1. Gene
  2. SQSTM1 - sequestosome 1 Gene

SQSTM1 - sequestosome 1 Gene

Homo sapiens

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

Gene ID: 8878 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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

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