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SQSTM1 (sequestosome 1)

Identity

Alias_namesPDB3
OSIL
Paget disease of bone 3
oxidative stress induced like
Alias_symbol (synonym)p62
p60
p62B
A170
Other aliasDMRV
FTDALS3
NADGP
ZIP3
HGNC (Hugo) SQSTM1
LocusID (NCBI) 8878
Atlas_Id 43999
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 179820842 and ends at 179838077 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACTB (7p22.1) / SQSTM1 (5q35.3)ARHGDIA (17q25.3) / SQSTM1 (5q35.3)CYB561 (17q23.3) / SQSTM1 (5q35.3)
F3 (1p21.3) / SQSTM1 (5q35.3)FGFR1 (8p11.23) / SQSTM1 (5q35.3)FGR (1p36.11) / SQSTM1 (5q35.3)
GPX3 (5q33.1) / SQSTM1 (5q35.3)INS-IGF2 (11p15.5) / SQSTM1 (5q35.3)INTS1 (7p22.3) / SQSTM1 (5q35.3)
NCL (2q37.1) / SQSTM1 (5q35.3)PLEKHA6 (1q32.1) / SQSTM1 (5q35.3)PPP6R2 (22q13.33) / SQSTM1 (5q35.3)
RPL18 (19q13.33) / SQSTM1 (5q35.3)SIVA1 (14q32.33) / SQSTM1 (5q35.3)SQSTM1 (5q35.3) / ALK (2p23.2)
SQSTM1 (5q35.3) / AP1G2 (14q11.2)SQSTM1 (5q35.3) / FGFR1 (8p11.23)SQSTM1 (5q35.3) / GRIA1 (5q33.2)
SQSTM1 (5q35.3) / HIPK2 (7q34)SQSTM1 (5q35.3) / HSD17B8 (6p21.32)SQSTM1 (5q35.3) / KMT2C (7q36.1)
SQSTM1 (5q35.3) / NTRK1 (1q23.1)SQSTM1 (5q35.3) / NTRK2 (9q21.33)SQSTM1 (5q35.3) / NUP214 (9q34.13)
SQSTM1 (5q35.3) / PIGR (1q32.1)SQSTM1 (5q35.3) / PLIN2 (9p22.1)SQSTM1 (5q35.3) / PPM1K (4q22.1)
SQSTM1 (5q35.3) / RABGAP1L (1q25.1)SQSTM1 (5q35.3) / SQSTM1 (5q35.3)UTP3 (4q13.3) / SQSTM1 (5q35.3)
SQSTM1 5q35.3 / ALK 2p23.2ARHGDIA 17q25.3 / SQSTM1 5q35.3CYB561 17q23.3 / SQSTM1 5q35.3
GPX3 5q33.1 / SQSTM1 5q35.3NCL 2q37.1 / SQSTM1 5q35.3RPL18 19q13.33 / SQSTM1 5q35.3
SQSTM1 5q35.3 / AP1G2 14q11.2SQSTM1 5q35.3 / GRIA1 5q33.2SQSTM1 5q35.3 / NTRK1 1q23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Protein

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias t0205p23q35ID1584 t0509q35q34ID1833 TL_t0508q35p11ID2728 TL_t0508q35p11ID3226

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 13 ]

Solid Tumors TT_t0105q23q35ID104435 TT_t0105q23q35ID104436 TT_t0205p23q35ID105458 TT_t0205p23q35ID105459 TT_t0205q37q35ID105470
TT_t0505q33q35ID106753 TT_t0505q33q35ID106756 TT_t0509q35q21ID106838 TT_t0510q35q11ID106483 TT_t0514q35q11ID106525
TT_t0517q35q23ID106560 TT_t0517q35q25ID106561 TT_t0519q35q13ID106571

