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Aliases for SQSTM1 Gene

Aliases for SQSTM1 Gene

  • Sequestosome 1 2 3
  • Phosphotyrosine-Independent Ligand For The Lck SH2 Domain Of 62 KDa 3 4
  • EBI3-Associated Protein Of 60 KDa 3 4
  • Oxidative Stress Induced Like 2 3
  • Ubiquitin-Binding Protein P62 3 4
  • EBIAP 3 4
  • OSIL 3 4
  • PDB3 3 6
  • P60 3 4
  • P62 3 6
  • Phosphotyrosine Independent Ligand For The Lck SH2 Domain P62 3
  • EBI3-Associated Protein P60 3
  • Paget Disease Of Bone 3 2
  • Sequestosome-1 3
  • ZIP3 3
  • A170 3
  • P62B 3
  • ORCA 4

External Ids for SQSTM1 Gene

Previous HGNC Symbols for SQSTM1 Gene

  • PDB3
  • OSIL

Previous GeneCards Identifiers for SQSTM1 Gene

  • GC05P179360
  • GC05P180192
  • GC05P179297
  • GC05P179358
  • GC05P179359
  • GC05P179181
  • GC05P179234
  • GC05P173959

Summaries for SQSTM1 Gene

Entrez Gene Summary for SQSTM1 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]

GeneCards Summary for SQSTM1 Gene

SQSTM1 (Sequestosome 1) is a Protein Coding gene. Diseases associated with SQSTM1 include paget disease of bone and periostitis. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and protein serine/threonine kinase activity.

UniProtKB/Swiss-Prot for SQSTM1 Gene

  • Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Required both for the formation and autophagic degradation of polyubiquitin-containing bodies, called ALIS (aggresome-like induced structures) and links ALIS to the autophagic machinery. Involved in midbody ring degradation. May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels.

Gene Wiki entry for SQSTM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SQSTM1 Gene

Genomics for SQSTM1 Gene

Regulatory Elements for SQSTM1 Gene

Transcription factor binding sites by QIAGEN in the SQSTM1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SQSTM1 Gene

Start:
179,806,388 bp from pter
End:
179,838,078 bp from pter
Size:
31,691 bases
Orientation:
Plus strand

Genomic View for SQSTM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SQSTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SQSTM1 Gene

Proteins for SQSTM1 Gene

  • Protein details for SQSTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13501-SQSTM_HUMAN
    Recommended name:
    Sequestosome-1
    Protein Accession:
    Q13501
    Secondary Accessions:
    • A6NFN7
    • B2R661
    • B3KUW5
    • Q13446
    • Q9BUV7
    • Q9BVS6
    • Q9UEU1

    Protein attributes for SQSTM1 Gene

    Size:
    440 amino acids
    Molecular mass:
    47687 Da
    Quaternary structure:
    • Homooligomer or heterooligomer; may form homotypic arrays. Dimerization interferes with ubiquitin binding. Interacts directly with PRKCI and PRKCZ (Probable). Forms ternary complexes with PRKCZ and KCNAB2 or PRKCZ and GABBR3. Also interacts with KCNAB1, GABRR1, GABRR2 and GABRR3. Forms an NGF-induced complex with IKBKB, PRKCI and TRAF6 (By similarity). Interacts with EBI3, LCK, RASA1, PRKCZ, PRKCI, NR2F2, NTRK1, NTRK2, NTRK3, NBR1, MAP2K5, TRIM13, TRIM55 and MAPKAPK5. Interacts with the proteasome subunits PSMD4 and PSMC2. Interacts with K63-polyubiquitinated MAPT/TAU. Interacts with IKBKB through PRKCZ and PRKCI. Interacts with NGFR through TRAF6 and bridges that complex to NTRK1. Forms a complex with MAP2K5 and PRKCZ or PRKCI. Component of a ternary complex with PAWR and PRKCZ. Upon TNF-alpha stimulation, interacts with RIPK1 problably bridging IKBKB to the TNF-R1 complex composed of TNF-R1/TNFRSF1A, TRADD and RIPK1. Forms a complex with JUB/Ajuba, PRKCZ and TRAF6. Interacts with TRAF6 and CYLD. Identified in a complex with TRAF6 and CYLD (By similarity). Identified in a heterotrimeric complex with ubiquitin and ZFAND5, where ZFAND5 and SQSTM1 both interact with the same ubiquitin molecule. Directly interacts with MAP1LC3A and MAP1LC3B, as well as with other MAP1 LC3 family members, including GABARAP, GABARAPL1 and GABARAPL2; these interactions are necessary for the recruitment MAP1 LC3 family members to inclusion bodies containing polyubiquitinated protein aggregates and for their degradation by autophagy. Interacts with FHOD3. Interacts with TRMI5.

