Gene
pkp1a
- ID
- ZDB-GENE-110411-77
- Name
- plakophilin 1a
- Symbol
- pkp1a Nomenclature History
- Previous Names
-
- si:ch1073-182o11.2
- si:ch73-187i15.1
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- null
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa43910 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ectodermal dysplasia/skin fragility syndrome | 604536 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Plakophilin/Delta catenin |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9P5B3 | InterPro | 765 |
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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 | CH73-187I15 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-182O11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021469887 (1) | 2913 nt | ||
| Genomic | GenBank:CU928303 (1) | 101120 nt | ||
| Polypeptide | UniProtKB:A0A8M9P5B3 (1) | 765 aa |
- Fukuda, R., Gunawan, F., Beisaw, A., Jimenez-Amilburu, V., Maischein, H.M., Kostin, S., Kawakami, K., Stainier, D.Y. (2017) Proteolysis regulates cardiomyocyte maturation and tissue integration. Nature communications. 8:14495
- 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
- Liu, C., Hu, J., Qu, C., Wang, L., Huang, G., Niu, P., Zhong, Z., Hong, F., Wang, G., Postlethwait, J.H., Wang, H. (2015) Molecular evolution and functional divergence of zebrafish (Danio rerio) cryptochrome genes. Scientific Reports. 5:8113
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