Sequestosome 1

Alternative Names

  • SQSTM11
  • Ubiquitin-Binding Protein P62
  • P62
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OMIM Number

601530

NCBI Gene ID

8878

Uniprot ID

Q13501

Length

31,686 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Sequestosome-1

Molecular Mass

47687 Da

Amino Acid Count

440

Genomic Location

chr5:179,806,392-179,838,077

Gene Map Locus
5q35.3

Description

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_003900.4:c.311_312delUnited Arab EmiratesNC_000005.10:g.179823867_179823868delPathogenicNeurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-OnsetNG_011342.1:g.22478AG[1]; NM_003900.4:c.311_312del; NP_003891.1:p.Glu104ValfsTer48886039781265781
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