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

SQSTM1 Gene

protein-coding   GIFtS: 68
GCID: GC05P179234

sequestosome 1

(Previous names: Paget disease of bone 3, oxidative stress induced like...)
(Previous symbols: PDB3, OSIL)
 Explore 46 diseases affiliated with
SQSTM1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for SQSTM1    

Aliases
for SQSTM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sequestosome 11 2     EBIAP2 3
OSIL1 2 3     EBI3-Associated Protein Of 60 KDa2 3
P601     Paget Disease Of Bone 31
PDB31 2 5     ZIP32
A1701 2     EBI3-Associated Protein P602
Oxidative Stress Induced Like1 2     Phosphotyrosine Independent Ligand For The Lck SH2 Domain P622
P625     Sequestosome-11
P62B1     ORCA3
Phosphotyrosine-Independent Ligand For The Lck SH2 Domain Of 62 KDa2 3     P625
Ubiquitin-Binding Protein P622 3     

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


Summaries
for SQSTM1 gene

(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:
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)

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)


Genomic Views
for SQSTM1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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

Proteins
for SQSTM1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated. May be phosphorylated by PRKCZ (By similarity). Phosphorylated in vitro by TTN1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13501

    • SQSTM1 Protein expression data from MOPED and PaxDb:    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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    Enzo Life Sciences proteins for SQSTM1
    OriGene Purified Protein: SQSTM1
    OriGene Protein Over-expression Lysate: SQSTM1
    OriGene Custom Protein Services for SQSTM1 
    GenScript Custom Purified and Recombinant Proteins Services for SQSTM1
    Novus Biologicals SQSTM1 Proteins
    Novus Biologicals SQSTM1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SQSTM1
    Uscn Proteins for SQSTM1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SQSTM1
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    Cell Signaling Technology (CST) Antibodies for SQSTM1 
    OriGene Antibodies (see all 17): SQSTM1
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    Novus Biologicals SQSTM1 Antibodies
    Abcam antibodies for SQSTM1 
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    ThermoFisher Antibody for SQSTM1

    Assay Products for SQSTM1: 
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    Uscn ELISAs and CLIAs for SQSTM1

    Protein Domains /
    Families
    for SQSTM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SQSTM1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for SQSTM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 IPI--
    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 6 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:
         Mouse knock-outs for SQSTM1: Sqstm1tm1Keta Sqstm1tm1Jmos Sqstm1tm1Hwl
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SQSTM1 

    miRNA
    Products:            		miRTarBase miRNAs that target SQSTM1:
    hsa-mir-16 (MIRT001410)

    OriGene 3'-UTR Clone (see all 3): SQSTM1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SQSTM1
    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 plasmid: SQSTM1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SQSTM1 (see all 7)
    OriGene shRNA RFP: SQSTM1
    OriGene siRNA: SQSTM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SQSTM1
    Sirion Biotech Custom design and validation of potent shRNA sequences against SQSTM1 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SQSTM1
    Sirion Biotech Customized adenovirus for overexpression of SQSTM1 
    Sirion Biotech Customized adenovirus for potent knockdown of SQSTM1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SQSTM1 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SQSTM1 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): SQSTM1 (NM_003900)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SQSTM1 

    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SQSTM1


    Pathways & Interactions
    for SQSTM1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1p75NTR signals via NF-kB
    		p75NTR signals via NF-kB1.00
    		TRAF6 is auto-ubiquitinated0.56
    		NF-kB is activated and signals survival0.81
    		NRIF signals cell death from the nucleus0.35
    		p75NTR recruits signalling complexes0.81
    2Signal transduction_Activation of PKC via G-Protein coupled receptor
    		Signal transduction_Activation of PKC via G-Protein coupled receptor1.00
    		Signal transduction Activation of PKC via G-Protein coupled receptor0.98
    3Interleukin-1 signaling
    		Interleukin-1 signaling1.00
    		IL1-mediated signaling events0.39
    4Cell death signalling via NRAGE, NRIF and NADE
    		Cell death signalling via NRAGE, NRIF and NADE1.00
    		p75 NTR receptor-mediated signalling0.73
    5Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
    		Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway1.00
    		Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/6 BioSystems Pathways for SQSTM1 (see all 6) 
        Senescence and Autophagy
    RANKL/RANK Signaling Pathway
    IL1-mediated signaling events
    TNF receptor signaling pathway
    Neurotrophic factor-mediated Trk receptor signaling

    5/13        Reactome Pathways for SQSTM1 (see all 13)
        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)

