Gene Gene information from NCBI Gene database.
Entrez ID 8878
Gene name Sequestosome 1
Gene symbol SQSTM1
Synonyms (NCBI Gene)
A170DMRVEBIAPFTDALS3NADGPOSILPDB3ZIP3p60p62p62B
Chromosome 5
Chromosome location 5q35.3
Summary 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 m
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs104893941 C>T Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs200396166 C>G,T Pathogenic, likely-benign Intron variant, missense variant, coding sequence variant
rs776749939 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs796051869 ->T Pathogenic Coding sequence variant, stop gained
rs796051870 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
587
miRTarBase ID miRNA Experiments Reference
MIRT001410 hsa-miR-16-5p pSILAC 18668040
MIRT001410 hsa-miR-16-5p pSILAC 18668040
MIRT018399 hsa-miR-335-5p Microarray 18185580
MIRT025851 hsa-miR-7-5p Microarray 19073608
MIRT001410 hsa-miR-16-5p Proteomics;Other 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
ETS1 Unknown 9762895
NFKB1 Unknown 9762895
SP1 Unknown 9762895
SPDEF Activation 12700667
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
129
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000407 Component Phagophore assembly site IEA
GO:0000422 Process Autophagy of mitochondrion NAS 20098416
GO:0000423 Process Mitophagy IBA
GO:0000423 Process Mitophagy IGI 20457763
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601530 11280 ENSG00000161011
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13501
Protein name Sequestosome-1 (EBI3-associated protein of 60 kDa) (EBIAP) (p60) (Phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa) (Ubiquitin-binding protein p62) (p62)
Protein function Molecular adapter required for selective macroautophagy (aggrephagy) by acting as a bridge between polyubiquitinated proteins and autophagosomes (PubMed:15340068, PubMed:15953362, PubMed:16286508, PubMed:17580304, PubMed:20168092, PubMed:2201787
PDB 1Q02 , 2JY7 , 2JY8 , 2K0B , 2KNV , 4MJS , 4UF8 , 4UF9 , 5YP7 , 5YP8 , 5YPA , 5YPB , 5YPC , 5YPE , 5YPF , 5YPG , 5YPH , 6JM4 , 6KHZ , 6MJ7 , 6TGY , 6TH3 , 7R1O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00564 PB1 21 102 PB1 domain Domain
PF00569 ZZ 122 165 Zinc finger, ZZ type Domain
PF16577 UBA_5 379 440 UBA domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8650207}.
Sequence
MASLTVKAYLLGKEDAAREIRRFSFCCSPEPEAEAEAAAGPGPCERLLSRVAALFPALRP
GGFQAHYRDEDGDLVAFSSDEELTMAMSYVKDDIFRIYIKEK
KECRRDHRPPCAQEAPRN
MVHPNVICDGCNGPVVGTRYKCSVCPDYDLCSVCEGKGLHRGHTKLAFPSPFGHLSEGFS
HSRWLRKVKHGHFGWPGWEMGPPGNWSPRPPRAGEARPGPTAESASGPSEDPSVNFLKNV
GESVAAALSPLGIEVDIDVEHGGKRSRLTPVSPESSSTEEKSSSQPSSCCSDPSKPGGNV
EGATQSLAEQMRKIALESEGRPEEQMESDNCSGGDDDWTHLSSKEVDPSTGELQSLQMPE
SEGPSSLDPSQEGPTGLKEAALYPHLPPEADPRLIESLSQMLSMGFSDEGGWLTRLLQTK
NYDIGAALDTIQYSKHPPPL
Sequence length 440
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal
Autophagy - animal
Necroptosis
Cellular senescence
Osteoclast differentiation
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Shigellosis
Fluid shear stress and atherosclerosis
  NRIF signals cell death from the nucleus
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
Pink/Parkin Mediated Mitophagy
Interleukin-1 signaling
Pexophagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Pathogenic; Likely pathogenic rs1425863340, rs1758558921, rs771966860, rs2113487920, rs2113512370, rs1391182750, rs143511494, rs2113485289, rs2480264715, rs1258386028, rs2480244186, rs2480208932, rs2113512406, rs1757759029, rs2480244231
View all (14 more)
RCV001390972
RCV001381373
RCV001383720
RCV002541165
RCV001977620
View all (24 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Likely pathogenic; Pathogenic rs143511494, rs1758359961 RCV003147715
RCV001253614
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, distal, with rimmed vacuoles Likely pathogenic; Pathogenic rs143511494, rs796051870 RCV003333197
RCV001799592
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with ataxia Pathogenic rs886039781 RCV004798821
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Uncertain significance; Conflicting classifications of pathogenicity ClinVar
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Bone Paget disease Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abulia Abulia HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 30669574
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29974378, 31122822
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30114705
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16405664
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21613827, 22963397, 29897944, 31665193, 31810936
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26423071
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 21613827, 25050557, 30782064
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 16405664
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36292980 Associate
★☆☆☆☆
Found in Text Mining only