Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8878
Gene name Gene Name - the full gene name approved by the HGNC.
Sequestosome 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SQSTM1
Synonyms (NCBI Gene) Gene synonyms aliases
A170, DMRV, EBIAP, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DMRV, FTDALS3, NADGP, PDB3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
ETS1 Unknown 9762895
NFKB1 Unknown 9762895
SP1 Unknown 9762895
SPDEF Activation 12700667
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000423 Process Mitophagy IGI 20457763
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601530 11280 ENSG00000161011
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
24162737
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic lateral sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
23303844, 24085347, 24138988, 22084127, 19765191
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Unknown
Disease term Disease name Evidence References Source
Inclusion body myopathy NONAKA MYOPATHY 26208961 ClinVar
Mental depression Depressive disorder ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis GenCC
Associations from Text Mining
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