    5/1032 Interacting proteins for SQSTM1 (Q135011, 2, 3 ENSP000003744554) via UniProtKB, MINT, STRING, and/or I2D (see all 1032)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL2P605201, 2, 3, ENSP000000372434EBI-307104,EBI-2973440 MINT-8255624 MINT-66276 I2D: score=9 STRING: ENSP00000037243
    GABARAPL1Q9H0R81, 2, 3, ENSP000002664584EBI-307104,EBI-3240381 MINT-66961 I2D: score=7 STRING: ENSP00000266458
    NBR1Q145961, 2, 3, ENSP000003434794EBI-307104,EBI-2859623 MINT-8075920 I2D: score=6 STRING: ENSP00000343479
    MAP1LC3AQ9H4921, 2, 3, ENSP000003639704EBI-307104,EBI-720768 MINT-7034438 I2D: score=5 STRING: ENSP00000363970
    PRKCIP417432, 3, ENSP000002957974MINT-8075920 MINT-8075934 MINT-8075945 I2D: score=8 STRING: ENSP00000295797
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    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:0006915apoptotic process TAS--
    GO:0006950response to stress TAS12857745

    SQSTM1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SQSTM1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    9 Novoseek 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 

    Transcripts
    for SQSTM1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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

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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 plasmid: SQSTM1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SQSTM1 (see all 7)
    OriGene shRNA RFP: SQSTM1
    OriGene siRNA: SQSTM1
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    Additional cDNA 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.120832863  DT.100714884  DT.120832847  DT.91650906  DT.95174525  DT.100060429  DT.92475216 
    DT.86857002  DT.100714854  DT.100714845  DT.95174562  DT.100638678  DT.100714890  DT.100714841  DT.120832828 
    DT.95332055  DT.97868381  DT.120832773  DT.95174272  DT.120832783  DT.120832853  DT.95174385  DT.92475129 

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

    BG236780 AU141405 BU179887 AA564990 BU178757 BQ000492 AA588690 CB151575 
    BI833774 BG751996 AU137843 AW468973 BM469266 BQ182748 BQ641462 BM994508 
    BE792371 AI982737 BG752758 CB529487 BQ953167 BE893945 AW149105 BF115298 

    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

    Expression
    for SQSTM1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGGAGGGT
    SQSTM1 Expression
    About this image

    SQSTM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
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    Orthologs
    for SQSTM1 gene

    (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 6/20 species (see all 20)    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
    		 --
    		 50(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
    for SQSTM1 gene

    (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


    Genomic Variants
    for SQSTM1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/760 NCBI SNPs in SQSTM1 are shown (see all 760)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939411,2
    		C,Fpathogenic179263445(+) TGACCC/TGCGGC 6 P L mis12Minor allele frequency- T:0.00NA EU 5871
    rs126587211,2
    		C,H--179231390(+) ACAGCC/TTGAAG 3 -- int1 us2k10--------
    rs1498293521,2
    		--179231424(+) ACCCCA/GGGCTG 3 -- us2k1 int10--------
    rs1854757061,2
    		--179231495(+) TTGAGC/TGCTGG 3 -- us2k1 int10--------
    rs1898288891,2
    		--179231547(+) CCCTTC/TTCCAG 3 -- us2k1 int10--------
    rs1158311351,2
    		F--179231554(+) CCAGGG/ATCCAT 3 -- int1 us2k11Minor allele frequency- A:0.05WA 118
    rs1813788661,2
    		--179231600(+) CTTGCA/GTTTCC 3 -- int1 us2k10--------
    rs126587661,2
    		C,H--179231681(+) CACTTC/ACTGGG 3 -- us2k1 int15Minor allele frequency- A:0.00NS EA NA 418
    rs24504831,2
    		--179231884(-) TCTGTG/AGTGAC 2 -- int1 us2k12Minor allele frequency- A:0.22CSA WA 120
    rs1144188861,2
    		--179231907(+) CCCTCG/AACAAG 2 -- us2k1 int11Minor allele frequency- A:0.01NA 120

    HapMap Linkage Disequilibrium report for SQSTM1 (179233388 - 179265078 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SQSTM1
         1 CNV: 0068
    Human Gene Mutation Database (HGMD): SQSTM1

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    Disorders / Diseases
    for SQSTM1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SQSTM1 for disorders           About GeneDecksing

    OMIM gene information: 601530   
    OMIM disorders: 602080  
    UniProtKB/Swiss-Prot: SQSTM_HUMAN, Q13501
  • Defects in SQSTM1 are a cause of Paget disease of bone (PDB) [MIM:602080]. PDB is a 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=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

    20/46 diseases for SQSTM1 (see all 46):    About MalaCards
    paget's disease of bone    frontotemporal lobar degeneration with ubiquitin-positive inclusions    inclusion body myositis    amyotrophic lateral sclerosis
    frontotemporal dementia    multiple system atrophy    mammary paget's disease    lateral sclerosis
    motor neuron disease    pick's disease    myotilinopathy    osteolysis
    benign meningioma    neurodegenerative disease    dementia    myositis
    fanconi's anemia    periostitis    brain disease    liver cirrhosis

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

    10/25 Novoseek 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

    Publications
    for SQSTM1 gene

    (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 320):
    (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. Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. (PubMed id 15176995)1, 2, 9 Hocking L.J.... Ralston S.H. (2004)

    External Searches for SQSTM1 gene

    (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)

    Genome Databases showing SQSTM1 gene

    (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

    Other Databases showing SQSTM1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SQSTM1 gene

    (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

    Intellectual Property
    for SQSTM1 gene

    (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



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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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