Gene
ppl
- ID
- ZDB-GENE-041008-196
- Name
- periplakin
- Symbol
- ppl Nomenclature History
- Previous Names
-
- cb180 (1)
- im:7140067
- im:7149519
- sb:cb180
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable structural molecule activity. Predicted to be involved in intermediate filament cytoskeleton organization and wound healing. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm and membrane. Predicted to colocalize with intermediate filament. Is expressed in several structures, including EVL; digestive system; fin; periderm; and sensory system. Orthologous to human PPL (periplakin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb180 (7 images)
- IMAGE:7140067 (6 images)
- IMAGE:7149519 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Inaba et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la229 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa16429 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16489 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17491 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20080 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25257 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa33247 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ppl | Inaba et al., 2020 | |
| CRISPR2-ppl | Inaba et al., 2020 | |
| MO1-ppl | N/A | Inaba et al., 2020 |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Desmoplakin, SH3 domain | Plakin | Plakin repeat superfamily | Plectin repeat | SH3 domain | Spectrin/alpha-actinin |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0R4IAS2 | InterPro | 1754 | ||||||
| UniProtKB:A0A286YAI4 | InterPro | 1752 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-214K13 | ZFIN Curated Data | |
| Encodes | EST | cb180 | Thisse et al., 2001 | |
| Encodes | EST | IMAGE:7140067 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7149519 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001137666 (1) | 5899 nt | ||
| Genomic | GenBank:BX908771 (1) | 114109 nt | ||
| Polypeptide | UniProtKB:A0A0R4IAS2 (1) | 1754 aa |
- Lukowicz-Bedford, R.M., Farnsworth, D.R., Miller, A.C. (2022) Connexinplexity: The spatial and temporal expression of connexin genes during vertebrate organogenesis. G3 (Bethesda). 12(5):
- Inaba, Y., Chauhan, V., van Loon, A.P., Choudhury, L.S., Sagasti, A. (2020) Keratins and Plakin family cytolinker proteins control the length of epithelial microridge protrusions. eLIFE. 9:
- Liu, H., Duncan, K., Helverson, A., Kumari, P., Mumm, C., Xiao, Y., Carlson, J.C., Darbellay, F., Visel, A., Leslie, E., Breheny, P., Erives, A.J., Cornell, R.A. (2020) Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18. eLIFE. 9:
- Mathiyalagan, N., Miles, L.B., Anderson, P.J., Wilanowski, T., Grills, B.L., McDonald, S.J., Keightley, M.C., Charzynska, A., Dabrowski, M., Dworkin, S. (2019) Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways. Genes. 10(11)
- 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
- de la Garza, G., Schleiffarth, J.R., Dunnwald, M., Mankad, A., Weirather, J.L., Bonde, G., Butcher, S., Mansour, T.A., Kousa, Y.A., Fukazawa, C.F., Houston, D.W., Manak, J.R., Schutte, B.C., Wagner, D.S., and Cornell, R.A. (2013) Interferon Regulatory Factor 6 Promotes Differentiation of the Periderm by Activating Expression of Grainyhead-Like 3. The Journal of investigative dermatology. 133(1):68-77
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