Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SQSTM1 (sequestosome 1)

Identity

Other namesA170
OSIL
PDB3
ZIP3
p60
p62
p62B
HGNC (Hugo) SQSTM1
LocusID (NCBI) 8878
Location 5q35.3
Location_base_pair Starts at 179233388 and ends at 179265077 bp from pter ( according to hg19-Feb_2009)
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 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)SQSTM1   11280
Cards
Entrez_Gene (NCBI)SQSTM1  8878  sequestosome 1
GeneCards (Weizmann)SQSTM1
Ensembl hg19 (Hinxton)ENSG00000161011 [Gene_View]  chr5:179233388-179265077 [Contig_View]  SQSTM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000161011 [Gene_View]  chr5:179233388-179265077 [Contig_View]  SQSTM1 [Vega]
ICGC DataPortalENSG00000161011
cBioPortalSQSTM1
AceView (NCBI)SQSTM1
Genatlas (Paris)SQSTM1
WikiGenes8878
SOURCE (Princeton)SQSTM1
Genomic and cartography
GoldenPath hg19 (UCSC)SQSTM1  -     chr5:179233388-179265077 +  5q35.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SQSTM1  -     5q35.3   [Description]    (hg38-Dec_2013)
EnsemblSQSTM1 - 5q35.3 [CytoView hg19]  SQSTM1 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBISQSTM1 [Mapview hg19]  SQSTM1 [Mapview hg38]
OMIM601530   602080   
Gene and transcription
Genbank (Entrez)AI333228 AK025146 AK094484 AK098077 AK226167
RefSeq transcript (Entrez)NM_001142298 NM_001142299 NM_003900
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_011342 NT_023133 NW_001838967 NW_004929325
Consensus coding sequences : CCDS (NCBI)SQSTM1
Cluster EST : UnigeneHs.724025 [ NCBI ]
CGAP (NCI)Hs.724025
Alternative Splicing : Fast-db (Paris)GSHG0024539
Alternative Splicing GalleryENSG00000161011
Gene ExpressionSQSTM1 [ NCBI-GEO ]     SQSTM1 [ SEEK ]   SQSTM1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13501 (Uniprot)
NextProtQ13501  [Medical]
With graphics : InterProQ13501
Splice isoforms : SwissVarQ13501 (Swissvar)
Domaine pattern : Prosite (Expaxy)UBA (PS50030)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)OPR_PB1    UBA-like    UBA/transl_elong_EF1B_N_euk    Znf_ZZ   
Related proteins : CluSTrQ13501
Domain families : Pfam (Sanger)PB1 (PF00564)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam00564    pfam00569   
Domain families : Smart (EMBL)PB1 (SM00666)  UBA (SM00165)  ZnF_ZZ (SM00291)  
DMDM Disease mutations8878
Blocks (Seattle)Q13501
PDB (SRS)1Q02    2JY7    2JY8    2K0B    2KNV   
PDB (PDBSum)1Q02    2JY7    2JY8    2K0B    2KNV   
PDB (IMB)1Q02    2JY7    2JY8    2K0B    2KNV   
PDB (RSDB)1Q02    2JY7    2JY8    2K0B    2KNV   
Human Protein AtlasENSG00000161011
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
IntegromeDBSQSTM1
STRING (EMBL)SQSTM1
Ontologies - Pathways
QuickGOQ13501
Ontology : AmiGOpre-autophagosomal structure  cytoplasmic mRNA processing body  positive regulation of protein phosphorylation  immune system process  protein serine/threonine kinase activity  protein kinase C binding  protein binding  nucleoplasm  cytoplasm  lysosome  late endosome  autophagic vacuole  endoplasmic reticulum  cytosol  protein phosphorylation  ubiquitin-dependent protein catabolic process  autophagy  autophagy  response to stress  protein localization  zinc ion binding  endosomal transport  inclusion body  aggresome  macroautophagy  positive regulation of macroautophagy  PML body  protein kinase binding  cell differentiation  receptor tyrosine kinase binding  cytoplasmic vesicle  intracellular signal transduction  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  positive regulation of transcription from RNA polymerase II promoter  regulation of Ras protein signal transduction  neurotrophin TRK receptor signaling pathway  protein heterooligomerization  extracellular vesicular exosome  K63-linked polyubiquitin binding  apoptotic signaling pathway  
Ontology : EGO-EBIpre-autophagosomal structure  cytoplasmic mRNA processing body  positive regulation of protein phosphorylation  immune system process  protein serine/threonine kinase activity  protein kinase C binding  protein binding  nucleoplasm  cytoplasm  lysosome  late endosome  autophagic vacuole  endoplasmic reticulum  cytosol  protein phosphorylation  ubiquitin-dependent protein catabolic process  autophagy  autophagy  response to stress  protein localization  zinc ion binding  endosomal transport  inclusion body  aggresome  macroautophagy  positive regulation of macroautophagy  PML body  protein kinase binding  cell differentiation  receptor tyrosine kinase binding  cytoplasmic vesicle  intracellular signal transduction  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  positive regulation of transcription from RNA polymerase II promoter  regulation of Ras protein signal transduction  neurotrophin TRK receptor signaling pathway  protein heterooligomerization  extracellular vesicular exosome  K63-linked polyubiquitin binding  apoptotic signaling pathway  
Pathways : KEGGOsteoclast differentiation   
Protein Interaction DatabaseSQSTM1
DoCM (Curated mutations)SQSTM1
Wikipedia pathwaysSQSTM1
Gene fusion - rearrangements
Rearrangement : COSMICSQSTM1 [5q35.3]  -  ALK [2p23.2]
Polymorphisms : SNP, variants
NCBI Variation ViewerSQSTM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SQSTM1
dbVarSQSTM1
ClinVarSQSTM1
1000_GenomesSQSTM1 
Exome Variant ServerSQSTM1
SNP (GeneSNP Utah)SQSTM1
SNP : HGBaseSQSTM1
Genetic variants : HAPMAPSQSTM1
Genomic VariantsSQSTM1  SQSTM1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000161011 
Somatic Mutations in Cancer : COSMICSQSTM1 
CONAN: Copy Number AnalysisSQSTM1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:179233388-179265077
Mutations and Diseases : HGMDSQSTM1
OMIM601530    602080   
MedgenSQSTM1
NextProtQ13501 [Medical]
GENETestsSQSTM1
Disease Genetic AssociationSQSTM1
Huge Navigator SQSTM1 [HugePedia]  SQSTM1 [HugeCancerGEM]
snp3D : Map Gene to Disease8878
DGIdb (Drug Gene Interaction db)SQSTM1
General knowledge
Homologs : HomoloGeneSQSTM1
Homology/Alignments : Family Browser (UCSC)SQSTM1
Phylogenetic Trees/Animal Genes : TreeFamSQSTM1
Chemical/Protein Interactions : CTD8878
Chemical/Pharm GKB GenePA36109
Clinical trialSQSTM1
Cancer Resource (Charite)ENSG00000161011
Other databases
Probes
Litterature
PubMed317 Pubmed reference(s) in Entrez
CoreMineSQSTM1
GoPubMedSQSTM1
iHOPSQSTM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:43:14 CET 2014
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