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
Predicted to enable actin filament binding activity. Acts upstream of or within neuron development; startle response; and synapse organization. Predicted to be part of stereocilia ankle link complex. Predicted to be active in plasma membrane and stereocilium tip. Predicted to colocalize with photoreceptor connecting cilium and photoreceptor inner segment. 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
Expression
All Expression Data
8 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
7 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ush1c Human Ortholog
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
Associated With ush1c Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Family IPR030237 Harmonin
Homologous_superfamily IPR036034 PDZ superfamily
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-ush1c polyclonal Rabbit
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations