SQSTM1 - sequestosome 1 Gene

Also Known as p60; p62; A170; DMRV; OSIL; PDB3; ZIP3; p62B; NADGP; FTDALS3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8878

About SQSTM1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,806,393-179,838,078 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 212 orthologues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 57.3), gall bladder (RPKM 54.3) and 25 other tissues.

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 mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]

SQSTM1 Products (3)

mRNA Protein Name
NM_001142298.2 NP_001135770.1 sequestosome-1 isoform 2
NM_001142299.2 NP_001135771.1 sequestosome-1 isoform 2
NM_003900.5 NP_003891.1 sequestosome-1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables K63-linked polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
28404643 GOA
enables SH2 domain binding IDA
IDA: Inferred from direct assay
8650207 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
27368102 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
16169070 GOA
enables molecular condensate scaffold activity IDA
IDA: Inferred from direct assay
29343546 GOA
enables molecular sequestering activity IDA
IDA: Inferred from direct assay
31281713 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8618896 GOA
enables protein kinase C binding IPI
IPI: Inferred from physical interaction
14676191 GOA
enables protein kinase binding IDA
IDA: Inferred from direct assay
8650207 GOA
enables protein sequestering activity IDA
IDA: Inferred from direct assay
37306101 GOA
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
26344566 GOA
enables signaling receptor activity IDA
IDA: Inferred from direct assay
28871090 GOA
enables ubiquitin binding IDA
IDA: Inferred from direct assay
12857745 GOA
enables ubiquitin protein ligase binding IDA
IDA: Inferred from direct assay
27368102 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
25127057 GOA
enables ubiquitin-modified protein reader activity IDA
IDA: Inferred from direct assay
22017874 GOA
Biological Process GO Annotation Evidence References Source
involved in aggrephagy IDA
IDA: Inferred from direct assay
17580304 GOA
involved in aggrephagy IPI
IPI: Inferred from physical interaction
28404643 GOA
involved in autophagy IDA
IDA: Inferred from direct assay
20452972 GOA
involved in autophagy IMP
IMP: Inferred from mutant phenotype
17580304 GOA
involved in cellular response to stress IDA
IDA: Inferred from direct assay
17580304 GOA
involved in endosome organization IDA
IDA: Inferred from direct assay
27368102 GOA
involved in macroautophagy IMP
IMP: Inferred from mutant phenotype
20168092 GOA
involved in mitophagy IGI
IGI: Inferred from genetic interaction
20457763 GOA
involved in negative regulation of ferroptosis IMP
IMP: Inferred from mutant phenotype
26403645 GOA
involved in negative regulation of protein ubiquitination IDA
IDA: Inferred from direct assay
20452972 GOA
involved in negative regulation of toll-like receptor 4 signaling pathway IDA
IDA: Inferred from direct assay
31281713 GOA
involved in non-membrane-bounded organelle assembly IDA
IDA: Inferred from direct assay
29343546 GOA
involved in pexophagy IDA
IDA: Inferred from direct assay
26344566 GOA
involved in positive regulation of autophagy IDA
IDA: Inferred from direct assay
28871090 GOA
involved in protein catabolic process IDA
IDA: Inferred from direct assay
27498865 GOA
involved in protein localization to perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
27368102 GOA
involved in protein targeting to vacuole involved in autophagy IDA
IDA: Inferred from direct assay
27498865 GOA
involved in regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
12857745 GOA
involved in regulation of protein complex stability IDA
IDA: Inferred from direct assay
25127057 GOA
involved in response to mitochondrial depolarisation IGI
IGI: Inferred from genetic interaction
20457763 GOA
Cellular Component GO Annotation Evidence References Source
located in P-body IDA
IDA: Inferred from direct assay
20357094 GOA
located in PML body IDA
IDA: Inferred from direct assay
20168092 GOA
located in amphisome IDA
IDA: Inferred from direct assay
19640926 GOA
located in autolysosome IDA
IDA: Inferred from direct assay
19640926 GOA
is active in autophagosome IDA
IDA: Inferred from direct assay
30612879 GOA
located in autophagosome IDA
IDA: Inferred from direct assay
17580304 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
20168092 GOA
is active in cytosol IDA
IDA: Inferred from direct assay
8650207 GOA
located in inclusion body IDA
IDA: Inferred from direct assay
20168092 GOA
is active in intracellular non-membrane-bounded organelle IDA
IDA: Inferred from direct assay
22017874 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SQSTM1 Protein Structure

