=1465 |
| P35670 | Compositional bias | 335 | 355 | Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite | Type=Substitution;Start=234;End=1465 |
Gene Isoform Structures and Expression Levels for ATP7B |
| Gene structures of our canonical and alternative spliced genes of ATP7B * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Expression levels of gene isoforms across GTEx. |
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| Expression levels of gene isoforms across TCGA. |
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Protein Structures |
| PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of P35670-1 |
| 3D view using mol* of P35670-2 |
| 3D view using mol* of P35670-5 |
pLDDT Score Distribution |
| pLDDT score distribution of the predicted protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of P35670-1 |
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| pLDDT distribution across the protein length of P35670-2 |
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| pLDDT distribution across the protein length of P35670-5 |
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Ramachandran Plot of Protein Structures |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of P35670-1 |
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| Ramachandran plot of P35670-2 |
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Potential Active Site Information |
| The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| P35670-1 | 1.064 | 476 | 1.045 | 1196.384 | 0.485 | 0.794 | 1.008 | 0.543 | 1.14 | 0.477 | 0.677 | 493,494,495,496,497,498,499,500,501,502,503,504,50 5,507,508,520,521,522,523,524,525,526,551,639,640, 641,642,643,645,646,649,650,713,717,724,726,727,72 8,729,730,773,774,777,778,781,782,785,788,903,906, 907,908,909,910,911,912,914,915,918,919,921,922,92 3,985,988,989,992,993,995,996,999,1010,1011,1012,1 013,1014,1359,1360,1363 |
| P35670-2 | 1.058 | 91 | 1.114 | 153.664 | 0.401 | 0.731 | 1.019 | 1.698 | 0.679 | 2.501 | 0.779 | 857,860,862,864,865,889,890,891,892,893,894,895,94 1,942,943,971,973 |
| P35670-5 | 0.504 | 10 | 0.424 | 55.909 | 0.859 | 0.625 | 0.679 | 0.341 | 0.761 | 0.448 | 0.901 | 140,141,142,144,216,217
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Protein Structure and Feature Comparision |
| Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of P35670-1_P35670-1_6a71_A.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P35670-1_6a71_A_P35670-2.pdb |
| 3D view using mol* of P35670-1_6a71_A_P35670-5.pdb |
| Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P35670-1_P35670-2.pdb |
| 3D view using mol* of P35670-1_P35670-5.pdb |
| Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/P35670-1_vs_P35670-2.png |
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| ./stats/secondary_structure/figure/P35670-1_vs_P35670-5.png |
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| Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/P35670-1_vs_P35670-2.png |
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| ./stats/relative_asa/P35670-1_vs_P35670-5.png |
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Protein-Protein Interaction |
| Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to ATP7B |
| Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
Related Diseases to ATP7B |
| Previous studies relating to the alternative splicing of ATP7B and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| ATP7B | 7833924 | Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. | Wilson disease is an autosomal recessive disorder of copper transport. Disease symptoms develop from the toxic build-up of copper primarily in the liver, and subsequently in the brain, kidney, cornea and other tissues. A candidate gene for WD (ATP7B) has recently been identified based upon apparent disease-specific mutations and a striking amino acid homology to the gene (ATP7A) responsible for another human copper transport disorder, X-linked Menkes disease (MNK). The cloning of WD and MNK genes provides the first opportunity to study copper homeostasis in humans. A preliminary analysis of the WD gene is presented which includes: isolation and characterization of the 5'-end of the gene; construction of a genomic restriction map; identification of all 21 exon/intron boundaries; characterization of extensive alternative splicing in brain; prediction of structure/function features of the WD and MNK proteins which are unique to the subset of heavy metal-transporting P-type ATPases; and comparative analysis of the six metal-binding domains. The analysis indicates that WD and MNK proteins belong to a subset of transporting ATPases with several unique features presumably reflecting their specific regulation and function. It appears that the mechanism of alternative splicing serves to regulate the amount of functional WD protein produced in brain, kidney, placenta, and possibly in liver. | D006527 | Hepatolenticular Degeneration |
Clinically important variants in ATP7B |
| (ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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