Gene
flii
- ID
- ZDB-GENE-071212-3
- Name
- FLII actin remodeling protein
- Symbol
- flii Nomenclature History
- Previous Names
-
- im:7141769
- 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. Acts upstream of or within sarcomere organization. Predicted to be located in centrosome and focal adhesion. Predicted to be active in actin cytoskeleton; cytoplasm; and nucleus. Is expressed in myotome. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human FLII (FLII actin remodeling protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7141769 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Naganawa et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| mi372 | Allele with one point mutation | Acceptor Splice Site of Exon 5 | Premature Stop | ENU | |
| re28 | Allele with one deletion | Exon 12 | Unknown | CRISPR | |
| re29 | Allele with one MNV | Exon 27 | Unknown | CRISPR | |
| re30 | Allele with one MNV | Exon 30 | Unknown | CRISPR | |
| sa9399 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12788 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-flii | Ruijmbeek et al., 2023 | |
| CRISPR2-flii | Ruijmbeek et al., 2023 | |
| CRISPR3-flii | Ruijmbeek et al., 2023 | |
| CRISPR4-flii | Rodríguez-Ruiz et al., 2023 | |
| MO1-flii | N/A | Naganawa et al., 2011 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cardiomyopathy, dilated, 2J | 620635 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR007123 | Gelsolin-like domain |
| Family | IPR007122 | Villin/Gelsolin |
| Homologous_superfamily | IPR029006 | ADF-H/Gelsolin-like domain superfamily |
| Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
| Homologous_superfamily | IPR036180 | Gelsolin-like domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Gelsolin-like domain superfamily | Leucine-rich repeat | Leucine rich repeat 4 | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype | Villin/Gelsolin |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F8WK50 | InterPro | 1259 |
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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-19E10 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7141769 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001257146 (1) | 3878 nt | ||
| Genomic | GenBank:BX649547 (1) | 237569 nt | ||
| Polypeptide | UniProtKB:F8WK50 (1) | 1259 aa |
- Rodríguez-Ruiz, L., Lozano-Gil, J.M., Naranjo-Sánchez, E., Martínez-Balsalobre, E., Martínez-López, A., Lachaud, C., Blanquer, M., Phung, T.K., García-Moreno, D., Cayuela, M.L., Tyrkalska, S.D., Pérez-Oliva, A.B., Mulero, V. (2023) ZAKα/P38 kinase signaling pathway regulates hematopoiesis by activating the NLRP1 inflammasome. EMBO Molecular Medicine. 15(10):e18142
- 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):
- 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
- 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
- Naganawa, Y., and Hirata, H. (2011) Developmental transition of touch response from slow muscle-mediated coilings to fast muscle-mediated burst swimming in zebrafish. Developmental Biology. 355(2):194-204
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