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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SQSTM1 Gene

protein-coding   GIFtS: 69
GCID: GC05P179234

Sequestosome 1

(Previous names: Paget disease of bone 3, oxidative stress induced like)
(Previous symbols: PDB3, OSIL)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sequestosome 11 2     A1702
OSIL1 2 3     ZIP32
PDB31 2 5     EBI3-Associated Protein P602
Oxidative Stress Induced Like1 2     p622
Phosphotyrosine-Independent Ligand For The Lck SH2 Domain Of 62 KDa2 3     p62B2
Ubiquitin-Binding Protein P622 3     Phosphotyrosine Independent Ligand For The Lck SH2 Domain P622
EBIAP2 3     sequestosome-12
EBI3-Associated Protein Of 60 KDa2 3     ORCA3
p602 3     P625
Paget Disease Of Bone 31     

External Ids:    HGNC: 112801   Entrez Gene: 88782   Ensembl: ENSG000001610117   OMIM: 6015305   UniProtKB: Q135013   

Export aliases for SQSTM1 gene to outside databases

Previous GC identifers: GC05P179360 GC05P180192 GC05P179297 GC05P179358 GC05P179359 GC05P179181 GC05P173959


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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's disease of bone, and frontotemporal lobar degeneration with ubiquitin-positive inclusions, and among its related super-pathways are IL1-mediated signaling events and p75NTR signals via NF-kB. GO annotations related to this gene include protein serine/threonine kinase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: SQSTM_HUMAN, Q13501
Function: Required both for the formation and autophagic degradation of polyubiquitin-containing bodies, called
ALIS (aggresome-like induced structures). Links ALIS to the autophagic machinery via direct interaction with MAP1
LC3 family members. 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 (Sequestosome 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SQSTM1 gene promoter:
         Sp1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): SQSTM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SQSTM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SQSTM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35

SQSTM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SQSTM1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P179234:  view genomic region     (about GC identifiers)

Start:
179,233,388 bp from pter      End:
179,265,078 bp from pter
Size:
31,691 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SQSTM_HUMAN, Q13501 (See protein sequence)
Recommended Name: Sequestosome-1  
Size: 440 amino acids; 47687 Da
Subunit: 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
Subcellular location: 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
5 PDB 3D structures from and Proteopedia for SQSTM1:
1Q02 (3D)        2JY7 (3D)        2JY8 (3D)        2K0B (3D)        2KNV (3D)    
Secondary accessions: A6NFN7 B2R661 B3KUW5 Q13446 Q9BUV7 Q9BVS6 Q9UEU1
Alternative splicing: 2 isoforms:  Q13501-1   Q13501-2   

Explore the universe of human proteins at neXtProt for SQSTM1: NX_Q13501

Explore proteomics data for SQSTM1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. May be phosphorylated by PRKCZ (By similarity). Phosphorylated in vitro by TTN
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13501

  • SQSTM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SQSTM1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001135770.1  NP_001135771.1  NP_003891.1  

    ENSEMBL proteins: 
     ENSP00000427308   ENSP00000394534   ENSP00000374455   ENSP00000424195   ENSP00000405061  
     ENSP00000425957   ENSP00000424477   ENSP00000353944   ENSP00000366128   ENSP00000385553  
    Reactome Protein details: Q13501
    Human Recombinant Protein Products for SQSTM1: 
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    Novus Biologicals SQSTM1 Proteins
    Novus Biologicals SQSTM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SQSTM1
    Cloud-Clone Corp. Proteins for SQSTM1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000407pre-autophagosomal structure IEA--
    GO:0000932cytoplasmic mRNA processing body IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005764lysosome IEA--
    GO:0005770late endosome IEA--

    SQSTM1 for ontologies           About GeneDecksing



    SQSTM1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000270 OPR_PB1
     IPR015940 UBA/transl_elong_EF1B_N_euk
     IPR000433 Znf_ZZ
     IPR009060 UBA-like

    Graphical View of Domain Structure for InterPro Entry Q13501

    ProtoNet protein and cluster: Q13501

    2 Blocks protein domains:
    IPB000270 Octicosapeptide/Phox/Bem1p
    IPB000433 Zn-finger


    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 OPR domains are necessary and sufficient for the
    localization into the ubiquitin-containing inclusion bodies
    Domain: The OPR domain mediates homooligomerization and interactions with FHOD3, MAP2K5, NBR1, PRKCI and PRKCZ.
    Both the OPR and UBA domains are necessary and sufficient for the localization into the ubiquitin-containing
    inclusion bodies
    Domain: The ZZ-type zinc finger mediates the interaction with RIPK1
    Similarity: Contains 1 OPR domain
    Similarity: Contains 1 UBA domain
    Similarity: Contains 1 ZZ-type zinc finger


