Gene
pkp1b
- ID
- ZDB-GENE-030131-417
- Name
- plakophilin 1b
- Symbol
- pkp1b Nomenclature History
- Previous Names
-
- pkp1
- fb30d08
- wu:fb30d08
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable cadherin binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within cell adhesion. Predicted to be active in several cellular components, including adherens junction; nucleus; and plasma membrane. Is expressed in EVL; otic vesicle; peripheral olfactory organ; and pharyngeal arch. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152279 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la025681Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la025682Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa40802 | Allele with one point mutation | Unknown | Premature Stop | 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 | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Plakophilin/Delta catenin |
|---|---|---|---|---|---|
|
UniProtKB:E7FBR0
|
736 |
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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-70O1 | ZFIN Curated Data | |
| Encodes | EST | fb30d08 | ||
| Encodes | EST | IMAGE:7152279 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001338263 (1) | 2820 nt | ||
| Genomic | GenBank:CR847929 (2) | 198536 nt | ||
| Polypeptide | UniProtKB:E7FBR0 (1) | 736 aa |
- 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
- Rodius, S., Nazarov, P.V., Nepomuceno-Chamorro, I.A., Jeanty, C., González-Rosa, J.M., Ibberson, M., da Costa, R.M., Xenarios, I., Mercader, N., Azuaje, F. (2014) Transcriptional response to cardiac injury in the zebrafish: systematic identification of genes with highly concordant activity across in vivo models. BMC Genomics. 15:852
- 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
- 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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