Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SQSTM1 Gene

Aliases for SQSTM1 Gene

  • Sequestosome 1 2 3 5
  • 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
  • P60 3 4
  • Phosphotyrosine Independent Ligand For The Lck SH2 Domain P62 3
  • EBI3-Associated Protein P60 3
  • Paget Disease Of Bone 3 2
  • Sequestosome-1 3
  • FTDALS3 3
  • NADGP 3
  • DMRV 3
  • ORCA 4
  • ZIP3 3
  • A170 3
  • P62B 3
  • PDB3 3
  • P62 3

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 3 and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3. Among its related pathways are Interleukin-1 signaling and Immune System. 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

Enhancers for SQSTM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F179758 1.3 Ensembl ENCODE 13.5 -43.6 -43587 8.4 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF2 ZNF143 FOS ZNF263 SP5 MAML1 CANX MGAT4B ZNF879 LOC100996419 ZNF354C LTC4S MIR1229 SQSTM1 ZFP2
GH05F179826 0.7 ENCODE 21.1 +21.1 21114 1.5 CTCF SMAD5 MAX YBX1 ZIC2 ZNF366 HDAC2 ZBTB48 POLR2A ZNF207 MRNIP SQSTM1 TBC1D9B MGAT4B MIR1229 LTC4S MAML1 GC05P179824 PIR43055 PIR32850
GH05F179753 1.1 Ensembl ENCODE 13.3 -51.7 -51682 1.8 ELF3 ARID4B RAD21 RARA MIXL1 THAP11 PAF1 CEBPB PPARG SSRP1 MAML1 LTC4S MIR1229 SQSTM1 MGAT4B CBY3 CANX HMGB3P22 TBC1D9B MRNIP
GH05F179696 1.2 ENCODE 11.5 -107.4 -107444 4.9 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MAML1 ZNF354B ZNF879 LOC105377763 ZNF454 CANX LOC100996419 MGAT4B LOC101928445 ZFP2
GH05F179852 1 Ensembl ENCODE 11.3 +46.5 46543 1.3 HDGF TBP MXI1 SAP130 ASH2L ARID4B CEBPG DMAP1 ZIC2 EGR2 MRNIP TBC1D9B MGAT4B SQSTM1 MIR1229 LTC4S MAML1 ENSG00000252202 LOC100996419 GC05M179848
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SQSTM1 on UCSC Golden Path with GeneCards custom track

Promoters for SQSTM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001298318 412 2801 HDGF ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 ZNF121 GLIS2 KLF7

Genomic Location for SQSTM1 Gene

Chromosome:
5
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

Genes around SQSTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SQSTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 probably 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. Interacts with SESN1 (PubMed:23274085). Interacts with SESN2 (PubMed:23274085, PubMed:25040165). Interacts with ULK1 (PubMed:25040165).

    Three dimensional structures from OCA and Proteopedia for SQSTM1 Gene

    Alternative splice isoforms for SQSTM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SQSTM1 Gene

Post-translational modifications for SQSTM1 Gene

  • Phosphorylated. May be phosphorylated by PRKCZ (By similarity). Phosphorylated in vitro by TTN. Phosphorylation at Ser-403 by ULK1 is stimulated by SESN2 (PubMed:25040165).
  • Ubiquitination at Lys 141, Lys 157, Lys 165, Lys 313, and Lys 435
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SQSTM1 Gene

Domains & Families for SQSTM1 Gene

Gene Families for SQSTM1 Gene

Protein Domains for SQSTM1 Gene

Suggested Antigen Peptide Sequences for SQSTM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13501

UniProtKB/Swiss-Prot:

SQSTM_HUMAN :
  • 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.
  • Contains 1 ZZ-type zinc finger.
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

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 8618896
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

Human Phenotype Ontology for SQSTM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SQSTM1 Gene

MGI Knock Outs for SQSTM1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SQSTM1 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
endosome 5
cytoskeleton 2
mitochondrion 2
plasma membrane 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 IEA,IDA 20357094
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 20168092
genes like me logo Genes that share ontologies with SQSTM1: view

Pathways & Interactions for SQSTM1 Gene

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

SIGNOR curated interactions for SQSTM1 Gene

Gene Ontology (GO) - Biological Process for SQSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000422 mitophagy NAS 20098416
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with SQSTM1: view

