Gene
obscna
- ID
- ZDB-GENE-040812-4
- Name
- obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF a
- Symbol
- obscna Nomenclature History
- Previous Names
-
- obscn
- obscurin-MLCK (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within muscle organ development. Located in Z disc. Is expressed in central nervous system; heart; skeletal muscle; and skeletal muscle cell. Orthologous to human OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Raeker et al., 2006
- 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 |
|---|---|---|---|---|---|
| sa1045 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa1115 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12781 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12899 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17011 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21250 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41172 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| umu23 | Allele with one insertion | Exon 2 | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| {Rhabdomyolysis, susceptibility to, 1} | 620235 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Dbl homology (DH) domain superfamily | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Immunoglobulin V-set domain | IQ motif, EF-hand binding site | Obscurin and Obscurin-like Regulators | PH-like domain superfamily | Pleckstrin homology domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | SH3 domain | SOS1/NGEF-like, PH domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PRA7 | InterPro | 4283 | ||||||||||||||||||||
| UniProtKB:A0A8M6Z870 | InterPro | 6704 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
obscna-201
(1)
|
Ensembl | 6,339 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 | CH211-284D14 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003849 (1) | 5923 nt | ||
| Genomic | GenBank:AL844185 (1) | 180872 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z870 (1) | 6704 aa |
- Kahsay, A., Dennhag, N., Liu, J.X., Nord, H., Rönnbäck, H., Thorell, A.E., von Hofsten, J., Pedrosa Domellöf, F. (2024) Obscurin Maintains Myofiber Identity in Extraocular Muscles. Investigative ophthalmology & visual science. 65:1919
- Arcanjo, C., Armant, O., Floriani, M., Cavalie, I., Camilleri, V., Simon, O., Orjollet, D., Adam-Guillermin, C., Gagnaire, B. (2018) Tritiated water exposure disrupts myofibril structure and induces mis-regulation of eye opacity and DNA repair genes in zebrafish early life stages. Aquatic toxicology (Amsterdam, Netherlands). 200:114-126
- 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
- Raeker, M.O., Su, F., Geisler, S.B., Borisov, A.B., Kontrogianni-Konstantopoulos, A., Lyons, S.E., and Russell, M.W. (2006) Obscurin is required for the lateral alignment of striated myofibrils in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 235(8):2018-2029
- Sutter, S.B., Raeker, M.O., Borisov, A.B., and Russell, M.W. (2004) Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases. Development genes and evolution. 214(7):352-359
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