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Gene

SQSTM1

sequestosome 1

Summary

Cytogenetic location
5q35.3
Coordinates
Chromosome 5: 179,820,905–179,838,078 (GRCh38)
Exons
8 exons across 17.2 kb
Protein
440 amino acids
Inheritance
Autosomal dominant
Also known as
p62, p60, p62B, A170
Previous symbols
PDB3, OSIL
MANE Select transcript
ENST00000389805.9NM_003900.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Familial Paget Disease of Bone

    • Paget disease of bone (SQSTM1-related)Autosomal dominant

      Adult-onset Paget disease of bone caused by SQSTM1 variants, the most common genetic cause of familial Paget disease.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Paget disease usually responds well to bisphosphonate treatment, and relatives can be checked for early signs.

  • Frontotemporal Dementia

    • Autosomal dominant

      Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
    • Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAutosomal dominant

      Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SQSTM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where SQSTM1 sits. SQSTM1 and 16 genes near it on chromosome 5, from 179,329,492 to 180,329,491.Chromosome 55q35.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3179.4 Mb179.6 Mb179.8 Mb180 Mb180.2 MbADAMTS2: 179,110,853–179,345,506, reverse strandADAMTS2: 179,522,483–179,525,074, forward strandRUFY1: 179,550,542–179,610,015, forward strandRUFY1HNRNPH1: 179,614,170–179,634,784, reverse strandHNRNPH1SPATA31J1: 179,641,544–179,658,432, reverse strandSPATA31J1CBY3: 179,678,560–179,681,034, reverse strandCBY3CANX: 179,678,615–179,731,653, forward strandCANXMAML1: 179,732,672–179,777,283, forward strandMAML1LTC4S: 179,793,852–179,797,712, forward strandLTC4SMGAT4B: 179,797,597–179,806,979, reverse strandMGAT4BSQSTM1: 179,820,905–179,838,078, forward strandSQSTM1MRNIP: 179,834,406–179,862,173, reverse strandMRNIPTBC1D9B: 179,861,160–179,907,933, reverse strandTBC1D9BRNF130: 179,911,651–180,072,151, reverse strandRNF130RASGEF1C: 180,100,795–180,209,225, reverse strandRASGEF1CMAPK9: 180,233,143–180,292,107, reverse strandMAPK9GFPT2: 180,300,668–180,353,359, reverse strandGFPT2Diagram of SQSTM1: 8 exons on the forward strand of chromosome 5Exon 1: 4 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 9 known disease-causing sitesExon 7: 12 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 1: 179,820,905–179,821,141, 237 basesExon 2: 179,822,958–179,823,053, 96 basesExon 3: 179,823,858–179,824,087, 230 basesExon 4: 179,824,182–179,824,323, 142 basesExon 5: 179,825,146–179,825,226, 81 basesExon 6: 179,833,032–179,833,246, 215 basesExon 7: 179,833,587–179,833,782, 196 basesExon 8: 179,836,436–179,838,078, 1,643 bases123456785′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.8 kb of the gene's 17.2 kb; 1,323 of those bases code for the protein.

How a genome test reads SQSTM1

53

positions in SQSTM1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 17.2 kb of SQSTM1, introns included, not only the 2.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SQSTM1 gene: sequestosome 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sqstm1

Vancouver

Dante Labs. SQSTM1 gene: sequestosome 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sqstm1

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