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Paget's disease of bone

External links

Nomenclature
HGNC (Hugo)SQSTM1   11280
Cards
Entrez_Gene (NCBI)SQSTM1  8878  sequestosome 1
AliasesA170; DMRV; FTDALS3; NADGP; 
OSIL; PDB3; ZIP3; p60; p62; p62B
GeneCards (Weizmann)SQSTM1
Ensembl hg19 (Hinxton)ENSG00000161011 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161011 [Gene_View]  ENSG00000161011 [Sequence]  chr5:179820842-179838077 [Contig_View]  SQSTM1 [Vega]
ICGC DataPortalENSG00000161011
TCGA cBioPortalSQSTM1
AceView (NCBI)SQSTM1
Genatlas (Paris)SQSTM1
WikiGenes8878
SOURCE (Princeton)SQSTM1
Genetics Home Reference (NIH)SQSTM1
Genomic and cartography
GoldenPath hg38 (UCSC)SQSTM1  -     chr5:179820842-179838077 +  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SQSTM1  -     5q35.3   [Description]    (hg19-Feb_2009)
GoldenPathSQSTM1 - 5q35.3 [CytoView hg19]  SQSTM1 - 5q35.3 [CytoView hg38]
ImmunoBaseENSG00000161011
Mapping of homologs : NCBISQSTM1 [Mapview hg19]  SQSTM1 [Mapview hg38]
OMIM167250   601530   616437   617145   617158   
Gene and transcription
Genbank (Entrez)AI333228 AK025146 AK093109 AK094484 AK096241
RefSeq transcript (Entrez)NM_001142298 NM_001142299 NM_003900
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SQSTM1
Cluster EST : UnigeneHs.724025 [ NCBI ]
CGAP (NCI)Hs.724025
Alternative Splicing GalleryENSG00000161011
Gene ExpressionSQSTM1 [ NCBI-GEO ]   SQSTM1 [ EBI - ARRAY_EXPRESS ]   SQSTM1 [ SEEK ]   SQSTM1 [ MEM ]
Gene Expression Viewer (FireBrowse)SQSTM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8878
GTEX Portal (Tissue expression)SQSTM1
Human Protein AtlasENSG00000161011-SQSTM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13501   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13501  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13501
Splice isoforms : SwissVarQ13501
PhosPhoSitePlusQ13501
Domaine pattern : Prosite (Expaxy)PB1 (PS51745)    UBA (PS50030)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)PB1_dom    PB1_p62    SQSTM_UBA    UBA    UBA-like_sf    Znf_ZZ   
Domain families : Pfam (Sanger)PB1 (PF00564)    UBA_5 (PF16577)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam00564    pfam16577    pfam00569   
Domain families : Smart (EMBL)PB1 (SM00666)  UBA (SM00165)  ZnF_ZZ (SM00291)  
Conserved Domain (NCBI)SQSTM1
DMDM Disease mutations8878
Blocks (Seattle)SQSTM1
PDB (RSDB)1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
PDB Europe1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
PDB (PDBSum)1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
PDB (IMB)1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
Structural Biology KnowledgeBase1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
SCOP (Structural Classification of Proteins)1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
CATH (Classification of proteins structures)1Q02    2JY7    2JY8    2K0B    2KNV    4MJS    4UF8    4UF9   
SuperfamilyQ13501
Human Protein Atlas [tissue]ENSG00000161011-SQSTM1 [tissue]
Peptide AtlasQ13501
HPRD03319
IPIIPI00179473   IPI00784104   IPI00878713   IPI00908710   IPI00879205   IPI00013676   IPI01013652   IPI00964217   IPI00965064   IPI00964756   IPI00964222   
Protein Interaction databases
DIP (DOE-UCLA)Q13501
IntAct (EBI)Q13501
FunCoupENSG00000161011
BioGRIDSQSTM1
STRING (EMBL)SQSTM1
ZODIACSQSTM1
Ontologies - Pathways
QuickGOQ13501