    SQSTM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SQSTM_HUMAN, Q13501
    Function: Required both for the formation and autophagic degradation of polyubiquitin-containing bodies, called
    ALIS (aggresome-like induced structures). Links ALIS to the autophagic machinery via direct interaction with MAP1
    LC3 family members. 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
    Induction: By proteasomal inhibitor PSI and prostaglandin J2 (PGJ2) (at protein level). By phorbol 12-myristate
    13-acetate (PMA)

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity NAS8618896
    GO:0005080protein kinase C binding IPI14676191
    GO:0005515protein binding IPI14676191
    GO:0008270zinc ion binding IEA--
    GO:0019901protein kinase binding IDA8650207
         
    SQSTM1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SQSTM1:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Sqstm1):
     adipose tissue  behavior/neurological  cellular  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  skeleton 

    SQSTM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SQSTM1: Sqstm1tm1Keta Sqstm1tm1Jmos Sqstm1tm1Hwl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SQSTM1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SQSTM1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SQSTM1 

    miRNA
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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate SQSTM1 (see all 20):
    hsa-miR-520e hsa-miR-302d hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372 hsa-miR-93 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidSQSTM1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SQSTM1 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Interleukin-1 signaling
    IL1-mediated signaling events0.39
    Interleukin-1 signaling0.39
    2p75NTR signals via NF-kB
    p75NTR signals via NF-kB0.81
    p75NTR recruits signalling complexes0.81
    NF-kB is activated and signals survival0.81
    NRIF signals cell death from the nucleus0.40
    3Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    4Signaling by FGFR
    Signalling by NGF0.71
    5Interferon Signaling
    Cytokine Signaling in Immune system0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SQSTM1
        Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
    Signal transduction Activation of PKC via G-Protein coupled receptor


    3 Cell Signaling Technology (CST) Pathways for SQSTM1
        Apoptosis and Autophagy
    Translational Control
    Protein Stability

    2 GeneGo (Thomson Reuters) Pathways for SQSTM1
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    5/7 BioSystems Pathways for SQSTM1 (see all 7)
        Senescence and Autophagy
    BDNF signaling pathway
    RANKL/RANK Signaling Pathway
    p75(NTR)-mediated signaling
    TNF receptor signaling pathway

    5/12        Reactome Pathways for SQSTM1 (see all 12)
        NRIF signals cell death from the nucleus
    p75NTR recruits signalling complexes
    Cytokine Signaling in Immune system
    Cell death signalling via NRAGE, NRIF and NADE
    p75NTR signals via NF-kB


    1         Kegg Pathway  (Kegg details for SQSTM1):
        Osteoclast differentiation


    SQSTM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SQSTM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1077 Interacting proteins for SQSTM1 (Q135011, 2, 3 ENSP000003744554) via UniProtKB, MINT, STRING, and/or I2D (see all 1077)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081072, 3MINT-8378890 MINT-7264704 I2D: score=1 
    ENSG00000215328P081072, 3MINT-8378890 MINT-7264704 I2D: score=1 
    ENSG00000224501P081072, 3MINT-8378890 MINT-7264704 I2D: score=1 
    ENSG00000231555P081072, 3MINT-8378890 MINT-7264704 I2D: score=1 
    ENSG00000232804P081072, 3MINT-8378890 MINT-7264704 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IEA--
    GO:0006511ubiquitin-dependent protein catabolic process TAS8702753
    GO:0006914autophagy TAS19816510
    GO:0006950response to stress TAS12857745
    GO:0008104protein localization TAS8650207

    SQSTM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SQSTM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SQSTM1 (SQSTM)

    9 Novoseek inferred chemical compound relationships for SQSTM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 26 1 8618896 (1)
    phosphotyrosine 15 4 8618896 (2), 10714219 (2)
    serine 14.9 2 11078718 (1), 8618896 (1)
    tyrosine 2.83 3 8720131 (1), 10714219 (1), 7545165 (1)
    oxygen 0 1 19524509 (1)
    nadph 0 1 12887891 (1)
    zinc 0 1 19850933 (1)
    potassium 0 1 16085361 (1)
    norepinephrine 0 2 16085361 (2)

    Search CenterWatch for drugs/clinical trials and news about SQSTM1 / SQSTM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for SQSTM1 gene (3 alternative transcripts): 
    NM_001142298.1  NM_001142299.1  NM_003900.4  

    Unigene Cluster for SQSTM1:

