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Results for the Protein: Q04656
223590241
538

ATP7A_HUMAN RecName: Full=Copper-transporting ATPase 1; AltName: Full=Copper pump 1; AltName: Full=Menkes disease-associated protein

Known Diseases associated with this Protein:
  DISTAL SPINAL MUSCULAR ATROPHY, X-LINKED, 3 (DSMAX3)
  MENKES DISEASE (MNKD)
  OCCIPITAL HORN SYNDROME (OHS)
37
4
0
0
41
Tips:
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Default View:

CopZ - COG2608
HMA - pfam00403
HMA - cd00371
ZntA - COG2217
MgtA - COG0474
KdpB - COG2216
E1-E2_ATPase - pfam00122
Hydrolase - pfam00702
SerB - COG0560
COG4087 - COG4087


Swiss-Prot Protein: Q04656
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HMAcd003711.2e-26174237
HMAcd003711.4e-20280343
HMAcd003712.1e-28380443
HMAcd003719.6e-24491554
HMAcd003714.2e-25567630
MgtACOG04741.9e-056821500
SerBCOG05600.0003611761346
CopZCOG26082e-13777
HMApfam004036.3e-181172
CopZCOG26082.1e-13170240
HMApfam004031.9e-13174235
CopZCOG26081e-10276346
HMApfam004035.7e-17280341
CopZCOG26082.3e-17376446
HMApfam004033.3e-18380441
CopZCOG26085.8e-07487557
HMApfam004035.3e-09491552
ZntACOG22171.2e-2915631418
CopZCOG26081e-06563633
HMApfam004031.3e-15567628
KdpBCOG22161.2e-157221390
E1-E2_ATPasepfam001223.4e-727861034
Hydrolasepfam007021.1e-5410381313
COG4087COG40874.6e-0612031350

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_000699Diseasep.ALA629PROMenkes disease (MNKD)
Swiss-ProtVAR_023267Diseasep.ALA1007VALMenkes disease (MNKD)
Swiss-ProtVAR_023276Diseasep.ALA1325VALMenkes disease (MNKD)
Swiss-ProtVAR_010008Diseasep.ALA1362VALMenkes disease (MNKD)
Swiss-ProtVAR_016120Polymorphismp.ARG703HISN/A
Swiss-ProtVAR_023262Diseasep.ARG844HISMenkes disease (MNKD)
Swiss-ProtVAR_023274Diseasep.ASN1304LYSMenkes disease (MNKD)
Swiss-ProtVAR_063883Diseasep.ASN1304SEROccipital horn syndrome (OHS)
Swiss-ProtVAR_010007Diseasep.ASP1305ALAMenkes disease (MNKD)
Swiss-ProtVAR_023269Diseasep.ASP1044GLYMenkes disease (MNKD)
Swiss-ProtVAR_010003Diseasep.CYS1000ARGMenkes disease (MNKD)
Swiss-ProtVAR_023266Diseasep.GLN924ARGMenkes disease (MNKD)
Swiss-ProtVAR_023272Diseasep.GLY1255ARGMenkes disease (MNKD)
Swiss-ProtVAR_010005Diseasep.GLY1302ARGMenkes disease (MNKD)
Swiss-ProtVAR_023275Diseasep.GLY1315ARGMenkes disease (MNKD)
Swiss-ProtVAR_023279Diseasep.GLY1369ARGMenkes disease (MNKD)
Swiss-ProtVAR_000700Diseasep.GLY727ARGMenkes disease (MNKD)
Swiss-ProtVAR_023263Diseasep.GLY853ARGMenkes disease (MNKD)
Swiss-ProtVAR_023265Diseasep.GLY876ARGMenkes disease (MNKD)
Swiss-ProtVAR_023268Diseasep.GLY1015ASPMenkes disease (MNKD)
Swiss-ProtVAR_000702Diseasep.GLY1019ASPMenkes disease (MNKD)
Swiss-ProtVAR_023271Diseasep.GLY1118ASPMenkes disease (MNKD)
Swiss-ProtVAR_010004Diseasep.GLY1300GLUMenkes disease (MNKD)
Swiss-ProtVAR_010002Diseasep.GLY876GLUMenkes disease (MNKD)
Swiss-ProtVAR_010006Diseasep.GLY1302VALMenkes disease (MNKD)
Swiss-ProtVAR_023264Diseasep.GLY860VALMenkes disease (MNKD)
Swiss-ProtVAR_023278Diseasep.ILE1345PHEMenkes disease (MNKD)
Swiss-ProtVAR_016119Polymorphismp.ILE669THRN/A
Swiss-ProtVAR_016121Polymorphismp.ILE1464VALN/A
Swiss-ProtVAR_023261Diseasep.LEU706ARGMenkes disease (MNKD)
Swiss-ProtVAR_010001Diseasep.LEU873ARGMenkes disease (MNKD)
Swiss-ProtVAR_000701Diseasep.LEU1006PROMenkes disease (MNKD)
Swiss-ProtVAR_023270Diseasep.LEU1100PROMenkes disease (MNKD)
Swiss-ProtVAR_023273Diseasep.LYS1282GLUMenkes disease (MNKD)
Swiss-ProtVAR_063884Diseasep.PRO1386SERDistal spinal muscular atrophy, X-linked, 3 (DSMAX3)
Swiss-ProtVAR_023277Diseasep.SER1344ARGMenkes disease (MNKD)
Swiss-ProtVAR_009999Diseasep.SER637LEUOccipital horn syndrome (OHS)
Swiss-ProtVAR_023280Diseasep.SER1397PHEMenkes disease (MNKD)
Swiss-ProtVAR_068831Diseasep.THR1048ILEMenkes disease (MNKD)
Swiss-ProtVAR_063882Diseasep.THR994ILEDistal spinal muscular atrophy, X-linked, 3 (DSMAX3)
Swiss-ProtVAR_010000Polymorphismp.VAL767LEUN/A



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