PB1

PB1: PB1 domain (41 - 100)

ZZ

ZZ: Zinc finger, ZZ type (123 - 158)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 440 a.a.
Protein Preferred Names Protein Names

sequestosome-1

  • EBI3-associated protein of 60 kDa

SQSTM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SQSTM1 Q13501 NTRK1 Homo sapiens P04629 17389358
Intra
SQSTM1 Q13501 MALT1 Homo sapiens Q9UDY8 16874300
Intra
SQSTM1 Q13501 MALT1 Homo sapiens Q9UDY8 16874300
Intra
SQSTM1 Q13501 HSPA1A Homo sapiens P0DMV8 32814053
Intra
SQSTM1 Q13501 HSPA1A Homo sapiens P0DMV8 32814053
Intra
SQSTM1 Q13501 HSPA1A Homo sapiens P0DMV8 32814053
Intra
SQSTM1 Q13501 MAP1LC3C Homo sapiens Q9BXW4 19250911
Intra
SQSTM1 Q13501 MAP1LC3C Homo sapiens Q9BXW4
FPS
33436498
Intra
SQSTM1 Q13501 MAP1LC3C Homo sapiens Q9BXW4 20562859
Cross
SQSTM1 Q13501 ATG8 Saccharomyces cerevisiae P38182 19250911
Cross
SQSTM1 Q13501 ATG8 Saccharomyces cerevisiae P38182
Y2H
19250911
Intra
SQSTM1 Q13501 CNR2 Homo sapiens P34972 31616248
Intra
SQSTM1 Q13501 CNR2 Homo sapiens P34972 31616248
Intra
SQSTM1 Q13501 PRKCI Homo sapiens P41743 20808283
Intra
SQSTM1 Q13501 PRKCI Homo sapiens P41743 20562859
Intra
SQSTM1 Q13501 PRKCI Homo sapiens P41743 34524948
Intra
SQSTM1 Q13501 VDR Homo sapiens P11473 27728806
Intra
SQSTM1 Q13501 CDC37 Homo sapiens Q16543 32296183
Intra
SQSTM1 Q13501 CDC37 Homo sapiens Q16543 20562859
Intra
SQSTM1 Q13501 MAP1LC3B Homo sapiens Q9GZQ8
Y2H
19250911
Intra
SQSTM1 Q13501 NIPSNAP1 Homo sapiens Q9BPW8 34524948
Intra
SQSTM1 Q13501 NIPSNAP1 Homo sapiens Q9BPW8 35271311
Intra
SQSTM1 Q13501 NIPSNAP1 Homo sapiens Q9BPW8 20562859
Intra
SQSTM1 Q13501 MAP2K5 Homo sapiens Q13163 32296183
Intra
SQSTM1 Q13501 UBC Homo sapiens P0CG48
Y2H
8702753
Intra
SQSTM1 Q13501 UBC Homo sapiens P0CG48
Y2H
21900206
Intra
SQSTM1 Q13501 SH3KBP1 Homo sapiens Q96B97 20551902
Intra
SQSTM1 Q13501 SH3KBP1 Homo sapiens Q96B97 20551902
Intra
SQSTM1 Q13501 SMAD3 Homo sapiens P84022 21988832
Intra
SQSTM1 Q13501 PTPN13 Homo sapiens Q12923 24316673
Intra
SQSTM1 Q13501 TRAF6 Homo sapiens Q9Y4K3 17389358
Intra
SQSTM1 Q13501 SESN2 Homo sapiens P58004 25040165
Intra
SQSTM1 Q13501 LRRK2 Homo sapiens Q5S007
PLA
29519959
Intra
SQSTM1 Q13501 FHOD3 Homo sapiens Q2V2M9-4 21149568
Intra
SQSTM1 Q13501 FHOD3 Homo sapiens Q2V2M9-4
Y2H
21149568
Intra
SQSTM1 Q13501 FHOD3 Homo sapiens Q2V2M9 21149568
Intra
SQSTM1 Q13501 FHOD3 Homo sapiens Q2V2M9 21149568
Intra
SQSTM1 Q13501 GABARAP Homo sapiens O95166 32296183
Intra
SQSTM1 Q13501 GABARAP Homo sapiens O95166 20562859
Intra
SQSTM1 Q13501 GABARAP Homo sapiens O95166 32296183
Intra
SQSTM1 Q13501 GABARAP Homo sapiens O95166
FPS
33436498
Intra
SQSTM1 Q13501 GABARAP Homo sapiens O95166 19250911
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520 19250911
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520 25416956
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520
FPS
33436498
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520 20562859
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520 25416956
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520 16189514
Intra
SQSTM1 Q13501 GABARAPL2 Homo sapiens P60520
Y2H
19250911
Intra
SQSTM1 Q13501 MAP1LC3A Homo sapiens Q9H492 32296183
Intra
SQSTM1 Q13501 MAP1LC3A Homo sapiens Q9H492 19250911
Intra
SQSTM1 Q13501 MAP1LC3A Homo sapiens Q9H492
FPS
33436498
Intra
SQSTM1 Q13501 MAP1LC3A Homo sapiens Q9H492
IF
19427866
Intra
SQSTM1 Q13501 DAZAP2 Homo sapiens Q15038 32296183
Intra
SQSTM1 Q13501 NBR1 Homo sapiens Q14596 19250911
Intra
SQSTM1 Q13501 NBR1 Homo sapiens Q14596 20808283
Intra
SQSTM1 Q13501 NBR1 Homo sapiens Q14596 24879152
Intra
SQSTM1 Q13501 NBR1 Homo sapiens Q14596 19250911
Intra
SQSTM1 Q13501 NBR1 Homo sapiens Q14596 20562859
Intra
SQSTM1 Q13501 RAD23A Homo sapiens P54725 31515488
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 25416956
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 20562859
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 32296183
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 25416956
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 16189514
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 19250911
Intra
SQSTM1 Q13501 GABARAPL1 Homo sapiens Q9H0R8 25416956
Intra
SQSTM1 Q13501 OPTN Homo sapiens Q96CV9 25026213
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 32296183
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 25416956
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 25416956
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 32296183
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 25910212
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 20562859
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 25910212
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 32296183
Intra
SQSTM1 Q13501 KEAP1 Homo sapiens Q14145 25910212
Intra
SQSTM1 Q13501 CLDN2 Homo sapiens P57739
PLA
37460613
Intra
SQSTM1 Q13501 CLDN2 Homo sapiens P57739
IF
37460613
Intra
SQSTM1 Q13501 IKBKG Homo sapiens Q9Y6K9 16874300
Intra
SQSTM1 Q13501 IKBKG Homo sapiens Q9Y6K9 16874300
Cross
SQSTM1 Q13501 Ulk1 Mus musculus O70405 25040165
Cross: Cross-species interaction Intra: Intraspecies interaction

