| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 538 |
Name | ATP7A |
Synonym | DSMAX|MK|MNK|SMAX3;ATPase, Cu++ transporting, alpha polypeptide;ATP7A;ATPase, Cu++ transporting, alpha polypeptide |
Definition | Cu++-transporting P-type ATPase|Menkes disease-associated protein|copper pump 1|copper-transporting ATPase 1 |
Position | Xq21.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | copper transport II;BioCyc;PWY-6137 |
Disease | Myopathy;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Spinal muscular atrophy, distal, X-linked 3;OMIM |
Disease | Encephalopathies;FunDO |
Disease | Inherited disorders of ion transport and metabolism;KEGG DISEASE |
Disease | Ovarian cancer;FunDO |
Disease | Congenital abnormality;FunDO |
Disease | Menkes disease;OMIM |
Disease | Occipital horn syndrome;OMIM |
Disease | Menkes disease;KEGG DISEASE;H00209 |
External Links | |
Links to Entrez Gene | 538 |
Links to all GeneRIF Items | 538 |
Links to iHOP | 538 |
Sequence Information | |
Nucleotide Sequence | >538 : length: 4503 atggatccaagtatgggtgtgaattctgttaccatttctgttgagggtatgacttgcaat tcctgtgtttggaccattgagcagcagattggaaaagtgaatggtgtgcatcacattaag gtatcactggaagaaaaaaatgcaactattatttatgaccctaaactacagactccaaag accctacaggaagctattgatgacatgggctttgatgctgttatccataatcctgaccct ctccctgttttaactgacaccttgtttctgactgttacggcgtcactgactttgccatgg gaccatatccaaagcacattgctgaagaccaagggtgtgacagacattaaaatttaccct cagaaaagaactgtagcagtgacaataatcccttctatagtgaatgccaatcagataaaa gagctggttccagaactcagtttagatactgggacactggagaaaaagtcaggagcttgt gaagatcatagtatggctcaagctggtgaagtcgtgctgaagatgaaagtggaagggatg acctgccattcatgtactagcactattgaaggaaaaattgggaaactgcaaggtgttcag cgaattaaagtctccctggacaatcaagaagctactattgtttatcaacctcatcttatc tcagtagaggaaatgaaaaagcagattgaagctatgggctttccagcatttgtcaaaaag cagcccaagtacctcaaattgggagctattgatgtagaacgtctaaagaacacaccagtt aaatcctcagaagggtcacagcaaaggagtccatcatataccaatgattcaacagccact ttcatcattgatggcatgcattgtaaatcatgtgtgtcaaatattgaaagtactttatct gcactccaatatgtaagcagcatagtagtttctttagagaataggtctgccattgtgaag tataatgcaagctcagtcactccagaatccctgagaaaagcaatagaggctgtatcaccg gggctatatagagttagtatcacaagtgaagttgagagtacctcaaactctccctccagc tcatctcttcagaagattcctttgaatgtagttagccagcctctgacacaagaaactgtg ataaacattgatggcatgacttgtaattcctgtgtgcagtctattgagggtgtcatatca aaaaagccaggtgtaaaatccatacgagtctcccttgcaaatagcaatgggactgttgag tatgatcctctactaacctctccagaaacgttgagaggagcaatagaagacatgggattt gatgctaccttgtcagacacgaatgagccgttggtagtaatagctcagccttcatcggaa atgccgcttttgacttcaactaatgaattttatactaaagggatgacaccagttcaagac aaggaggaaggaaagaattcatctaagtgttacatacaggtcactggcatgacttgcgct tcctgtgtagcaaacattgaacggaatttaaggcgggaagaaggaatatattctatactt gtggccctgatggctggcaaggcagaagtaaggtataatcctgctgttatacaaccccca atgatagcagagttcatccgagaacttggatttggagccactgtgatagaaaatgctgat gaaggagatggtgttttggaacttgttgtgaggggaatgacgtgtgcctcctgcgtacat aaaatagagtctagtctcacaaaacacagagggatcctatactgctccgtggccctggca accaacaaagcacatattaaatatgacccagaaattattggtcctagagatattatccat acaattgaaagcttaggttttgaagcttctttggtcaagaaggatcggtcagcaagtcac ttagatcataaacgagaaataagacaatggagacggtcttttcttgtgagtctgtttttc tgtattcctgtaatggggctgatgatatatatgatggttatggaccaccactttgcaact cttcaccataatcaaaacatgagtaaagaagaaatgatcaaccttcattcttctatgttc ctggagcgccagattcttccaggattgtctgttatgaatttgctgtcctttttattgtgt gtacctgtacagtttttcggaggctggtacttctacattcaggcttataaagcactgaag cataagacagcaaatatggacgtactgattgtgctggcaaccaccattgcatttgcctac tctttgattattcttctagttgcaatgtatgagagagccaaagtgaaccctattactttc tttgacacaccccctatgctgtttgtgtttattgcactaggccgatggctggaacatata gcaaagggcaaaacatcagaggctcttgcaaagttaatttcactacaagctacagaagca actattgtaactcttgattctgataatatcctcctcagtgaagaacaagtggatgtggaa cttgtacaacgtggagatatcattaaagtagttccaggaggcaaatttccagtggatggt cgtgttattgaaggacattctatggtagatgagtccctcatcacaggggaggcaatgcct gtggctaagaaacctggcagcacagtgattgctggttccattaaccagaacgggtcactg cttatctgcgcaacacatgttggagcagacacaaccctttctcaaattgtcaaacttgtg gaagaggcacaaacatcaaaggctcctatccagcagtttgcagacaaactcagtggctat tttgttccttttattgtttttgtttccattgccaccctcttggtatggattgtaattgga tttctgaattttgaaattgtggaaacctactttcctggctacaatagaagtatctcccga acagaaacgataatacgatttgctttccaagcctctatcacagttctgtgtattgcatgt ccctgttcactgggactggccactccaactgctgtgatggtgggtacaggagtaggtgct caaaatggcatactaataaaaggtggagagccattggagatggctcataaggtaaaggta gtggtatttgataagactggaaccattactcacggaaccccagtggtgaatcaagtaaag gttctaactgaaagtaacagaatatcacaccataaaatcttggccattgtgggaactgct gaaagtaacagtgaacaccctctaggaacagccataaccaaatattgcaaacaggagctg gacactgaaaccttgggtacctgcatagatttccaggttgtgccaggctgtggtattagc tgtaaagtcaccaatattgaaggcttgctacataagaataactggaatatagaggacaat aatattaaaaatgcatccctggttcaaattgatgccagtaatgaacagtcatcaacttcg tcttccatgattattgatgcccagatctcaaatgctcttaatgctcagcagtataaagtc ctcattggtaaccgggagtggatgattagaaatggtcttgtcattaataacgatgtaaat gatttcatgactgaacatgagagaaaaggtcggactgctgtattagtagcagttgatgat gagctgtgtggcttgatagccattgcagacacagtgaagcctgaagcagaactggctatc catattctgaaatctatgggcttagaagtagttctgatgactggagacaacagtaaaaca gctagatctattgcttctcaggttggcattactaaggtgtttgctgaagttctaccttct cacaaggttgctaaagtgaagcaacttcaagaggaggggaaacgggtagcaatggtggga gatggaatcaatgactccccagctctggcaatggctaatgtgggaattgctattggcaca ggcacagatgtagccattgaagcagctgatgtggttttgataaggaatgatcttctggat gtagtggcaagtattgacttatcaagagagacagtcaagaggattcggataaattttgtc tttgctctaatttataatctggttggaattcccatagctgctggagtttttatgcccatt ggtttggttttgcagccctggatgggatctgcagcaatggctgcttcatctgtttctgta gtactttcttctctcttccttaaactttacaggaaaccaacttacgagagttatgaactg cctgcccggagccagataggacagaagagtccttcagaaatcagcgttcatgttggaata gatgatacctcaaggaattctcctaaactgggtttgctggaccggattgttaattatagc agagcctctataaactcactactgtctgataaacgctccctaaacagtgttgttaccagt gaacctgacaagcactcactcctggtgggagacttcagggaagatgatgacactgcatta taa |
Protein Sequence | >538 : length: 1500 MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPK TLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYP QKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGM TCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKK QPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLS ALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSS SSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVE YDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQD KEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPP MIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALA TNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFF CIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLC VPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITF FDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVE LVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSL LICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIG FLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGA QNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTA ESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDN NIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVN DFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKT ARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGT GTDVAIEAADVVLIRNDLLDVVASIDLSRETVKRIRINFVFALIYNLVGIPIAAGVFMPI GLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGI DDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL |