Gene
svilc
- ID
- ZDB-GENE-041008-237
- Name
- supervillin c
- Symbol
- svilc Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament severing; actin polymerization or depolymerization; and barbed-end actin filament capping. Predicted to act upstream of or within cytoskeleton organization. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in anterior macula; hair cell; inner ear; posterior crista; and posterior macula. Human ortholog(s) of this gene implicated in myofibrillar myopathy 10. Orthologous to human SVIL (supervillin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Pollock et al., 2016
- 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 |
|---|---|---|---|---|---|
| sa9049 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa20089 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38405 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40124 | 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 |
|---|---|---|---|
| myofibrillar myopathy 10 | Alliance | Myofibrillar myopathy 10 | 619040 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Villin/Gelsolin | Villin headpiece | Villin headpiece domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:X1WDI1 | InterPro | 1531 | |||||
| UniProtKB:A0A8M9Q5I0 | InterPro | 1533 | |||||
| UniProtKB:A0A8M9PZL6 | InterPro | 1508 | |||||
| UniProtKB:A0A8M2BBA7 | InterPro | 1482 | |||||
| UniProtKB:A0A8M9PGJ6 | InterPro | 1513 | |||||
| UniProtKB:A0A8M2BBQ1 | InterPro | 1425 | |||||
| UniProtKB:A0A8M3AY77 | InterPro | 1532 | |||||
| UniProtKB:A0A8M9PTM3 | InterPro | 1510 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:dkeyp-57f11.2-201
(1)
|
Ensembl | 832 nt | ||
| mRNA |
si:dkeyp-57f11.2-202
(1)
|
Ensembl | 4,901 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-57F11 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7142403 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021474702 (1) | 7154 nt | ||
| Genomic | GenBank:CR392006 (1) | 99278 nt | ||
| Polypeptide | UniProtKB:A0A8M9Q5I0 (1) | 1533 aa |
- Comparative Orthology
- Alliance
- Zhang, X., Yang, Y., Wei, Y., Zhao, Q., Lou, X. (2022) Blf and drl cluster synergistically regulate cell fate commitment during zebrafish primitive hematopoiesis. Development (Cambridge, England). 149(24)
- 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
- 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
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