SQSTM1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80518 SQSTM1/p62 Antibody (YA669) IHC-P, FC Human, Mouse, Rat
HY-P80899 SQSTM1/p62 Antibody (YA062) WB, IHC-F, IHC-P, ICC/IF, IP Human
HY-P80899A SQSTM1/p62 Antibody (YA062)(PBS only) WB, IHC-F, IHC-P, ICC/IF, IP Human
HY-P84545 SQSTM1/p62 Antibody (YA4242) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P84545A SQSTM1/p62 Antibody (YA4242)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P86651 SQSTM1/p62 Antibody (YA6343) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Paget Disease Of Bone 3
  • PDB3

  • Osteitis Deformans

  • Paget Disease Of Bone, Type 3

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
  • FTDALS3

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3

Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
  • NADGP

Myopathy, Distal, With Rimmed Vacuoles
  • DMRV

  • Multisystem Proteinopathy 4

  • Msp4

  • Nonaka Myopathy

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Paget'S Disease Of Bone
  • Osteitis Deformans

  • Paget Disease Of Bone

  • Osseous Paget'S Disease

  • Paget Disease Of Bone, Familial

  • Bone Paget Disease

  • Familial Paget'S Disease Of Bone

  • Paget'S Bone Disease

  • Familial Paget Disease Of Bone

  • Paget Disease, Bone

  • Pdb

  • Pagets Bone Disease

Spastic Paraplegia-Paget Disease Of Bone Syndrome
Paget Disease Of Bone 2, Early-Onset
  • PDB2

  • Paget Disease Of Bone, Type 2, Early-Onset

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Welander Distal Myopathy
  • WDM

  • Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant

  • Myopathy, Distal, Swedish

  • Welander Distal Myopathy, Swedish Type

  • Distal Myopathy, Swedish Type

  • Distal Myopathy, Welander Type

  • Late-Onset Autosomal Dominant Distal Muscular Dystrophy

  • Swedish Distal Myopathy

Familial Expansile Osteolysis
  • FEO

  • Mccabe Disease

  • Osteolysis, Familial Expansile

  • Polyostotic Osteolytic Dysplasia, Hereditary Expansile

  • Hepod

  • Expansile Osteolysis, Familial

  • Eof

  • Hereditary Expansile Polyostotic Osteolytic Dysplasia

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Amyotrophic Lateral Sclerosis 3
  • ALS3

  • Amyotrophic Lateral Sclerosis Type 3

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Cystinosis
  • Cystine Storage Disease

  • Cystine Diathesis

  • Cystine Disease

  • Cystinoses

  • Protein Defect Of Cystin Transport

  • Cystin Transport, Protein Defect Of

  • Nephropathic Cystinosis

  • Protein Defect Of Cystine Transport

Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Multiple System Atrophy 1
  • Multiple System Atrophy

  • Shy-Drager Syndrome

  • Msa

  • MSA1

  • Multiple System Atrophy 1, Susceptibility To

  • Sporadic Olivopontocerebellar Atrophy

  • Multisystem Atrophy

  • Msa1, Susceptibility To

  • Multiple System Atrophy, Susceptibility To

  • Opca

  • Progressive Autonomic Failure With Multiple System Atrophy

  • Sds

Periostitis
Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Multisystem Proteinopathy
Pilocytic Astrocytoma
  • Juvenile Pilocytic Astrocytoma

  • Grade I Astrocytic Tumor

  • Piloid Astrocytoma

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Mammary Paget'S Disease
  • Paget'S Disease

  • Mammary Paget Disease

  • Paget'S Disease Of The Breast

  • Paget Disease Of The Breast

  • Paget'S Disease Of The Nipple

  • Paget'S Disease, Mammary

  • Paget Cell Neoplasm

  • Paget Disease Of The Nipple

  • Pagets Disease Mammary

  • Osteitis Deformans

Myopathy
  • Muscular Diseases

  • Myopathies

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
  • Ibmpfd

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Multisystem Proteinopathy

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Alcoholic Hepatitis
  • Acute Alcoholic Hepatitis

  • Acute Alcoholic Liver Disease

  • Hepatitis, Alcoholic

  • Hepatitis Alcoholic

  • Ah - [Alcoholic Hepatitis]

  • Ethanol Hepatitis

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Spinocerebellar Ataxia, Autosomal Recessive 20
  • Autosomal Recessive Spinocerebellar Ataxia 20

  • SCAR20

  • Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

  • Autosomal Recessive Spinocerebellar Ataxia Type 20

  • Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive, 20

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 20

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Myopathy, X-Linked, With Excessive Autophagy
  • X-Linked Myopathy With Excessive Autophagy

