ZFIN ID: ZDB-GENE-060312-41
Gene Name: Usher syndrome 1C
Gene Symbol: ush1c    Nomenclature History

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Previous Names: harmonin, zgc:136806

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 25 Mapping Details/Browsers
Description: Predicted to have actin filament binding activity. Involved in neuron development; startle response; and synapse organization. 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: Alliance (1),  Gene:564412 (1),  Ensembl(GRCz11):ENSDARG00000051876 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
fh293 Point Mutation Exon 5 Premature Stop ENU
sa9749 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24680 Point Mutation Unknown Missense, Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39483 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-ush1c
    1
    CRISPR2-ush1c
    2
    CRISPR3-ush1c
    3
    CRISPR4-ush1c
    1
    CRISPR5-ush1c
    1
    MO1-ush1c N/A 1
    MO2-ush1c N/A 1
    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
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process auditory receptor cell morphogenesis (more)
    Cellular Component COLOCALIZES_WITH   photoreceptor connecting cilium (more)
    Molecular Function actin filament binding (more)
    GO Terms (all 16)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ush1c-201 (1)    Ensembl 1915
    ush1c-202 (1)    Ensembl 975
    ush1c-203 (1)    Ensembl 977
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-ush1c polyclonal Rabbit IHC 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ush1c No data available
    MARKER RELATIONSHIPS
    ush1c Contained in: [BAC] DKEY-4M3 (1) (order this)
    ush1c Encodes: [cDNA] MGC:136806 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001039929 (1) 1944 nt
    Genomic GenBank:CR855275 (1) 159960 nt
    Select Tool
    Polypeptide UniProtKB:A0A2R8QJ43 (1) 551 aa
    Sequence Information (all 22)
    ORTHOLOGY for ush1c ( Chr: 25 )
    CITATIONS (24)