    Three dimensional structures from OCA and Proteopedia for SQSTM1 Gene

    Alternative splice isoforms for SQSTM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SQSTM1 Gene

Proteomics data for SQSTM1 Gene at MOPED

Post-translational modifications for SQSTM1 Gene

  • Phosphorylated. May be phosphorylated by PRKCZ (By similarity). Phosphorylated in vitro by TTN.
  • Ubiquitination at Lys141, Lys157, Lys165, Lys313, and Lys435
  • Modification sites at PhosphoSitePlus

Other Protein References for SQSTM1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SQSTM1 (SQSTM1)

No data available for DME Specific Peptides for SQSTM1 Gene

Domains for SQSTM1 Gene

Protein Domains for SQSTM1 Gene

Suggested Antigen Peptide Sequences for SQSTM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13501

UniProtKB/Swiss-Prot:

SQSTM_HUMAN :
  • Q13501
Domain:
  • The UBA domain binds specifically Lys-63-linked polyubiquitin chains of polyubiquitinated substrates. Mediates the interaction with TRIM55. Both the UBA and PB1 domains are necessary and sufficient for the localization into the ubiquitin-containing inclusion bodies
  • The PB1 domain mediates homooligomerization and interactions with FHOD3, MAP2K5, NBR1, PRKCI and PRKCZ. Both the PB1 and UBA domains are necessary and sufficient for the localization into the ubiquitin-containing inclusion bodies
  • The ZZ-type zinc finger mediates the interaction with RIPK1
  • The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins.
  • Contains 1 PB1 domain.
  • Contains 1 UBA domain.
Similarity:
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with SQSTM1: view

No data available for Gene Families for SQSTM1 Gene

Function for SQSTM1 Gene

Molecular function for SQSTM1 Gene

UniProtKB/Swiss-Prot Function:
Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Required both for the formation and autophagic degradation of polyubiquitin-containing bodies, called ALIS (aggresome-like induced structures) and links ALIS to the autophagic machinery. Involved in midbody ring degradation. May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels.
UniProtKB/Swiss-Prot Induction:
By proteasomal inhibitor PSI and prostaglandin J2 (PGJ2) (at protein level). By phorbol 12-myristate 13-acetate (PMA).

Gene Ontology (GO) - Molecular Function for SQSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity NAS 8618896
GO:0005080 protein kinase C binding IPI 14676191
GO:0005515 protein binding IPI 14676191
GO:0008270 zinc ion binding IEA --
GO:0019901 protein kinase binding IDA 8650207
genes like me logo Genes that share ontologies with SQSTM1: view
genes like me logo Genes that share phenotypes with SQSTM1: view

Animal Models for SQSTM1 Gene

MGI Knock Outs for SQSTM1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SQSTM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SQSTM1 Gene

Localization for SQSTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SQSTM1 Gene

