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 have K63-linked polyubiquitin modification-dependent protein binding activity and protein kinase C binding activity. Involved in axonogenesis; locomotory behavior; and regulation of autophagy. Predicted to localize to aggresome and amphisome. Human ortholog(s) of this gene implicated in FTDALS3 and Paget's disease of bone. Is expressed in several structures, including digestive system; epidermis; mesoderm; nervous system; and tail bud. Orthologous to human SQSTM1 (sequestosome 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 31 figures from 24 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