Gene
actc1a
- ID
- ZDB-GENE-040520-4
- Name
- actin alpha cardiac muscle 1a
- Symbol
- actc1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Acts upstream of or within atrioventricular canal development and endocardial cushion formation. Predicted to be located in nucleus. Predicted to be active in actin cytoskeleton. Is expressed in adaxial cell; brain; muscle; pericardial region; and trunk. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-actc1a | N/A | Glenn et al., 2012 |
| MO2-actc1a | N/A | Sztal et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| atrial heart septal defect 5 | Alliance | Atrial septal defect 5 | 612794 |
| dilated cardiomyopathy 1R | Alliance | Cardiomyopathy, dilated, 1R | 613424 |
| dilated cardiomyopathy 1R | Alliance | Left ventricular noncompaction 4 | 613424 |
| hypertrophic cardiomyopathy 11 | Alliance | Cardiomyopathy, hypertrophic, 11 | 612098 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|---|
| UniProtKB:F1RCB6 | InterPro PDB | 377 | ||||
| UniProtKB:Q6IQR3 | InterPro | 377 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
actc1a-201
(1)
|
Ensembl | 1,308 nt | ||
| mRNA |
actc1a-202
(1)
|
Ensembl | 1,558 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-81B15 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:86651 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001001409 (1) | 1331 nt | ||
| Genomic | GenBank:BX248136 (2) | 222316 nt | ||
| Polypeptide | UniProtKB:F1RCB6 (1) | 377 aa |
- Carey, C.M., Hollins, H.L., Schmid, A.V., Gagnon, J.A. (2024) Distinct features of the regenerating heart uncovered through comparative single-cell profiling. Biology Open. 13(4):
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Park, S.J., Silic, M.R., Staab, P.L., Chen, J., Zackschewski, E.L., Zhang, G. (2024) Evolution of two-pore domain potassium channels and their gene expression in zebrafish embryos. Developmental Dynamics : an official publication of the American Association of Anatomists. 253(8):722-749
- Bradshaw, M., Squire, J.M., Morris, E., Atkinson, G., Richardson, R., Lees, J., Caputo, M., Bigotti, G.M., Paul, D.M. (2023) Zebrafish as a model for cardiac disease; Cryo-EM structure of native cardiac thin filaments from Danio Rerio. Journal of muscle research and cell motility. 44(3):179-192
- Liu, L., Fei, F., Zhang, R., Wu, F., Yang, Q., Wang, F., Sun, S., Zhao, H., Li, Q., Wang, L., Wang, Y., Gui, Y., Wang, X. (2019) Combinatorial genetic replenishments in myocardial and outflow tract tissues restore heart function in tnnt2 mutant zebrafish. Biology Open. 8(12):
- Posner, M., McDonald, M.S., Murray, K.L., Kiss, A.J. (2019) Why does the zebrafish cloche mutant develop lens cataract?. PLoS One. 14:e0211399
- Witjes, L., Van Troys, M., Vandekerckhove, J., Vandepoele, K., Ampe, C. (2019) A new evolutionary model for the vertebrate actin family including two novel groups. Molecular phylogenetics and evolution. 141:106632
- Cai, C., Sang, C., Du, J., Jia, H., Tu, J., Wan, Q., Bao, B., Xie, S., Huang, Y., Li, A., Li, J., Yang, K., Wang, S., Lu, Q. (2018) Knockout of tnni1b in zebrafish causes defects in atrioventricular valve development via the inhibition of the myocardial wnt signaling pathway. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33(1):696-710
- Ojehomon, M., Alderman, S.L., Sandhu, L., Sutcliffe, S., Van Raay, T., Gillis, T.E., Dawson, J.F. (2018) Identification of the actc1c cardiac actin gene in zebrafish. Progress in Biophysics and Molecular Biology. 138:32-37
- Sztal, T.E., McKaige, E.A., Williams, C., Ruparelia, A.A., Bryson-Richardson, R.J. (2018) Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein. PLoS Genetics. 14:e1007212
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