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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1521
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV001949681
RCV001972785
RCV001908192
RCV003060023
RCV003090306
RCV002600639
RCV002685776
RCV002726291
RCV002780902
RCV003002562
RCV000652541
RCV001062487
RCV003792197
RCV003807918
RCV003800510
RCV003807008
RCV003804675
RCV003815257
RCV002525201
RCV001056951
RCV000795535
RCV001036644
RCV001060204
RCV001242238
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Likely pathogenic; Pathogenic rs143511494, rs1758359961 RCV003147715
RCV001253614
Myopathy, distal, with rimmed vacuoles Likely pathogenic; Pathogenic rs143511494, rs796051870 RCV003333197
RCV001799592
Neurodegeneration with ataxia Pathogenic rs886039781 RCV004798821
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs72813729 RCV005918341
Amyotrophic lateral sclerosis Uncertain significance; Conflicting classifications of pathogenicity rs778679611, rs104893941, rs781478225 RCV003107877
RCV002508916
RCV001095490
Bone Paget disease Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs104893941, rs745365806, rs189132632, rs10688915, rs144467418 RCV005249984
RCV000274840
RCV000365209
RCV000331342
RCV000284393
Cervical cancer Conflicting classifications of pathogenicity rs200396166 RCV005891082
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28544335
Adenocarcinoma Stimulate 29383752
Adenoma Associate 28544335
Adrenocortical Carcinoma Associate 36292980
Alzheimer Disease Inhibit 19481605
Alzheimer Disease Associate 25796131, 36516243
Alzheimer Disease Stimulate 28984607
Amyotrophic Lateral Sclerosis Associate 22972638, 23942205, 24042580, 25114083, 25681989, 25700176, 26208961, 27156075, 27163810, 27318084, 27545679, 28490746, 29653597, 30514811, 31362587
View all (9 more)
Amyotrophic lateral sclerosis 1 Associate 23942205
Apraxias Associate 25114083