    Sequestosome 1
    Hs.724025  [show with all ESTs]
    Unigene Representative Sequence: NM_001142298
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000506042 ENST00000514093 ENST00000506690(uc003mkt.1) ENST00000512234
    ENST00000422245 ENST00000481335 ENST00000464493 ENST00000389805(uc003mkw.4 uc003mkx.3)
    ENST00000508284 ENST00000453046 ENST00000504627 ENST00000510187 ENST00000360718
    ENST00000485412 ENST00000466342 ENST00000376929(uc011dgr.2 uc011dgs.2)
    ENST00000402874
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK025146.1 AK093109.1 AK096257.1 AK226167.1 AK304877.1 AK312451.1 BC000951.2 BC001874.1 
    BC003139.1 BC005857.2 BC017222.1 BC019111.1 BC050631.1 U41806.1 U46751.1 

    24/97 DOTS entries (see all 97):

    DT.100714860  DT.100714884  DT.120832847  DT.120832863  DT.91650906  DT.95174525  DT.100060429  DT.92475216 
    DT.100714845  DT.86857002  DT.100714854  DT.95174562  DT.100638678  DT.100714890  DT.100714841  DT.97868381 
    DT.120832828  DT.95332055  DT.120832773  DT.95174272  DT.120832783  DT.120832853  DT.95174385  DT.92475129 

    24/1474 AceView cDNA sequences (see all 1474):

    BE278855 BM665593 U46751 BQ671822 CB125609 CA390446 BU171920 BM699883 
    BF718482 BE276841 BQ224352 BE384943 CA395563 BM800056 BG261294 BM989080 
    AW069802 BQ050103 AI950846 BU162866 BE835215 CB107668 CB152232 CD722114 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SQSTM1 (see all 13)    About this scheme

    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:                    -     -     -     -     -     -     -           -                                                                                       

    ExUns: 13b ^ 14a · 14b ^ 15a · 15b · 15c
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for SQSTM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SQSTM1 expression in normal human tissues (normalized intensities)      SQSTM1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGGAGGGT
    SQSTM1 Expression
    About this image


    SQSTM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 15 entries
             Multinuclear Myocytes Lumbar Back Muscles
             skeletal muscle ; myocytes   
     
     Uterus
             uterus, post-menopause ; glandular cells   
             endometrial endothelial cell   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Hippocampus

    See SQSTM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SQSTM1

    SOURCE GeneReport for Unigene cluster: Hs.724025

    UniProtKB/Swiss-Prot: SQSTM_HUMAN, Q13501
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including SQSTM1: 
              Oxidative Stress in human mouse rat
              Autophagy in human mouse rat
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SQSTM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SQSTM1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sqstm11 , 5 sequestosome 11, 5 86.74(n)1
    91.14(a)1
      11 (30.36 cM)5
    184121  NM_011018.21  NP_035148.11 
     501993665 
    chicken
    (Gallus gallus)
    Aves SQSTM11 sequestosome 1 67.7(n)
    66.19(a)
      770805  XM_001233248.2  XP_001233249.2 
    lizard
    (Anolis carolinensis)
    Reptilia SQSTM16
    Uncharacterized protein
    48(a)
    1 ↔ 1
    2(140132967-140144553)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644322 hypothetical protein MGC64432 75.86(n)    BC056852.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lck2 lck 76.47(n)   30099  CD759371.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ref(2)P1 refractory to sigma P 41.7(n)
    28(a)
      35246  NM_001014491.1  NP_001014491.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SQSTM1 gene
    2 SIMAP similar genes for SQSTM1 using alignment to 7 protein entries:     SQSTM_HUMAN (see all proteins):
    SQSTM1-ALK    OSIL

    SQSTM1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SQSTM1
    PGOHUM00000248416 PGOHUM00000248617


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/857 SNPs in SQSTM1 are shown (see all 857)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0235984
    Paget disease of bone (PDB)4--see VAR_0235982 G R mis40--------
    VAR_0235944
    Paget disease of bone (PDB)4--see VAR_0235942 S P mis40--------
    VAR_0235954
    Paget disease of bone (PDB)4--see VAR_0235952 M T mis40--------
    VAR_0235964
    Paget disease of bone (PDB)4--see VAR_0235962 M V mis40--------
    VAR_0235974
    Paget disease of bone (PDB)4--see VAR_0235972 G S mis40--------
    VAR_0235924
    Paget disease of bone (PDB)4--see VAR_0235922 P L mis40--------
    rs1048939411,2,4
    C,FPaget disease of bone (PDB)4 pathogenic1179263445(+) TGACCC/TGCGGC 6 P L mis12Minor allele frequency- T:0.00NA EU 5871
    VAR_0235914
    ----see VAR_0235912 E Q mis40--------
    rs1928321351,2
    --179236018(+) ACGCTC/TGGCTG 2 -- int10--------
    rs1852151091,2
    --179236232(+) CGGCTC/TACTGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for SQSTM1 (179233388 - 179265078 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SQSTM1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv988291CNV Deletion20482838
    nsv823361CNV Loss20364138
    nsv883270CNV Loss21882294
    nsv469579CNV Loss16826518
    nsv883278CNV Loss21882294
    nsv483062CNV Loss15286789
    dgv6401n71CNV Loss21882294
    dgv6402n71CNV Loss21882294
    nsv883275CNV Loss21882294
    dgv6400n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): SQSTM1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SQSTM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601530   
    OMIM disorders: 602080  
    UniProtKB/Swiss-Prot: SQSTM_HUMAN, Q13501
  • 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. 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
    polyubiquitinylated protein aggregates

  • 20/55 diseases for SQSTM1 (see all 55):    About MalaCards
    paget's disease of bone    frontotemporal lobar degeneration with ubiquitin-positive inclusions    mycobacterium abscessus    myotilinopathy
    mammary paget's disease    multiple system atrophy    frontotemporal dementia    benign meningioma
    motor neuron disease    periostitis    pick's disease    dementia
    inclusion body myositis    tauopathy    nonalcoholic steatohepatitis    pilocytic astrocytoma
    myositis    brain disease    polymyositis    amyotrophic lateral sclerosis

    3 diseases from the University of Copenhagen DISEASES database for SQSTM1:
    Paget's disease of bone     Mammary Paget's disease     Frontotemporal dementia

    SQSTM1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/25 Novoseek inferred disease relationships for SQSTM1 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial expansile osteolysis 73.1 1 17284635 (1)
    frontotemporal dementia 73.1 1 18379439 (1)
    picks disease 63.7 1 11447312 (1)
    motor neuron disease 59 2 18992722 (1), 18379439 (1)
    neurodegenerative diseases 52 7 16820172 (1), 19200883 (1), 14762676 (1), 19557423 (1) (see all 6)
    amyotrophic lateral sclerosis 48.5 2 16820172 (1), 14762676 (1)
    paired helical filament 47.6 1 11447312 (1)
    neurofibrillary tangles 42 4 14762676 (1), 19557423 (1), 11786419 (1)
    hepatocellular carcinoma 40.9 15 14613989 (2), 14514377 (2), 11549587 (1), 15886058 (1) (see all 8)
    hepatitis alcoholic 39.1 1 15964033 (1)

    Genetic Association Database (GAD): SQSTM1
    Human Genome Epidemiology (HuGE) Navigator: SQSTM1 (13 documents)

    Export disorders for SQSTM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SQSTM1 gene, integrated from 9 sources (see all 359):
    (articles sorted by number of sources associating them with SQSTM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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). (PubMed id 15125799)1, 2, 4, 9 Falchetti A.... Brandi M.L. (2004)
    2. Molecular cloning of a phosphotyrosine-independent ligand of the p56lck SH2 wdomain. (PubMed id 8650207)1, 2, 3, 9 Joung I.... Shin J. (1996)
    3. A novel interleukin-12 p40-related protein induced by latent Epstein- Barr virus infection in B lymphocytes. (PubMed id 8551575)1, 2, 3 Devergne O.... Birkenbach M. (1996)
    4. Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. (PubMed id 14584883)1, 2, 9 Johnson-Pais T.L.... Leach R.J. (2003)
    5. p62 overexpression in breast tumors and regulation by prostate- derived Ets factor in breast cancer cells. (PubMed id 12700667)1, 2, 9 Thompson H.G.R.... Brody J.P. (2003)
    6. p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. (PubMed id 16286508)1, 2, 9 Bjorkoy G....Johansen T. (2005)
    7. 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. (PubMed id 15158159)1, 2, 9 Nakaso K.... Nakashima K. (2004)
    8. Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone. (PubMed id 12857745)1, 2, 9 Ciani B.... Searle M.S. (2003)
    9. The interaction of p62 with RIP links the atypical PKCs to NF-kappaB activation. (PubMed id 10356400)1, 2, 9 Sanz L.... Moscat J. (1999)
    10. SQSTM1 gene analysis and gene-environment interaction in paget's disease of bone. (PubMed id 20200946)1, 4, 9 Gennari L....Mossetti G. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8878 HGNC: 11280 AceView: SQSTM1 Ensembl:ENSG00000161011 euGenes: HUgn8878
    ECgene: SQSTM1 Kegg: 8878 H-InvDB: SQSTM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SQSTM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SQSTM1 gene:
    Search GeneIP for patents involving SQSTM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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