  • Xmea

  • MEAX

  • Vacuolar Myopathy

Nonaka Myopathy
  • Gne Myopathy

  • Hibm

  • Distal Myopathy With Rimmed Vacuoles

  • Hereditary Inclusion Body Myopathy

  • Ibm2

  • Inclusion Body Myopathy, Quadriceps-Sparing

  • Qsm

  • Dmrv

  • Distal Myopathy, Nonaka Type

  • Inclusion Body Myopathy 2

  • Inclusion Body Myopathy, Autosomal Recessive

  • NM

  • Nonaka Distal Myopathy

  • Myopathy, Distal, With Or Without Rimmed Vacuoles

  • Inclusion Body Myopathy, Hereditary, Autosomal Recessive

  • Inclusion Body Myopathy Type 2

  • Quadriceps-Sparing Myopathy

  • Quadriceps Sparing Myopathy

  • Rimmed Vacuole Myopathy

  • Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

  • Ibm2, Formerly

  • Hibm2

  • Hereditary Inclusion Body Myopathy Type 2

  • Inclusion Body Myopathy 2, Autosomal Recessive

  • Myopathy, Distal, With Rimmed Vacuoles

  • Inclusion Body Myopathy Autosomal Recessive

  • Myopathy, Inclusion Body, Type 2

  • Myopathy, Nonaka

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

Danon Disease
  • Pseudoglycogenosis Ii

  • Antopol Disease

  • Glycogen Storage Disease Iib

  • Glycogen Storage Disease Type 2b

  • Glycogen Storage Disease Type Iib

  • Gsd2b

  • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

  • Vacuolar Cardiomyopathy And Myopathy X-Linked

  • Vacuolar Cardiomyopathy And Myopathy, X-Linked

  • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

  • Gsd2b, Formerly

  • Gsd Iib, Formerly

  • Glycogen Storage Cardiomyopathy

  • Glycogen Storage Disease Limited To The Heart

  • Pseudoglycogenosis 2

  • X-Linked Vacuolar Cardiomyopathy And Myopathy

  • Lysosomal Glycogen Storage Disease With Normal Acid Maltase

  • Glycogen Storage Disease Due To Lamp-2 Deficiency

  • Gsd Due To Lamp-2 Deficiency

  • Glycogenosis Due To Lamp-2 Deficiency

  • Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

  • DAND

  • Gsd-Iib

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Diamond-Blackfan Anemia 20
  • DBA20

  • Rps15a-Related Diamond-Blackfan Anemia

Macular Degeneration, Age-Related, 14
  • Age Related Macular Degeneration 14

  • ARMD14

  • Macular Degeneration, Age-Related, 14, Reduced Risk Of

  • Macular Degeneration, Age-Related, Type 14

Beach Ear
  • Acute Swimmer'S Ear

  • Acute Bacterial Inflammation Of External Ear

  • Acute Otitis Externa, Diffuse

  • Acute Swimmers' Ear

  • Tank Ear

Liver Carcinoma In Situ
  • Carcinoma In Situ Of Liver And Biliary System

  • Carcinoma In Situ Of Liver, Gallbladder And Bile Ducts

Pheochromocytoma
  • Pheochromocytoma, Susceptibility To

  • Phaeochromocytoma

  • Adrenal Gland Chromaffin Paraganglioma

  • Adrenal Gland Chromaffinoma

  • Adrenal Gland Paraganglioma

  • Adrenal Gland Pheochromocytoma

  • Chromaffin Paraganglioma Of The Adrenal Gland

  • Intraadrenal Paraganglioma

  • PCC

  • Chromaffin Cell Tumor

  • Medullary Chromaffinoma

  • Medullary Paraganglioma

  • Pheochromoblastoma

  • Pheochromocytomas

  • Chromaffin Cell Neoplasm

  • Pheochromocytoma, Malignant

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2
  • Ibmpfd2

  • Msp2

  • Multisystem Proteinopathy 2

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Myofibrillar Myopathy
  • Desmin Related Myopathy

  • Myotilinopathy

  • Myopathy, Myofibrillar

  • Alpha Beta Crystallinopathy

  • Desmin Storage Myopathy

  • Desminopathy

  • Filaminopathy

  • Protein Surplus Myopathy

  • Zaspopathy

  • Myofibrillar Myopathies

  • Myopathy, Myofibrillar, Desmin-Related

  • Myopathy, Desmin Storage

  • Mfm - [Myofibrillar Myopathy]

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Dementia, Lewy Body
  • Lewy Body Dementia

  • Lewy Body Disease

  • Diffuse Lewy Body Disease

  • Dementia With Lewy Bodies

  • DLB

  • Autosomal Dominant Diffuse Lewy Body Disease

  • Cortical Lewy Body Disease

  • Dementia, Lewy Body, Susceptibility To

  • Lewy Body Dementia, Susceptibility To

  • Senile Dementia Of The Lewy Body Type

  • Dementia Of The Lewy Body Type

  • Lbd

  • Diffuse Lewy Body Disease With Gaze Palsy

  • Dysphasic Dementia Hereditary

  • Lewy Body Type Senile Dementia

  • Lewy Body Variant Of Alzheimer Disease

  • Lewy Bodies

  • Lewy Body

  • Dlbd - [Diffuse Lewy Body Disease]

  • Clbd - [Cortical Lewy Body Disease]

Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SQSTM1 VGNC VGNC:65669
Rattus norvegicus SQSTM1 RGD RGD:69287
Mus musculus SQSTM1 MGD MGI:107931
Canis familiaris SQSTM1 VGNC VGNC:46787
Macaca mulatta SQSTM1 VGNC VGNC:77876
Bos taurus SQSTM1 VGNC VGNC:35265
Others SQSTM1 NCBI