Gene
sqstm1
- ID
- ZDB-GENE-040426-2204
- Name
- sequestosome 1
- Symbol
- sqstm1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity and protein kinase C binding activity. Acts upstream of or within several processes, including axonogenesis; defense response to bacterium; and regulation of autophagy. Predicted to be located in lysosome. Predicted to be active in aggresome and amphisome. Is expressed in several structures, including digestive system; epidermis; mesoderm; nervous system; and tail bud. Human ortholog(s) of this gene implicated in GNE myopathy; Paget's disease of bone; and frontotemporal dementia and/or amyotrophic lateral sclerosis-3. Orthologous to human SQSTM1 (sequestosome 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 32 figures from 25 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb621 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Lattante et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| distal myopathy with rimmed vacuoles | Alliance | Myopathy, distal, with rimmed vacuoles | 617158 |
| frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | Alliance | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 616437 |
| neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | Alliance | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 |
| Paget's disease of bone 3 | Alliance | Paget disease of bone 3 | 167250 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000270 | PB1 domain |
| Domain | IPR000433 | Zinc finger, ZZ-type |
| Domain | IPR015940 | Ubiquitin-associated domain |
| Domain | IPR033741 | Sequestosome-1, UBA domain |
| Domain | IPR034866 | Sequestosome-1, PB1 domain |
| Domain | IPR053793 | PB1-like domain |
| Family | IPR052260 | Autophagy Receptor and Signaling Regulator |
| Homologous_superfamily | IPR009060 | UBA-like superfamily |
| Homologous_superfamily | IPR043145 | Zinc finger, ZZ-type superfamily |
Domain Details Per Protein
| Protein | Length | Autophagy Receptor and Signaling Regulator | PB1 domain | PB1-like domain | Sequestosome-1, PB1 domain | Sequestosome-1, UBA domain | UBA-like superfamily | Ubiquitin-associated domain | Zinc finger, ZZ-type | Zinc finger, ZZ-type superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1Q5Z8
|
452 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sqstm1-202
(1)
|
Ensembl | 1,939 nt | ||
| ncRNA |
sqstm1-003
(1)
|
Ensembl | 531 nt | ||
| ncRNA |
sqstm1-004
(1)
|
Ensembl | 1,010 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab4-sqstm1 | polyclonal | Rabbit |
|
MBL International
|
20 | ||
| Ab10-sqstm1 | polyclonal | Rabbit |
|
Enzo Life Sciences International, Inc.
|
1 |
Plasmids