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

Gene name
ATP7A, DSMAX, MK, MNK, SMAX3
Definition
(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 Hydrolase E1-E2_ATPase Hydrolase_3 Hydrolase_6 HAD_2
Other DBs
NCBI-GeneID: 538
NCBI-ProteinID: NP_000043
OMIM: 300011
HGNC: 869
Ensembl: ENSG00000165240
Vega: OTTHUMG00000021885
Pharos: Q04656(Tbio)
UniProt: Q04656 B4DRW0 Q762B6
LinkDB
Structure
PDB: 

Position
Xq21.1
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

KEGG   Homo sapiens (human): 540
Entry
540               CDS       T01001                                 

Gene name
ATP7B, PWD, WC1, WD, WND
Definition
(RefSeq) ATPase copper transporting beta
  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
H00210  Wilson disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04978 Mineral absorption
    540 (ATP7B)
 09160 Human Diseases
  09176 Drug resistance: antineoplastic
   01524 Platinum drug resistance
    540 (ATP7B)
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
     540 (ATP7B)
SSDB
Motif
Pfam: HMA Hydrolase E1-E2_ATPase Hydrolase_3 Hydrolase_6 HAD_2 HAD EBP
Other DBs
NCBI-GeneID: 540
NCBI-ProteinID: NP_000044
OMIM: 606882
HGNC: 870
Ensembl: ENSG00000123191
Vega: OTTHUMG00000017406
Pharos: P35670(Tbio)
UniProt: P35670 A0A024RDX3 B7ZLR4
LinkDB
Structure
PDB: 

