Gene
hspb1
- ID
- ZDB-GENE-030326-4
- Name
- heat shock protein, alpha-crystallin-related, 1
- Symbol
- hspb1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in regulation of myofibril size; response to arsenic-containing substance; and response to heat. Localizes to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2F; distal hereditary motor neuropathy type 2B; pancreatic cancer; and sarcoma. Is expressed in several structures, including mesoderm; musculature system; nervous system; pericardial region; and pleuroperitoneal region. Orthologous to human HSPB1 (heat shock protein family B (small) member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 41 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb660 (12 images)
- cb153 (38 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 3 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 3 | 608634 |
| Charcot-Marie-Tooth disease axonal type 2F | Alliance | Charcot-Marie-Tooth disease, axonal, type 2F | 606595 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha crystallin/Hsp20 domain | Alpha crystallin/Small heat shock protein, animal type | Heat shock protein beta-1, ACD domain | HSP20-like chaperone |
|---|---|---|---|---|---|
|
UniProtKB:A4VAK4
|
199 |
Interactions and Pathways
No data available
Plasmids
No data available