Gene
svila
- ID
- ZDB-GENE-990706-5
- Name
- supervillin a
- Symbol
- svila Nomenclature History
- Previous Names
-
- svil
- sb:cb867
- wu:fd05a09
- zmp:0000000648 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity. Predicted to be involved in cytoskeleton organization. Is expressed in several structures, including adaxial cell; cardiovascular system; musculature system; optic vesicle; and sensory system. Orthologous to human SVIL (supervillin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb867 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Deo et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
la010120Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la012156Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa11202 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa12766 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa14626 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa14627 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa14853 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa17102 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa17252 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa38892 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
myofibrillar myopathy 10 | Alliance | Myofibrillar myopathy 10 | 619040 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Villin/Gelsolin | Villin headpiece | Villin headpiece domain superfamily |
---|---|---|---|---|---|---|
UniProtKB:A0A8M9Q864
|
2239 | |||||
UniProtKB:A0A8M9QII8
|
2264 | |||||
UniProtKB:A0A8M9QE30
|
2208 | |||||
UniProtKB:A0A8M9PW23
|
2241 | |||||
UniProtKB:A0A8M9QIJ4
|
1847 |
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Interactions and Pathways
No data available
Plasmids
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-191J18 | ZFIN Curated Data | |
Contained in | BAC | CH211-203C7 | ZFIN Curated Data | |
Encodes | EST | cb867 | Thisse et al., 2001 | |
Encodes | EST | fd05a09 | ||
Encodes | EST | IMAGE:2600647 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001430943 (1) | 7901 nt | ||
Genomic | GenBank:BX511144 (1) | 185993 nt | ||
Polypeptide | UniProtKB:A0A8M9QII8 (1) | 2264 aa |
- Comparative Orthology
- Alliance
- 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
- Pollock, L.M., Gupta, N., Chen, X., Luna, E.J., McDermott, B.M. (2016) Supervillin Is a Component of the Hair Cell's Cuticular Plate and the Head Plates of Organ of Corti Supporting Cells. PLoS One. 11:e0158349
- 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
- Deo, R.C., Musso, G., Tasan, M., Tang, P., Poon, A., Yuan, C., Felix, J.F., Vasan, R.S., Beroukhim, R., De Marco, T., Kwok, P.Y., MacRae, C.A., Roth, F.P. (2014) Prioritizing causal disease genes using unbiased genomic features. Genome biology. 15:534
- 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
- Gallagher, T.L., Arribere, J.A., Geurts, P.A., Exner, C.R., McDonald, K.L., Dill, K.K., Marr, H.L., Adkar, S.S., Garnett, A.T., Amacher, S.L., and Conboy, J.G. (2011) Rbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions. Developmental Biology. 359(2):251-61
- Lam, S.H., Lee, S.G., Lin, C.Y., Thomsen, J.S., Fu, P.Y., Murthy, K.R., Li, H., Govindarajan, K.R., Nick, L.C., Bourque, G., Gong, Z., Lufkin, T., Liu, E.T., and Mathavan, S. (2011) Molecular conservation of estrogen-response associated with cell cycle regulation, hormonal carcinogenesis and cancer in zebrafish and human cancer cell lines. BMC Medical Genomics. 4(1):41
- Wong, K.S., Proulx, K., Rost, M.S., and Sumanas, S. (2009) Identification of vasculature-specific genes by microarray analysis of etsrp/etv2 overexpressing zebrafish embryos. Developmental Dynamics : an official publication of the American Association of Anatomists. 238(7):1836-1850
- 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
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
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