KEGG   Homo sapiens (human): 538
Entry
538               CDS       T01001                                 
Symbol
ATP7A, DSMAX, HMNX, MK, MNK, SMAX3
Name
(RefSeq) ATPase copper transporting alpha
  KO
K17686  P-type Cu+ transporter [EC:7.2.2.8]
Organism
hsa  Homo sapiens (human)
Pathway
hsa01524  Platinum drug resistance
hsa04978  Mineral absorption
Disease
H00209  Menkes syndrome
H00455  Spinal muscular atrophy
H00856  Distal hereditary motor neuropathies
H01859  Occipital horn syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04978 Mineral absorption
    538 (ATP7A)
 09160 Human Diseases
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    538 (ATP7A)
Enzymes [BR:hsa01000]
 7. Translocases
  7.2  Catalysing the translocation of inorganic cations
   7.2.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.2.2.8  P-type Cu+ transporter
     538 (ATP7A)
SSDB
Motif
Pfam: HMA E1-E2_ATPase Hydrolase Hydrolase_3 Hydrolase_6 HAD_2
Other DBs
NCBI-GeneID: 538
NCBI-ProteinID: NP_000043
OMIM: 300011
HGNC: 869
Ensembl: ENSG00000165240
UniProt: Q04656 B4DRW0 Q762B6
Structure
Position
X:77910693..78050395
AA seq 1500 aa
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   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (25)   
   RefSeq(nuc) (3)   
   GenBank (11)   
   EMBL (11)   
3D Structure (22)   
   PDB (22)   
Protein domain (6)   
   Pfam (6)   
All databases (88)   

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