Gene
phactr1
- ID
- ZDB-GENE-101230-3
- Name
- phosphatase and actin regulator 1
- Symbol
- phactr1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable actin binding activity. Acts upstream of or within vasculature development. Predicted to be located in cytoplasm; nucleus; and synapse. Human ortholog(s) of this gene implicated in artery disease (multiple) and brain disease (multiple). Orthologous to human PHACTR1 (phosphatase and actin regulator 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Kiando et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 70 | Alliance | Developmental and epileptic encephalopathy 70 | 618298 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Additional Resources | Length |
---|---|---|
UniProtKB:F1R9D7 | InterPro | |
UniProtKB:A0A8M1P9M3 | InterPro | 521 |
UniProtKB:A0AB13A8G4 | InterPro | 541 |
UniProtKB:A0AB32T6E5 | InterPro | 605 |
- Genome Browsers
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
phactr1-201
(1)
|
Ensembl | 1,629 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance