Gene
actb1
- ID
- ZDB-GENE-000329-1
- Name
- actin, beta 1
- Symbol
- actb1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be located in several cellular components, including actin cytoskeleton; dense body; and focal adhesion. Predicted to be active in actin filament. Is expressed in several structures, including eye; hematopoietic cell; liver; male organism; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome 1; Baraitser-Winter syndrome 2; and autosomal dominant nonsyndromic deafness 20. Orthologous to several human genes including ACTB (actin beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 34 figures from 31 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55989 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Baraitser-Winter syndrome 1 | Alliance | Baraitser-Winter syndrome 1 | 243310 |
| Becker nevus, syndromic or isolated, somatic mosaic | 604919 | ||
| Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic | 620479 | ||
| Dystonia-deafness syndrome 1 | 607371 | ||
| Thrombocytopenia 8, with dysmorphic features and developmental delay | 620475 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|
|
UniProtKB:Q7ZVI7
|
375 |
Interactions and Pathways
No data available
Plasmids