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 and protein phosphatase inhibitor activity. Acts upstream of or within vasculature development. Predicted to be located in 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
| Type | InterPro ID | Name |
|---|---|---|
| Repeat | IPR004018 | RPEL repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | RPEL repeat |
|---|---|---|---|
| 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