KEGG   Homo sapiens (human): 538Help
Entry
538               CDS       T01001                                 

Gene name
ATP7A, DSMAX, MK, MNK, SMAX3
Definition
(RefSeq) ATPase copper transporting alpha (EC:3.6.3.54)
  KO
K17686  
Cu+-exporting ATPase [EC:3.6.3.54]
Organism
hsa  Homo sapiens (human)
Pathway
Platinum drug resistance
Mineral absorption
Disease
H00209  
Menkes disease (MD)
H00455  
Spinal muscular atrophy (SMA)
H00557  
Cutis laxa
H00856  
Distal hereditary motor neuropathies (dHMN)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Digestive system
   04978 Mineral absorption
    538 (ATP7A)
 Human Diseases
  Antineoplastic resistance
   01524 Platinum drug resistance
    538 (ATP7A)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.3  Acting on acid anhydrides to catalyse transmembrane movement of substances
    3.6.3.54  Cu+-exporting ATPase
     538 (ATP7A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq21.1
AA seq 1500 aa AA seqDB search
MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPK
TLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYP
QKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGM
TCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKK
QPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLS
ALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSS
SSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVE
YDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQD
KEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPP
MIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALA
TNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFF
CIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLC
VPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITF
FDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVE
LVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSL
LICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIG
FLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGA
QNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTA
ESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDN
NIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVN
DFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKT
ARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGT
GTDVAIEAADVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFMPI
GLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGI
DDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL
NT seq 4503 nt NT seq  +upstreamnt  +downstreamnt
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
gtagtggcaagtattgacttatcaagaaagacagtcaagaggattcggataaattttgtc
tttgctctaatttataatctggttggaattcccatagctgctggagtttttatgcccatt
ggtttggttttgcagccctggatgggatctgcagcaatggctgcttcatctgtttctgta
gtactttcttctctcttccttaaactttacaggaaaccaacttacgagagttatgaactg
cctgcccggagccagataggacagaagagtccttcagaaatcagcgttcatgttggaata
gatgatacctcaaggaattctcctaaactgggtttgctggaccggattgttaattatagc
agagcctctataaactcactactgtctgataaacgctccctaaacagtgttgttaccagt
gaacctgacaagcactcactcctggtgggagacttcagggaagatgatgacactgcatta
taa

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