Gene
dspa
- ID
- ZDB-GENE-030131-2743
- Name
- desmoplakin a
- Symbol
- dspa Nomenclature History
- Previous Names
-
- im:6911953
- sb:cb570
- wu:fc17a08
- wu:fk73d01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable structural molecule activity. Involved in desmosome organization; establishment of skin barrier; and heart development. Acts upstream of or within camera-type eye development; fin regeneration; and heart contraction. Predicted to be located in cytoskeleton; desmosome; and membrane. Predicted to be active in cytoplasm; intercalated disc; and plasma membrane. Predicted to colocalize with intermediate filament. Is expressed in several structures, including EVL; digestive system; ectoderm; epidermis; and pectoral fin. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; dilated cardiomyopathy; and keratosis palmoplantaris striata 2. Orthologous to human DSP (desmoplakin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb570 (10 images)
- IMAGE:6911953 (6 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la028747Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa302 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13356 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19650 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19651 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30809 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38306 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39744 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 8 of 8
Show
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-dspa | Buono et al., 2021 | |
| CRISPR2-dspa | Buono et al., 2021 | |
| CRISPR3-dspa | Ha et al., 2022 | |
| CRISPR4-dspa | Ha et al., 2022 | |
| CRISPR5-dspa | Ha et al., 2022 | |
| MO1-dspa | N/A | (2) |
| MO2-dspa | N/A | Giuliodori et al., 2018 |
| MO3-dspa | N/A | Elfatih et al., 2022 |
1 - 8 of 8
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 8 | Alliance | Arrhythmogenic right ventricular dysplasia 8 | 607450 |
| Carvajal syndrome | Alliance | Cardiomyopathy, dilated, with woolly hair and keratoderma | 605676 |
| keratosis palmoplantaris striata 2 | Alliance | Keratosis palmoplantaris striata II | 612908 |
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | 615821 | ||
| Epidermolysis bullosa, lethal acantholytic | 609638 |
1 - 5 of 5
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | Plakin | Plakin repeat superfamily | Plectin repeat | Spectrin/alpha-actinin |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BID5 | InterPro | 2059 | ||||||
| UniProtKB:A0AB13A959 | InterPro | 2059 | ||||||
| UniProtKB:A0AB13A9N6 | InterPro | 2502 |
1 - 3 of 3
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-264D1 | ZFIN Curated Data | |
| Contained in | BAC | CH73-325J23 | ZFIN Curated Data | |
| Contained in | BAC | CH211-163F10 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-208A8 | ZFIN Curated Data | |
| Contains | SNP | rs3727584 | ZFIN Curated Data | |
| Encodes | EST | cb570 | Thisse et al., 2001 | |
| Encodes | EST | fc17a08 | ||
| Encodes | EST | fk73d01 | ||
| Encodes | EST | IMAGE:6911953 | Thisse et al., 2004 | |
| Encodes | EST | fb65a04 | ZFIN Curated Data |
1 - 10 of 10
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001423755 (1) | 8586 nt | ||
| Genomic | GenBank:AL929518 | 162473 nt | ||
| Polypeptide | UniProtKB:A0AB13A9N6 (1) | 2502 aa |
- Celeghin, R., Risato, G., Beffagna, G., Cason, M., Bueno Marinas, M., Della Barbera, M., Facchinello, N., Giuliodori, A., Brañas Casas, R., Caichiolo, M., Vettori, A., Grisan, E., Rizzo, S., Dalla Valle, L., Argenton, F., Thiene, G., Tiso, N., Pilichou, K., Basso, C. (2023) A novel DSP zebrafish model reveals training- and drug-induced modulation of arrhythmogenic cardiomyopathy phenotypes. Cell death discovery. 9:441441
- Elfatih, A., Da'as, S.I., Abdelrahman, D., Mbarek, H., Mohammed, I., Hasan, W., Fakhro, K.A., Estivill, X., Mifsud, B., Qatar Genome Program Research Consortium (2022) Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP. Human molecular genetics. 31(16):2796-2809
- Ha, J., Kim, B.S., Min, B., Nam, J., Lee, J.G., Lee, M., Yoon, B.H., Choi, Y.H., Im, I., Park, J.S., Choi, H., Baek, A., Cho, S.M., Lee, M.O., Nam, K.H., Mun, J.Y., Kim, M., Kim, S.Y., Son, M.Y., Kang, Y.K., Lee, J.S., Kim, J.K., Kim, J. (2022) Intermediate cells of in vitro cellular reprogramming and in vivo tissue regeneration require desmoplakin. Science advances. 8:eabk1239
- Buono, L., Corbacho, J., Naranjo, S., Almuedo-Castillo, M., Moreno-Marmol, T., de la Cerda, B., Sanbria-Reinoso, E., Polvillo, R., Díaz-Corrales, F.J., Bogdanovic, O., Bovolenta, P., Martínez-Morales, J.R. (2021) Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish. Nature communications. 12:3866
- Giuliodori, A., Beffagna, G., Marchetto, G., Fornetto, C., Vanzi, F., Toppo, S., Facchinello, N., Santimaria, M., Vettori, A., Rizzo, S., Della Barbera, M., Pilichou, K., Argenton, F., Thiene, G., Tiso, N., Basso, C. (2018) Loss of cardiac Wnt/β-catenin signalling in Desmoplakin-deficient AC8 zebrafish models is rescuable by genetic and pharmacological intervention. Cardiovascular research. 114(8):1082-1097
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Mihaljevic, I., Popovic, M., Zaja, R., Smital, T. (2016) Phylogenetic, syntenic, and tissue expression analysis of slc22 genes in zebrafish (Danio rerio). BMC Genomics. 17:626
- 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
- Shih, Y.H., Zhang, Y., Ding, Y., Ross, C.A., Li, H., Olson, T.M., Xu, X. (2015) Cardiac Transcriptome and Dilated Cardiomyopathy Genes in Zebrafish. Circulation. Cardiovascular genetics. 8(2):261-9
- 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
1 - 10 of 14
Show