ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in neuron development and sensory perception of sound. 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 |
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 | ||||
| UniProtKB:A0AC58IVI4 | InterPro | 983 | ||||
| UniProtKB:A0AC58IVI5 | InterPro | 983 | ||||
| UniProtKB:A0AC58IVI7 | InterPro | 977 | ||||
| UniProtKB:A0AC58IVI9 | InterPro | 945 | ||||
| UniProtKB:A0AC58IVJ0 | InterPro | 977 | ||||
| UniProtKB:A0AC58IVJ1 | InterPro | 967 | ||||
| UniProtKB:A0AC58IVJ2 | InterPro | 558 | ||||
| UniProtKB:A0AC58IVJ3 | InterPro | 967 | ||||
| UniProtKB:A0AC58IVJ4 | InterPro | 939 | ||||
| UniProtKB:A0AC58IVJ6 | InterPro | 973 | ||||
| UniProtKB:A0AC58IVJ8 | InterPro | 586 | ||||
| UniProtKB:A0AC58IVJ9 | InterPro | 929 | ||||
| UniProtKB:A0AC58IVK2 | InterPro | 935 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers