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 have actin binding activity; protein phosphatase 1 binding activity; and protein phosphatase inhibitor activity. Involved in vasculature development. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. 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
| Type | InterPro ID | Name |
|---|---|---|
| Repeat | IPR004018 | RPEL repeat |
Domain Details Per Protein
| Protein | Length | RPEL repeat |
|---|---|---|
|
UniProtKB:F1R9D7
|
||
|
UniProtKB:A0A8M1P9M3
|
521 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance