Gene
obscnb
- ID
- ZDB-GENE-070119-5
- Name
- obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF b
- Symbol
- obscnb Nomenclature History
- Previous Names
-
- obscnl
- obscurin A (1)
- si:rp71-18a8.2
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Involved in skeletal myofibril assembly. Acts upstream of or within myofibril assembly and retina development in camera-type eye. Located in M band. Is expressed in central nervous system; heart; retinal neural layer; 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
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| umu16 | Allele with one delins | Exon 2 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-obscnb | Kahsay et al., 2024 | |
| MO1-obscnb | N/A | Raeker et al., 2006 |
| MO2-obscnb | N/A | (3) |
| MO3-obscnb | N/A | (2) |
| MO4-obscnb | N/A | Raeker et al., 2010 |
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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
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
obscnb-201
(1)
|
Ensembl | 4,440 nt | ||
| mRNA |
obscnb-202
(1)
|
Ensembl | 586 nt | ||
| mRNA |
obscnb-203
(1)
|
Ensembl | 3,255 nt | ||
| mRNA |
obscnb-204
(1)
|
Ensembl | 4,979 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-obscnl | polyclonal | IgG | Rabbit |
|
2 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | RP71-18A8 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| Genomic | GenBank:CR792456 (1) | 84852 nt |
- 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
- Baek, J.I., Kwon, S.H., Zuo, X., Kwon, S.Y., Kim, S.H., Lipschutz, J.H. (2016) Dynamin Binding Protein (Tuba) deficiency inhibits ciliogenesis and nephrogenesis in vitro and in vivo. The Journal of biological chemistry. 291(16):8632-43
- 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.Ö., and Russell, M.W. (2011) Obscurin depletion impairs organization of skeletal muscle in developing zebrafish embryos. Journal of biomedicine & biotechnology. 2011:479135
- Raeker, M.O., Bieniek, A.N., Ryan, A.S., Tsai, H.J., Zahn, K.M., and Russell, M.W. (2010) Targeted deletion of the zebrafish obscurin A RhoGEF domain affects heart, skeletal muscle and brain development. Developmental Biology. 337(2):432-443
- 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
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