Version: 8.0.0Date: Tue Jan 28 2025
Gene
Sqstm1
- Species
- Mus musculus
- Symbol
- Sqstm1
- Name
- sequestosome 1
- Synonyms
- A170
- OSF-6
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ionotropic glutamate receptor binding activity; modification-dependent protein binding activity; and molecular condensate scaffold activity. Involved in several processes, including aggrephagy; brown fat cell proliferation; and positive regulation of long-term synaptic potentiation. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in several cellular components, including aggresome; sperm midpiece; and vacuole. Is active in intracellular membraneless organelle. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Paget's disease of bone. Human ortholog(s) of this gene implicated in Paget's disease of bone; Paget's disease of bone 3; distal myopathy with rimmed vacuoles; frontotemporal dementia and/or amyotrophic lateral sclerosis 3; and neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset. Orthologous to human SQSTM1 (sequestosome 1).
- MGI Description
- PHENOTYPE: Mice homozygous for one knock-out allele exhibit impaired osteoclastogenesis in response to osteoclastogenic factors. Mice homozygous and heterozygous for a knock-in allele exhibit osteolytic lesion with increased bone formation, mineral apposition rate,and osteoclast numbers. Heterozygosity for the hyperactivating p.S351E mutation leads to hyperkeratosis in stomach and esophagus and, consequently, malnutrition, dehydration and severe growth retardation. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR15090
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr11:50090193...50101654 - (11.46 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.