Gene
ush1c
- ID
- ZDB-GENE-060312-41
- Name
- Usher syndrome 1C
- Symbol
- ush1c Nomenclature History
- Previous Names
-
- harmonin
- zgc:136806
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Acts upstream of or within neuron development; startle response; and synapse organization. Predicted to be located in cell projection. Predicted to be part of stereocilia ankle link complex. Predicted to be active in several cellular components, including cilium; photoreceptor inner segment; and stereocilium tip. Is expressed in brain; hair cell; pleuroperitoneal region; sensory system; and trunk musculature. Used to study Usher syndrome. Human ortholog(s) of this gene implicated in Usher syndrome; Usher syndrome type 1; Usher syndrome type 1C; and autosomal recessive nonsyndromic deafness 18A. Orthologous to human USH1C (USH1 protein network component harmonin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fh293 | Allele with one point mutation | Exon 5 | Premature Stop | ENU | |
| sa9749 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24680 | Allele with one point mutation | Unknown | Missense, Splice Site | ENU | |
| sa39483 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 18A | Alliance | Deafness, autosomal recessive 18A | 602092 |
| Usher syndrome type 1C | Alliance | Usher syndrome, type 1C | 276904 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Harmonin, N-terminal | PDZ domain | PDZ superfamily | Sensory Perception USH2 Complex Protein |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AZQ5 | InterPro | 586 | ||||
| UniProtKB:Q29RC0 | InterPro | 548 | ||||
| UniProtKB:A0AB32TJ22 | InterPro | 973 |
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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-4M3 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136806 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001039929 (1) | 1944 nt | ||
| Genomic | GenBank:CR855275 (1) | 159960 nt | ||
| Polypeptide | UniProtKB:A0AB32TJ22 (1) | 973 aa |
- Qin, W., Liang, F., Lin, S.J., Petree, C., Huang, K., Zhang, Y., Li, L., Varshney, P., Mourrain, P., Liu, Y., Varshney, G.K. (2024) ABE-ultramax for high-efficiency biallelic adenine base editing in zebrafish. Nature communications. 15:56135613
- Shi, T., Beaulieu, M.O., Saunders, L.M., Fabian, P., Trapnell, C., Segil, N., Crump, J.G., Raible, D.W. (2023) Single-cell transcriptomic profiling of the zebrafish inner ear reveals molecularly distinct hair cell and supporting cell subtypes. eLIFE. 12:
- Smith, E.T., Sun, P., Yu, S.K., Raible, D.W., Nicolson, T. (2023) Differential expression of mechanotransduction complex genes in auditory/vestibular hair cells in zebrafish. Frontiers in molecular neuroscience. 16:12748221274822
- Yang, S., Xie, B.L., Dong, X.P., Wang, L.X., Zhu, G.H., Wang, T., Wu, W.J., Lai, R.S., Tao, R., Guan, M.X., Chen, F.Y., Tan, D.H., Deng, Z., Xie, H.P., Zeng, Y., Xiao, Z.A., Xie, D.H. (2023) cdh23 affects congenital hearing loss through regulating purine metabolism. Frontiers in molecular neuroscience. 16:10795291079529
- Charlton-Perkins, M., Almeida, A.D., MacDonald, R.B., Harris, W.A. (2019) Genetic control of cellular morphogenesis in Müller glia. Glia. 67(7):1401-1411
- Blanco-Sánchez, B., Clément, A., Fierro, J., Stednitz, S., Phillips, J.B., Wegner, J., Panlilio, J.M., Peirce, J.L., Washbourne, P., Westerfield, M. (2018) Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. Cell Reports. 25:1281-1291.e4
- Carrington, B., Varshney, G.K., Burgess, S.M., Sood, R. (2015) CRISPR-STAT: an easy and reliable PCR-based method to evaluate target-specific sgRNA activity. Nucleic acids research. 43(22):e157
- Varshney, G.K., Pei, W., LaFave, M.C., Idol, J., Xu, L., Gallardo, V., Carrington, B., Bishop, K., Jones, M., Li, M., Harper, U., Huang, S.C., Prakash, A., Chen, W., Sood, R., Ledin, J., Burgess, S.M. (2015) High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome research. 25(7):1030-42
- Blanco-Sánchez, B., Clément, A., Fierro, J., Washbourne, P., Westerfield, M. (2014) Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis. Disease models & mechanisms. 7:547-59
- Phillips, J.B., Blanco-Sanchez, B., Lentz, J.J., Tallafuss, A., Khanobdee, K., Sampath, S., Jacobs, Z.G., Han, P.F., Mishra, M., Williams, D.S., Keats, B.J., Washbourne, P., and Westerfield, M. (2011) Harmonin (Ush1c) is required in zebrafish Muller glial cells for photoreceptor synaptic development and function. Disease models & mechanisms. 4(6):786-800
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