Cytoplasm. Late endosome. Lysosome. Cytoplasmic vesicle, autophagosome. Nucleus. Endoplasmic reticulum. Cytoplasm, P-body. Note=Sarcomere (By similarity). In cardiac muscles localizes to the sarcomeric band (By similarity). Commonly found in inclusion bodies containing polyubiquitinated protein aggregates. In neurodegenerative diseases, detected in Lewy bodies in Parkinson disease, neurofibrillary tangles in Alzheimer disease, and HTT aggregates in Huntington disease. In protein aggregate diseases of the liver, found in large amounts in Mallory bodies of alcoholic and nonalcoholic steatohepatitis, hyaline bodies in hepatocellular carcinoma, and in SERPINA1 aggregates. Enriched in Rosenthal fibers of pilocytic astrocytoma. In the cytoplasm, observed in both membrane-free ubiquitin-containing protein aggregates (sequestosomes) and membrane-surrounded autophagosomes. Colocalizes with TRIM13 in the perinuclear endoplasmic reticulum. Co-localizes with TRIM5 in the cytoplasmic bodies. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SQSTM1 Gene COMPARTMENTS Subcellular localization image for SQSTM1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
endosome 5
lysosome 5
nucleus 5
vacuole 5
mitochondrion 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SQSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 pre-autophagosomal structure IEA --
GO:0000932 cytoplasmic mRNA processing body IDA 20357094
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 20168092
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with SQSTM1: view

Pathways for SQSTM1 Gene

genes like me logo Genes that share pathways with SQSTM1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for SQSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitochondrion degradation NAS 20098416
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation NAS 8618896
GO:0006511 ubiquitin-dependent protein catabolic process TAS 8702753
genes like me logo Genes that share ontologies with SQSTM1: view

Compounds for SQSTM1 Gene

(9) Novoseek inferred chemical compound relationships for SQSTM1 Gene

Compound -log(P) Hits PubMed IDs
threonine 26 1
phosphotyrosine 15 4
serine 14.9 2
tyrosine 2.83 3
oxygen 0 1
genes like me logo Genes that share compounds with SQSTM1: view

Transcripts for SQSTM1 Gene

Unigene Clusters for SQSTM1 Gene

Sequestosome 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SQSTM1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SQSTM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12 ^ 13a ·
SP1: - - - -
SP2: -
SP3: -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - -
SP8: - - -
SP9: -
SP10: -
SP11: -
SP12:
SP13: -

ExUns: 13b ^ 14a · 14b ^ 15a · 15b · 15c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SQSTM1 Gene

GeneLoc Exon Structure for
SQSTM1
ECgene alternative splicing isoforms for
SQSTM1

Expression for SQSTM1 Gene

mRNA expression in normal human tissues for SQSTM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SQSTM1 Gene

This gene is overexpressed in Muscle - Skeletal (4.5).

Protein differential expression in normal tissues for SQSTM1 Gene

This gene is overexpressed in Amniocyte (11.8) and Bone (9.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SQSTM1 Gene

SOURCE GeneReport for Unigene cluster for SQSTM1 Gene Hs.724025

mRNA Expression by UniProt/SwissProt for SQSTM1 Gene

Q13501-SQSTM_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with SQSTM1: view

Expression partners for SQSTM1 Gene

In Situ Assay Products

Orthologs for SQSTM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SQSTM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SQSTM1 35
  • 87.2 (n)
  • 92.27 (a)
SQSTM1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sqstm1 35
  • 86.06 (n)
  • 90.23 (a)
Sqstm1 16
Sqstm1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SQSTM1 35
  • 99.17 (n)
  • 99.77 (a)
SQSTM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sqstm1 35
  • 85.43 (n)
  • 90.39 (a)
dog
(Canis familiaris)
Mammalia SQSTM1 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SQSTM1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SQSTM1 35
  • 68.02 (n)
  • 65.71 (a)
SQSTM1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SQSTM1 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sqstm1 35
  • 61.42 (n)
  • 57.75 (a)
Str.5660 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64432 35
zebrafish
(Danio rerio)
Actinopterygii lck 35
sqstm1 35
  • 55.48 (n)
  • 53.43 (a)
sqstm1 36
  • 47 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7508 35
Species with no ortholog for SQSTM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SQSTM1 Gene

ENSEMBL:
Gene Tree for SQSTM1 (if available)
TreeFam:
Gene Tree for SQSTM1 (if available)

