Gene
vcla
- ID
- ZDB-GENE-050506-61
- Name
- vinculin a
- Symbol
- vcla Nomenclature History
- Previous Names
-
- vcl
- hm:zehn2160
- im:6902790
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable alpha-catenin binding activity and beta-catenin binding activity. Involved in heart contraction. Acts upstream of or within atrioventricular valve morphogenesis; membrane repolarization during cardiac muscle cell action potential; and sarcomere organization. Located in adherens junction. Is active in focal adhesion. Is expressed in several structures, including heart; lens; pectoral fin; solid lens vesicle; and somite. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1W; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 15. Orthologous to human VCL (vinculin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6902790 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| bns241 | Allele with one deletion | Exon 8 | Premature Stop | CRISPR | |
| bns300 | Allele with one insertion | Exon 22 | Unknown | CRISPR | |
| bns605 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| hu10818 | Allele with one deletion | Exon 4 | Frameshift, Premature Stop | TALEN | |
| la018484Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa10865 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14599 | Allele with one point mutation | Exon 12 | Premature Stop | ENU | |
| sa35485 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-vcla | (3) | |
| CRISPR2-vcla | El-Brolosy et al., 2019 | |
| CRISPR3-vcla | Jiang et al., 2022 | |
| CRISPR4-vcla | Jiang et al., 2022 | |
| MO1-vcla | N/A | (3) |
| MO2-vcla | N/A | Vogel et al., 2009 |
| MO3-vcla | N/A | Boutillon et al., 2022 |
| TALEN1-vcla | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dilated cardiomyopathy 1W | Alliance | Cardiomyopathy, dilated, 1W | 611407 |
| hypertrophic cardiomyopathy 15 | Alliance | Cardiomyopathy, hypertrophic, 15 | 613255 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha-catenin/vinculin-like superfamily | Vinculin | Vinculin/alpha-catenin | Vinculin, conserved site |
|---|---|---|---|---|---|---|
| UniProtKB:F6NHA0 | InterPro | 1066 | ||||
| UniProtKB:A0A8M2B3M1 | InterPro | 1130 | ||||
| UniProtKB:A0A8M9QJN2 | InterPro | 1067 | ||||
| UniProtKB:B3DI32 | InterPro | 1131 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab6-vcl | monoclonal | IgG1 | Mouse |
|
Sigma-Aldrich
|
15 |
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Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(myl7:vcla-EGFP) |
|
| 1 | (2) | |
| Tg(UAS:dnvcla-GFP) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-188I15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-231F24 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-252G6 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6902790 | Thisse et al., 2004 | |
| Encodes | EST | zehn2160 | ||
| Encodes | cDNA | MGC:194417 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001128681 (1) | 3540 nt | ||
| Genomic | GenBank:CR788251 (1) | 150523 nt | ||
| Polypeptide | UniProtKB:B3DI32 (1) | 1131 aa |
- Zhao, C., Li, J., Hu, Y., Li, L., Yu, M., Huang, Y., Zhang, T., Shang, H., Zou, Z. (2024) (+)/(-)-Gerbeloid A, a pair of unprecedented coumarin-based polycyclic meroterpenoid enantiomers from Gerbera piloselloides: Structural elucidation, semi-synthesis, and lipid-lowering activity. Acta pharmaceutica Sinica. B. 14:265726682657-2668
- Ruijmbeek, C.W., Housley, F., Idrees, H., Housley, M.P., Pestel, J., Keller, L., Lai, J.K.H., van der Linde, H.C., Willemsen, R., Piesker, J., Al-Hassnan, Z.N., Almesned, A., Dalinghaus, M., van den Bersselaar, L.M., van Slegtenhorst, M.A., Tessadori, F., Bakkers, J., van Ham, T.J., Stainier, D.Y., Verhagen, J.M., Reischauer, S. (2023) Bi-allelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization. JCI insight. 8(17):
- Boutillon, A., Escot, S., Elouin, A., Jahn, D., González-Tirado, S., Starruß, J., Brusch, L., David, N.B. (2022) Guidance by followers ensures long-range coordination of cell migration through α-catenin mechanoperception. Developmental Cell. 57(12):1529-1544.e5
- Jiang, Z., El-Brolosy, M.A., Serobyan, V., Welker, J.M., Retzer, N., Dooley, C.M., Jakutis, G., Juan, T., Fukuda, N., Maischein, H.M., Balciunas, D., Stainier, D.Y.R. (2022) Parental mutations influence wild-type offspring via transcriptional adaptation. Science advances. 8:eabj2029
- Kotini, M.P., van der Stoel, M.M., Yin, J., Han, M.K., Kirchmaier, B., de Rooij, J., Affolter, M., Huveneers, S., Belting, H.G. (2022) Vinculin controls endothelial cell junction dynamics during vascular lumen formation. Cell Reports. 39:110658
- van der Stoel, M.M., Kotini, M.P., Schoon, R.M., Affolter, M., Belting, H.G., Huveneers, S. (2022) Vinculin strengthens the endothelial barrier during vascular development. Vascular biology (Bristol, England). 5(1)
- El-Brolosy, M.A., Kontarakis, Z., Rossi, A., Kuenne, C., Günther, S., Fukuda, N., Kikhi, K., Boezio, G.L.M., Takacs, C.M., Lai, S.L., Fukuda, R., Gerri, C., Giraldez, A.J., Stainier, D.Y.R. (2019) Genetic compensation triggered by mutant mRNA degradation. Nature. 568(7751):193-197
- Fukuda, R., Gunawan, F., Ramadass, R., Beisaw, A., Konzer, A., Mullapudi, S.T., Gentile, A., Maischein, H.M., Graumann, J., Stainier, D.Y.R. (2019) Mechanical Forces Regulate Cardiomyocyte Myofilament Maturation via the VCL-SSH1-CFL Axis. Developmental Cell. 51(1):62-77.e5
- Gunawan, F., Gentile, A., Fukuda, R., Tsedeke, A.T., Jiménez-Amilburu, V., Ramadass, R., Iida, A., Sehara-Fujisawa, A., Stainier, D.Y.R. (2019) Focal adhesions are essential to drive zebrafish heart valve morphogenesis. The Journal of cell biology. 218(3):1039-1054
- 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
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