Drugs & Compounds for SQSTM1 Gene

(7) Drugs for SQSTM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SQSTM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

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 from GTEx, Illumina, BioGPS, and SAGE for SQSTM1 Gene

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

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for SQSTM1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SQSTM1 Gene



Protein tissue co-expression partners for SQSTM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SQSTM1 Gene:

SQSTM1

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 expression patterns with SQSTM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SQSTM1 Gene

Orthologs for SQSTM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SQSTM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SQSTM1 34 35
  • 99.17 (n)
cow
(Bos Taurus)
Mammalia SQSTM1 34 35
  • 87.2 (n)
mouse
(Mus musculus)
Mammalia Sqstm1 34 16 35
  • 86.06 (n)
rat
(Rattus norvegicus)
Mammalia Sqstm1 34
  • 85.43 (n)
dog
(Canis familiaris)
Mammalia SQSTM1 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SQSTM1 35
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves SQSTM1 34 35
  • 68.02 (n)
lizard
(Anolis carolinensis)
Reptilia SQSTM1 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sqstm1 34
  • 61.42 (n)
Str.5660 34
African clawed frog
(Xenopus laevis)
Amphibia MGC64432 34
zebrafish
(Danio rerio)
Actinopterygii sqstm1 34 35
  • 55.48 (n)
lck 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7508 34
Species where no ortholog for SQSTM1 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs104893941 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437], Paget disease of bone 3 (PDB3) [MIM:167250], Pathogenic 179,836,445(+) TGACC(C/T)GCGGC reference, missense
rs140226523 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437], Likely benign 179,833,238(+) AGGGG(C/T)GCCCT reference, missense
rs143511494 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437], Paget disease of bone 3 (PDB3) [MIM:167250] 179,836,501(+) AAGGC(A/G)GCTGG reference, missense
rs143956614 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] 179,833,725(+) ACCCC(C/T)CCCAG reference, missense
rs145056421 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] 179,824,013(+) GTAGC(A/G)TCTGC reference, missense

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

Variant ID Type Subtype PubMed ID
esv3570596 CNV loss 25503493
esv3607754 CNV loss 21293372
esv988291 CNV deletion 20482838
nsv1133621 CNV deletion 24896259
nsv469579 CNV loss 16826518
nsv478442 CNV novel sequence insertion 20440878
nsv600668 CNV loss 21841781
nsv823361 CNV loss 20364138

Variation tolerance for SQSTM1 Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SQSTM1 Gene

Human Gene Mutation Database (HGMD)
SQSTM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SQSTM1

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

Disorders for SQSTM1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for SQSTM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paget disease of bone 3
  • osteitis deformans
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • ftdals3
paget's disease of bone
  • familial paget's disease of bone
inclusion body myositis
  • distal myopathy with rimmed vacuoles
behavioral variant of frontotemporal dementia
  • bv-ftd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SQSTM_HUMAN
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients may also develop Paget disease of bone. {ECO:0000269 PubMed:22084127, ECO:0000269 PubMed:24042580, ECO:0000269 PubMed:24899140, ECO:0000269 PubMed:25114083}. 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. {ECO:0000269 PubMed:16286508}.
  • Paget disease of bone 3 (PDB3) [MIM:167250]: A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. {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.

Relevant External Links for SQSTM1

Genetic Association Database (GAD)
SQSTM1
Human Genome Epidemiology (HuGE) Navigator
SQSTM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 22 46 64
  2. 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 22 64
  3. SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone. (PMID: 20200946) Gennari L. … Mossetti G. (J. Bone Miner. Res. 2010) 3 22 46 64
  4. p62/sequestosome-1 associates with and sustains the expression of retroviral restriction factor TRIM5alpha. (PMID: 20357094) O'Connor C. … Campbell E.M. (J. Virol. 2010) 3 4 22 64
  5. p62/SQSTM1 and ALFY interact to facilitate the formation of p62 bodies/ALIS and their degradation by autophagy. (PMID: 20168092) Clausen T.H. … Johansen T. (Autophagy 2010) 3 4 22 64

Products for SQSTM1 Gene

Sources for SQSTM1 Gene

Content
Loading form....