Paralogs for SQSTM1 Gene

Selected SIMAP similar genes for SQSTM1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SQSTM1 Gene

genes like me logo Genes that share paralogs with SQSTM1: view

No data available for Paralogs for SQSTM1 Gene

Variants for SQSTM1 Gene

Sequence variations from dbSNP and Humsavar for SQSTM1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs4797 -- 179,833,213(+) ATGAG(A/G)AAGAT synonymous-codon, reference
rs4935 -- 179,833,153(+) TCTGA(C/T)CCCAG reference, synonymous-codon
rs155787 -- 179,833,494(+) CATGC(A/G)TGCTC intron-variant
rs155788 -- 179,833,528(+) GGCCA(C/T)GGTCA intron-variant
rs155789 -- 179,834,682(-) gggtt(A/C/G)aatgg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SQSTM1 Gene

Variant ID Type Subtype PubMed ID
nsv883270 CNV Loss 21882294
nsv483062 CNV Loss 15286789
nsv469579 CNV Loss 16826518
dgv6400n71 CNV Loss 21882294
nsv883275 CNV Loss 21882294
nsv823361 CNV Loss 20364138
nsv883278 CNV Loss 21882294
dgv6401n71 CNV Loss 21882294
dgv6402n71 CNV Loss 21882294
esv988291 CNV Deletion 20482838

Relevant External Links for SQSTM1 Gene

HapMap Linkage Disequilibrium report
SQSTM1
Human Gene Mutation Database (HGMD)
SQSTM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SQSTM1 Gene

Disorders for SQSTM1 Gene

(1) OMIM Diseases for SQSTM1 Gene (601530)

UniProtKB/Swiss-Prot

SQSTM_HUMAN
  • Paget disease of bone (PDB) [MIM:602080]: Metabolic bone disease affecting the axial skeleton and characterized by focal areas of increased and disorganized bone turn-over due to activated osteoclasts. Manifestations of the disease include bone pain, deformity, pathological fractures, deafness, neurological complications and increased risk of osteosarcoma. PDB is a chronic disease affecting 2 to 3% of the population above the age of 40 years. {ECO:0000269 PubMed:11992264, ECO:0000269 PubMed:12374763, ECO:0000269 PubMed:14584883, ECO:0000269 PubMed:15125799, ECO:0000269 PubMed:15146436, ECO:0000269 PubMed:15176995, ECO:0000269 PubMed:15207768}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=In a cell model for Huntington disease (HD), appears to form a shell surrounding aggregates of mutant HTT that may protect cells from apoptosis, possibly by recruiting autophagosomal components to the polyubiquitinated protein aggregates.

(3) University of Copenhagen DISEASES for SQSTM1 Gene

(25) Novoseek inferred disease relationships for SQSTM1 Gene

Disease -log(P) Hits PubMed IDs
familial expansile osteolysis 73.1 1
frontotemporal dementia 73.1 1
picks disease 63.7 1
motor neuron disease 59 2
neurodegenerative diseases 52 6

Relevant External Links for SQSTM1

Genetic Association Database (GAD)
SQSTM1
Human Genome Epidemiology (HuGE) Navigator
SQSTM1
genes like me logo Genes that share disorders with SQSTM1: view

No data available for Genatlas for SQSTM1 Gene

Publications for SQSTM1 Gene

  1. Molecular cloning of a phosphotyrosine-independent ligand of the p56lck SH2 domain. (PMID: 8650207) Joung I. … Shin J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 23
  2. Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). (PMID: 15125799) Falchetti A. … Brandi M.L. (J. Bone Miner. Res. 2004) 3 4 23 48
  3. Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. (PMID: 15146436) Eekhoff E.W.M. … Papapoulos S.E. (Arthritis Rheum. 2004) 3 4 23
  4. Transcriptional activation of p62/A170/ZIP during the formation of the aggregates: possible mechanisms and the role in Lewy body formation in Parkinson's disease. (PMID: 15158159) Nakaso K. … Nakashima K. (Brain Res. 2004) 3 4 23
  5. Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease. (PMID: 15164150) Beyens G. … Van Hul W. (Calcif. Tissue Int. 2004) 3 23 48

Products for SQSTM1 Gene

Sources for SQSTM1 Gene

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