Position
13q14.3
AA seq 1465 aa
MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATS
TVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG
FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN
QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN
QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVK
YDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST
TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM
GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ
STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL
EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA
TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVF
GIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK
SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWL
EHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP
VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV
KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH
ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHK
IKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK
EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAV
PQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ
EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK
KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR
IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPD
LERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR
HSAAADDDGDKWSLLLNGRDEEQYI
NT seq 4398 nt   +upstreamnt  +downstreamnt
atgcctgagcaggagagacagatcacagccagagaaggggccagtcggaaaatcttatct
aagctttctttgcctacccgtgcctgggaaccagcaatgaagaagagttttgcttttgac
aatgttggctatgaaggtggtctggatggcctgggcccttcttctcaggtggccaccagc
acagtcaggatcttgggcatgacttgccagtcatgtgtgaagtccattgaggacaggatt
tccaatttgaaaggcatcatcagcatgaaggtttccctggaacaaggcagtgccactgtg
aaatatgtgccatcggttgtgtgcctgcaacaggtttgccatcaaattggggacatgggc
ttcgaggccagcattgcagaaggaaaggcagcctcctggccctcaaggtccttgcctgcc
caggaggctgtggtcaagctccgggtggagggcatgacctgccagtcctgtgtcagctcc
attgaaggcaaggtccggaaactgcaaggagtagtgagagtcaaagtctcactcagcaac
caagaggccgtcatcacttatcagccttatctcattcagcccgaagacctcagggaccat
gtaaatgacatgggatttgaagctgccatcaagagcaaagtggctcccttaagcctggga
ccaattgatattgagcggttacaaagcactaacccaaagagacctttatcttctgctaac
cagaattttaataattctgagaccttggggcaccaaggaagccatgtggtcaccctccaa
ctgagaatagatggaatgcattgtaagtcttgcgtcttgaatattgaagaaaatattggc
cagctcctaggggttcaaagtattcaagtgtccttggagaacaaaactgcccaagtaaag
tatgacccttcttgtaccagcccagtggctctgcagagggctatcgaggcacttccacct
gggaattttaaagtttctcttcctgatggagccgaagggagtgggacagatcacaggtct
tccagttctcattcccctggctccccaccgagaaaccaggtccagggcacatgcagtacc
actctgattgccattgccggcatgacctgtgcatcctgtgtccattccattgaaggcatg
atctcccaactggaaggggtgcagcaaatatcggtgtctttggccgaagggactgcaaca
gttctttataatccctctgtaattagcccagaagaactcagagctgctatagaagacatg
ggatttgaggcttcagtcgtttctgaaagctgttctactaaccctcttggaaaccacagt
gctgggaattccatggtgcaaactacagatggtacacctacatctgtgcaggaagtggct
ccccacactgggaggctccctgcaaaccatgccccggacatcttggcaaagtccccacaa
tcaaccagagcagtggcaccgcagaagtgcttcttacagatcaaaggcatgacctgtgca
tcctgtgtgtctaacatagaaaggaatctgcagaaagaagctggtgttctctccgtgttg
gttgccttgatggcaggaaaggcagagatcaagtatgacccagaggtcatccagcccctc
gagatagctcagttcatccaggacctgggttttgaggcagcagtcatggaggactacgca
ggctccgatggcaacattgagctgacaatcacagggatgacctgcgcgtcctgtgtccac
aacatagagtccaaactcacgaggacaaatggcatcacttatgcctccgttgcccttgcc
accagcaaagcccttgttaagtttgacccggaaattatcggtccacgggatattatcaaa
attattgaggaaattggctttcatgcttccctggcccagagaaaccccaacgctcatcac
ttggaccacaagatggaaataaagcagtggaagaagtctttcctgtgcagcctggtgttt
ggcatccctgtcatggccttaatgatctatatgctgatacccagcaacgagccccaccag
tccatggtcctggaccacaacatcattccaggactgtccattctaaatctcatcttcttt
atcttgtgtacctttgtccagctcctcggtgggtggtacttctacgttcaggcctacaaa
tctctgagacacaggtcagccaacatggacgtgctcatcgtcctggccacaagcattgct
tatgtttattctctggtcatcctggtggttgctgtggctgagaaggcggagaggagccct
gtgacattcttcgacacgccccccatgctctttgtgttcattgccctgggccggtggctg
gaacacttggcaaagagcaaaacctcagaagccctggctaaactcatgtctctccaagcc
acagaagccaccgttgtgacccttggtgaggacaatttaatcatcagggaggagcaagtc
cccatggagctggtgcagcggggcgatatcgtcaaggtggtccctgggggaaagtttcca
gtggatgggaaagtcctggaaggcaataccatggctgatgagtccctcatcacaggagaa
gccatgccagtcactaagaaacccggaagcactgtaattgcggggtctataaatgcacat
ggctctgtgctcattaaagctacccacgtgggcaatgacaccactttggctcagattgtg
aaactggtggaagaggctcagatgtcaaaggcacccattcagcagctggctgaccggttt
agtggatattttgtcccatttatcatcatcatgtcaactttgacgttggtggtatggatt
gtaatcggttttatcgattttggtgttgttcagagatactttcctaaccccaacaagcac
atctcccagacagaggtgatcatccggtttgctttccagacgtccatcacggtgctgtgc
attgcctgcccctgctccctggggctggccacgcccacggctgtcatggtgggcaccggg
gtggccgcgcagaacggcatcctcatcaagggaggcaagcccctggagatggcgcacaag
ataaagactgtgatgtttgacaagactggcaccattacccatggcgtccccagggtcatg
cgggtgctcctgctgggggatgtggccacactgcccctcaggaaggttctggctgtggtg
gggactgcggaggccagcagtgaacaccccttgggcgtggcagtcaccaaatactgtaaa
gaggaacttggaacagagaccttgggatactgcacggacttccaggcagtgccaggctgt
ggaattgggtgcaaagtcagcaacgtggaaggcatcctggcccacagtgagcgccctttg
agtgcaccggccagtcacctgaatgaggctggcagccttcccgcagaaaaagatgcagtc
ccccagaccttctctgtgctgattggaaaccgtgagtggctgaggcgcaacggtttaacc
atttctagcgatgtcagtgacgctatgacagaccacgagatgaaaggacagacagccatc
ctggtggctattgacggtgtgctctgtgggatgatcgcaatcgcagacgctgtcaagcag
gaggctgccctggctgtgcacacgctgcagagcatgggtgtggacgtggttctgatcacg
ggggacaaccggaagacagccagagctattgccacccaggttggcatcaacaaagtcttt
gcagaggtgctgccttcgcacaaggtggccaaggtccaggagctccagaataaagggaag
aaagtcgccatggtgggggatggggtcaatgactccccggccttggcccaggcagacatg
ggtgtggccattggcaccggcacggatgtggccatcgaggcagccgacgtcgtccttatc
agaaatgatttgctggatgtggtggctagcattcacctttccaagaggactgtccgaagg
atacgcatcaacctggtcctggcactgatttataacctggttgggatacccattgcagca
ggtgtcttcatgcccatcggcattgtgctgcagccctggatgggctcagcggccatggca
gcctcctctgtgtctgtggtgctctcatccctgcagctcaagtgctataagaagcctgac
ctggagaggtatgaggcacaggcgcatggccacatgaagcccctgacggcatcccaggtc
agtgtgcacataggcatggatgacaggtggcgggactcccccagggccacaccatgggac
caggtcagctatgtcagccaggtgtcgctgtcctccctgacgtccgacaagccatctcgg
cacagcgctgcagcagacgatgatggggacaagtggtctctgctcctgaatggcagggat
gaggagcagtacatctga

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