Gene
ppp3ca
- ID
- ZDB-GENE-091113-24
- Name
- protein phosphatase 3, catalytic subunit, alpha isozyme
- Symbol
- ppp3ca Nomenclature History
- Previous Names
-
- fj46e08
- si:dkeyp-79c2.2
- wu:fj46e08
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity and calmodulin-dependent protein phosphatase activity. Predicted to be involved in calcineurin-NFAT signaling cascade. Predicted to act upstream of or within calcineurin-mediated signaling. Predicted to be part of calcineurin complex. Predicted to be active in cytosol. Is expressed in brain; heart; integument; liver; and olfactory epithelium. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 91. Orthologous to human PPP3CA (protein phosphatase 3 catalytic subunit alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 91 | Alliance | Developmental and epileptic encephalopathy 91 | 617711 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 618265 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004843 | Calcineurin-like phosphoesterase domain, ApaH type |
| Domain | IPR006186 | Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase |
| Domain | IPR041751 | PP2B, metallophosphatase domain |
| Family | IPR043360 | PP2B |
| Homologous_superfamily | IPR029052 | Metallo-dependent phosphatase-like |
Domain Details Per Protein
| Protein | Length | Calcineurin-like phosphoesterase domain, ApaH type | Metallo-dependent phosphatase-like | PP2B | PP2B, metallophosphatase domain | Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase |
|---|---|---|---|---|---|---|
|
UniProtKB:E9QD09
|
505 | |||||
|
UniProtKB:F1QD93
|
521 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ppp3ca-201
(1)
|
Ensembl | 3,508 nt | ||
| mRNA |
ppp3ca-202
(1)
|
Ensembl | 2,063 nt |
Interactions and Pathways
No data available
Plasmids
No data available