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
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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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available