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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la014054Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa23963 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa29618 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37336 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44970 | Allele with one point mutation | Unknown | Unknown | ENU |
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No data available
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 |
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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 |
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Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 505 | |||||
| UniProtKB:F1QD93 | InterPro | 521 |
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| 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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-222K23 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-79C2 | ZFIN Curated Data | |
| Encodes | EST | fj46e08 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001198550 (1) | 3513 nt | ||
| Genomic | GenBank:CR759846 (1) | 163118 nt | ||
| Polypeptide | UniProtKB:F1QD93 (1) | 521 aa |
- Cao, Z., Meng, Y., Gong, F., Xu, Z., Liu, F., Fang, M., Zou, L., Liao, X., Wang, X., Luo, L., Li, X., Lu, H. (2021) Calcineurin controls proximodistal blastema polarity in zebrafish fin regeneration. Proceedings of the National Academy of Sciences of the United States of America. 118(2):
- Wiweger, M., Majewski, L., Adamek-Urbanska, D., Wasilewska, I., Kuznicki, J. (2021) npc2-Deficient Zebrafish Reproduce Neurological and Inflammatory Symptoms of Niemann-Pick Type C Disease. Frontiers in Cellular Neuroscience. 15:647860
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Hammond, D.R., and Udvadia, A.J. (2010) Cabin1 expression suggests roles in neuronal development. Developmental Dynamics : an official publication of the American Association of Anatomists. 239(9):2443-2451
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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