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  phagophore assembly site  autophagy of mitochondrion  mitophagy  mitophagy  P-body  positive regulation of protein phosphorylation  immune system process  response to ischemia  protein serine/threonine kinase activity  protein kinase C binding  protein kinase C binding  protein binding  nucleoplasm  cytoplasm  mitochondrion  late endosome  autophagosome  autophagosome  endoplasmic reticulum  cytosol  cytosol  protein phosphorylation  ubiquitin-dependent protein catabolic process  autophagy  autophagy  apoptotic process  mitochondrion organization  endosome organization  endosome organization  protein localization  zinc ion binding  regulation of mitochondrion organization  endosomal transport  inclusion body  aggresome  macroautophagy  macroautophagy  macroautophagy  PML body  enzyme binding  protein kinase binding  sarcomere  cell differentiation  receptor tyrosine kinase binding  ubiquitin protein ligase binding  ubiquitin protein ligase binding  ionotropic glutamate receptor binding  intracellular signal transduction  aggrephagy  aggrephagy  SH2 domain binding  identical protein binding  protein homodimerization activity  positive regulation of apoptotic process  negative regulation of apoptotic process  regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  ubiquitin binding  intracellular membrane-bounded organelle  amphisome  amphisome  autolysosome  positive regulation of transcription by RNA polymerase II  regulation of Ras protein signal transduction  protein heterooligomerization  regulation of protein complex stability  selective autophagy  extracellular exosome  interleukin-1-mediated signaling pathway  K63-linked polyubiquitin modification-dependent protein binding  K63-linked polyubiquitin modification-dependent protein binding  sperm midpiece  Lewy body  response to mitochondrial depolarisation  positive regulation of long-term synaptic potentiation  positive regulation of protein localization to plasma membrane  protein localization to perinuclear region of cytoplasm  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  phagophore assembly site  autophagy of mitochondrion  mitophagy  mitophagy  P-body  positive regulation of protein phosphorylation  immune system process  response to ischemia  protein serine/threonine kinase activity  protein kinase C binding  protein kinase C binding  protein binding  nucleoplasm  cytoplasm  mitochondrion  late endosome  autophagosome  autophagosome  endoplasmic reticulum  cytosol  cytosol  protein phosphorylation  ubiquitin-dependent protein catabolic process  autophagy  autophagy  apoptotic process  mitochondrion organization  endosome organization  endosome organization  protein localization  zinc ion binding  regulation of mitochondrion organization  endosomal transport  inclusion body  aggresome  macroautophagy  macroautophagy  macroautophagy  PML body  enzyme binding  protein kinase binding  sarcomere  cell differentiation  receptor tyrosine kinase binding  ubiquitin protein ligase binding  ubiquitin protein ligase binding  ionotropic glutamate receptor binding  intracellular signal transduction  aggrephagy  aggrephagy  SH2 domain binding  identical protein binding  protein homodimerization activity  positive regulation of apoptotic process  negative regulation of apoptotic process  regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  ubiquitin binding  intracellular membrane-bounded organelle  amphisome  amphisome  autolysosome  positive regulation of transcription by RNA polymerase II  regulation of Ras protein signal transduction  protein heterooligomerization  regulation of protein complex stability  selective autophagy  extracellular exosome  interleukin-1-mediated signaling pathway  K63-linked polyubiquitin modification-dependent protein binding  K63-linked polyubiquitin modification-dependent protein binding  sperm midpiece  Lewy body  response to mitochondrial depolarisation  positive regulation of long-term synaptic potentiation  positive regulation of protein localization to plasma membrane  protein localization to perinuclear region of cytoplasm  
