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Results for the Protein: Q13501
74735628

SQSTM_HUMAN RecName: Full=Sequestosome-1; AltName: Full=EBI3-associated protein of 60 kDa; Short=EBIAP; Short=p60; AltName: Full=Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa; AltName: Full=Ubiquitin-binding protein p62

Known Diseases associated with this Protein:
  PAGET DISEASE OF BONE
  PAGET DISEASE OF BONE (PDB)
8
5
1
1
11
Tips:
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Default View:

PB1 - smart00666
PB1_p62 - cd06402
PB1 - cd05992
PB1 - pfam00564
ZZ - pfam00569
ZnF_ZZ - smart00291
ZZ_dah - cd02345
ZZ_HERC2 - cd02344
ZZ_Mind_bomb - cd02339
ZZ_PCMF_like - cd02338
ZZ - cd02249
ZZ_UBA_plant - cd02342
ZZ_NBR1_like - cd02340
ZZ_ZZZ3 - cd02341
ZZ_CBP - cd02337
UBA - smart00165
UBA - cd00194


Swiss-Prot Protein: Q13501
Identical to: NP_003891
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PB1_p62cd064023.5e-654102
ZZcd022493.3e-13126168
ZZ_PCMF_likecd023380.0001126168
ZZ_Mind_bombcd023398.1e-13126168
ZZ_NBR1_likecd023404.2e-24126168
ZZ_ZZZ3cd023418.7e-06126168
ZZ_UBA_plantcd023420.00013126166
ZZ_HERC2cd023440.00097126166
ZZ_dahcd023450.00047126171
ZZ_CBPcd023371.9e-06128166
UBAcd001946.4e-05394433
PB1pfam005641.9e-1120102
ZZpfam005691.3e-11122165
PB1smart006661e-323100
ZnF_ZZsmart002911.1e-17122164
UBAsmart001653e-08394432

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023590Polymorphismp.ALA117VALN/A
Swiss-ProtVAR_061707Polymorphismp.GLU274ASPN/A
Swiss-ProtVAR_023591Polymorphismp.GLU274GLNN/A
dbSNPrs61748794 Polymorphismp.GLU319LYSN/A
Swiss-ProtVAR_023598Diseasep.GLY425ARGPaget disease of bone (PDB)
Swiss-ProtVAR_023597Diseasep.GLY411SERPaget disease of bone (PDB)
Swiss-ProtVAR_068915Polymorphismp.LYS238GLUN/A
Swiss-ProtVAR_023595Diseasep.MET404THRPaget disease of bone (PDB)
Swiss-ProtVAR_023596Diseasep.MET404VALPaget disease of bone (PDB)
Swiss-ProtVAR_023592Diseasep.PRO387LEUPaget disease of bone (PDB)
Swiss-ProtVAR_023593Diseasep.PRO392LEUPaget disease of bone (PDB)
Swiss-ProtVAR_023594Diseasep.SER399PROPaget disease of bone (PDB)
OMIM601530.0001 Diseasep.PRO392LEUPAGET DISEASE OF BONE



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