Gene
actn1
- ID
- ZDB-GENE-081113-4
- Name
- actinin, alpha 1
- Symbol
- actn1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization and muscle cell development. Predicted to be located in cytoplasm. Predicted to be active in several cellular components, including Z disc; actin cytoskeleton; and cell junction. Is expressed in several structures, including head muscle; intestine; nervous system; ovary; and ventral intermandibularis anterior. Human ortholog(s) of this gene implicated in platelet-type bleeding disorder 15. Orthologous to human ACTN1 (actinin alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- 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
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| platelet-type bleeding disorder 15 | Alliance | Bleeding disorder, platelet-type, 15 | 615193 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | EF-Hand 1, calcium-binding site | EF-hand, Ca insensitive | EF-hand domain | EF-hand domain pair | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AZC5 | InterPro | 897 | |||||||||
| UniProtKB:A0A8M9QJP5 | InterPro | 654 | |||||||||
| UniProtKB:A0A8M2B3U1 | InterPro | 924 | |||||||||
| UniProtKB:A0A8M3B5E5 | InterPro | 897 | |||||||||
| UniProtKB:A0A8M3B867 | InterPro | 902 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
actn1-202
(1)
|
Ensembl | 3,658 nt | ||
| aberrant processed transcript |
actn1-203
(1)
|
Ensembl | 993 nt | ||
| mRNA |
actn1-201
(1)
|
Ensembl | 3,664 nt | ||
| mRNA |
actn1-205
(1)
|
Ensembl | 3,981 nt | ||
| ncRNA |
actn1-004
(1)
|
Ensembl | 932 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-22K11 | ZFIN Curated Data | |
| Encodes | EST | wz13285 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001168286 (1) | 3675 nt | ||
| Genomic | GenBank:CR361558 (1) | 204631 nt | ||
| Polypeptide | UniProtKB:A0A8M2B3U1 (1) | 924 aa |
- Li, M., Wang, R., Yan, T., Tao, X., Gao, S., Wang, Z., Chai, Y., Qiu, S., Chen, W. (2024) Dual effects of DLG5 (disks large homolog 5 gene) modulation on chemotherapy-induced thrombocytopenia and nausea/vomiting via the hippo signalling pathway. British journal of pharmacology. 182(4):1090-1106
- 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
- Shim, H., Kim, J.H., Kim, C.Y., Hwang, S., Kim, H., Yang, S., Lee, J.E., Lee, I. (2016) Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource. Nucleic acids research. 44:9611-9623
- 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
- Mercer, S., Odelberg, S.J., and Simon, H.G. (2013) A dynamic spatiotemporal extracellular matrix facilitates epicardial-mediated vertebrate heart regeneration. Developmental Biology. 382(2):457-469
- Gupta, V., Discenza, M., Guyon, J.R., Kunkel, L.M., and Beggs, A.H. (2012) α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 26(5):1892-1908
- Moore, F.E., Reyon, D., Sander, J.D., Martinez, S.A., Blackburn, J.S., Khayter, C., Ramirez, C.L., Joung, J.K., and Langenau, D.M. (2012) Improved Somatic Mutagenesis in Zebrafish Using Transcription Activator-Like Effector Nucleases (TALENs). PLoS One. 7(5):e37877
- Sander, J.D., Dahlborg, E.J., Goodwin, M.J., Cade, L., Zhang, F., Cifuentes, D., Curtin, S.J., Blackburn, J.S., Thibodeau-Beganny, S., Qi, Y., Pierick, C.J., Hoffman, E., Maeder, M.L., Khayter, C., Reyon, D., Dobbs, D., Langenau, D.M., Stupar, R.M., Giraldez, A.J., Voytas, D.F., Peterson, R.T., Yeh, J.R., Joung, J.K. (2011) Selection-free zinc-finger-nuclease engineering by context-dependent assembly (CoDA). Nature Methods. 8:67-9
- Holterhoff, C.K., Saunders, R.H., Brito, E.E., and Wagner, D.S. (2009) Sequence and expression of the zebrafish alpha-actinin gene family reveals conservation and diversification among vertebrates. Developmental Dynamics : an official publication of the American Association of Anatomists. 238(11):2936-2947
- Geisler, R., Rauch, G.J., Baier, H., van Bebber, F., Brobeta, L., Dekens, M.P., Finger, K., Fricke, C., Gates, M.A., Geiger, H., Geiger-Rudolph, S., Gilmour, D., Glaser, S., Gnugge, L., Habeck, H., Hingst, K., Holley, S., Keenan, J., Kirn, A., Knaut, H., Lashkari, D., Maderspacher, F., Martyn, U., Neuhauss, S., Neumann, C., Nicolson, T., Pelegri, F., Ray, R., Rick, J.M., Roehl, H., Roeser, T., Schauerte, H.E., Schier, A.F., Schönberger, U., Schönthaler, H.-B., Schulte-Merker, S., Seydler, C., Talbot, W.S., Weiler, C., Nüsslein-Volhard, C., and Haffter, P. (1999) A radiation hybrid map of the zebrafish genome. Nature Genetics. 23(1):86-89
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