Pathways : KEGGOsteoclast differentiation   
NDEx NetworkSQSTM1
Atlas of Cancer Signalling NetworkSQSTM1
Wikipedia pathwaysSQSTM1
Orthology - Evolution
OrthoDB8878
GeneTree (enSembl)ENSG00000161011
Phylogenetic Trees/Animal Genes : TreeFamSQSTM1
HOGENOMQ13501
Homologs : HomoloGeneSQSTM1
Homology/Alignments : Family Browser (UCSC)SQSTM1
Gene fusions - Rearrangements
Fusion : MitelmanARHGDIA/SQSTM1 [17q25.3/5q35.3]  [t(5;17)(q35;q25)]  
Fusion : MitelmanCYB561/SQSTM1 [17q23.3/5q35.3]  [t(5;17)(q35;q23)]  
Fusion : MitelmanGPX3/SQSTM1 [5q33.1/5q35.3]  [t(5;5)(q33;q35)]  
Fusion : MitelmanNCL/SQSTM1 [2q37.1/5q35.3]  [t(2;5)(q37;q35)]  
Fusion : MitelmanRPL18/SQSTM1 [19q13.33/5q35.3]  [t(5;19)(q35;q13)]  
Fusion : MitelmanSQSTM1/ALK [5q35.3/2p23.2]  [t(2;5)(p23;q35)]  
Fusion : MitelmanSQSTM1/AP1G2 [5q35.3/14q11.2]  [t(5;14)(q35;q11)]  
Fusion : MitelmanSQSTM1/GRIA1 [5q35.3/5q33.2]  [t(5;5)(q33;q35)]  
Fusion : MitelmanSQSTM1/NTRK1 [5q35.3/1q23.1]  [t(1;5)(q23;q35)]  
Fusion : MitelmanSQSTM1/NUP214 [5q35.3/9q34.13]  [t(5;9)(q35;q34)]  
Fusion PortalARHGDIA 17q25.3 SQSTM1 5q35.3 HNSC SKCM
Fusion PortalCYB561 17q23.3 SQSTM1 5q35.3 PRAD
Fusion PortalGPX3 5q33.1 SQSTM1 5q35.3 THCA
Fusion PortalNCL 2q37.1 SQSTM1 5q35.3 LUAD
Fusion PortalRPL18 19q13.33 SQSTM1 5q35.3 PRAD
Fusion PortalSQSTM1 5q35.3 AP1G2 14q11.2 BRCA
Fusion PortalSQSTM1 5q35.3 GRIA1 5q33.2 LUAD
Fusion PortalSQSTM1 5q35.3 NTRK1 1q23.1 THCA
Fusion : QuiverSQSTM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSQSTM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SQSTM1
dbVarSQSTM1
ClinVarSQSTM1
1000_GenomesSQSTM1 
Exome Variant ServerSQSTM1
ExAC (Exome Aggregation Consortium)ENSG00000161011
GNOMAD BrowserENSG00000161011
Varsome BrowserSQSTM1
Genetic variants : HAPMAP8878
Genomic Variants (DGV)SQSTM1 [DGVbeta]
DECIPHERSQSTM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSQSTM1 
Mutations
ICGC Data PortalSQSTM1 
TCGA Data PortalSQSTM1 
Broad Tumor PortalSQSTM1
OASIS PortalSQSTM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSQSTM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSQSTM1
Mutations and Diseases : HGMDSQSTM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SQSTM1
DgiDB (Drug Gene Interaction Database)SQSTM1
DoCM (Curated mutations)SQSTM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SQSTM1 (select a term)
intoGenSQSTM1
Cancer3DSQSTM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM167250    601530    616437    617145    617158   
Orphanet106    20341    20340   
DisGeNETSQSTM1
MedgenSQSTM1
Genetic Testing Registry SQSTM1
NextProtQ13501 [Medical]
TSGene8878
GENETestsSQSTM1
Target ValidationSQSTM1
Huge Navigator SQSTM1 [HugePedia]
snp3D : Map Gene to Disease8878
BioCentury BCIQSQSTM1
ClinGenSQSTM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8878
Chemical/Pharm GKB GenePA36109
Clinical trialSQSTM1
Miscellaneous
canSAR (ICR)SQSTM1 (select the gene name)
DataMed IndexSQSTM1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSQSTM1
EVEXSQSTM1
GoPubMedSQSTM1
iHOPSQSTM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 12 15:57:15 CEST 2019
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