Seroatlas · Human Serome Atlas

SQSTM1

Sequestosome-1

Also known as: A170, OSIL, p60, p62, p62B, PDB3, SQSTM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13501
Gene
SQSTM1
Ensembl
ENSG00000161011
Chromosome
5
Canonical length
440 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol
Quaternary structure
Homooligomer

OverviewNCBI Gene

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. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

440 residues, UniProt reviewed canonical sequence.

>Q13501|SQSTM1
     1  MASLTVKAYL LGKEDAAREI RRFSFCCSPE PEAEAEAAAG PGPCERLLSR VAALFPALRP
    61  GGFQAHYRDE DGDLVAFSSD EELTMAMSYV KDDIFRIYIK EKKECRRDHR PPCAQEAPRN
   121  MVHPNVICDG CNGPVVGTRY KCSVCPDYDL CSVCEGKGLH RGHTKLAFPS PFGHLSEGFS
   181  HSRWLRKVKH GHFGWPGWEM GPPGNWSPRP PRAGEARPGP TAESASGPSE DPSVNFLKNV
   241  GESVAAALSP LGIEVDIDVE HGGKRSRLTP VSPESSSTEE KSSSQPSSCC SDPSKPGGNV
   301  EGATQSLAEQ MRKIALESEG RPEEQMESDN CSGGDDDWTH LSSKEVDPST GELQSLQMPE
   361  SEGPSSLDPS QEGPTGLKEA ALYPHLPPEA DPRLIESLSQ MLSMGFSDEG GWLTRLLQTK
   421  NYDIGAALDT IQYSKHPPPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SQSTM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
992 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 992 nTPM
  • adrenal gland: 417 nTPM
  • liver: 363 nTPM
  • blood vessel: 362 nTPM
  • urinary bladder: 306 nTPM
  • adipose tissue: 291 nTPM

Single-cell type

  • colonocytes: 456 nCPM
  • goblet cells: 341 nCPM
  • ocular epithelial cells: 289 nCPM
  • urothelial cells: 262 nCPM
  • epididymal efferent duct absorptive cells: 250 nCPM
  • plasma cells: 239 nCPM

Immune cell

  • basophil: 811 nTPM
  • neutrophil: 679 nTPM
  • total PBMC: 441 nTPM
  • eosinophil: 424 nTPM
  • classical monocyte: 415 nTPM
  • intermediate monocyte: 270 nTPM

Brain region

  • white matter: 313 nTPM
  • choroid plexus: 290 nTPM
  • cerebral cortex: 271 nTPM
  • thalamus: 268 nTPM
  • basal ganglia: 266 nTPM
  • medulla oblongata: 266 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SQSTM1.

Disease | AllUniProt

Conditions SQSTM1 is implicated in, by any mechanism.

  • Paget disease of bone 3 (PDB3) MIM:167250
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) MIM:616437
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (NADGP) MIM:617145
  • Myopathy, distal, with rimmed vacuoles (DMRV) MIM:617158

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 920 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.8
gnomAD pLI
0
gnomAD missense Z
-0.94
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SQSTM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SQSTM1 as an antibody target. Whether an autoantibody or antibody against SQSTM1 could matter depends on whether native SQSTM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SQSTM1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SQSTM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SQSTM1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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