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    ush1ga Usher syndrome 1Ga (autosomal recessive) [ Danio rerio (zebrafish) ]

    Gene ID: 100330314, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ush1gaprovided by ZNC
    Official Full Name
    Usher syndrome 1Ga (autosomal recessive)provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-131120-173
    See related
    Ensembl:ENSDARG00000004322 AllianceGenome:ZFIN:ZDB-GENE-131120-173
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    ush1g; si:ch1073-349g5.1
    Summary
    Acts upstream of or within auditory receptor cell morphogenesis. Is expressed in hair cell anterior macula. Human ortholog(s) of this gene implicated in Usher syndrome type 1G. Orthologous to human USH1G (USH1 protein network component sans). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See ush1ga in Genome Data Viewer
    Location:
    chromosome: 3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 3 NC_007114.7 (56885922..56896790, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 3 NC_007114.6 (56818408..56831350, complement)

    Chromosome 3 - NC_007114.7Genomic Context describing neighboring genes Neighboring gene otopetrin 2 Neighboring gene zgc:112148 Neighboring gene amnion associated transmembrane protein Neighboring gene HID1 domain containing a Neighboring gene protein FAM104A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. Blanco-Sánchez B, et al. Cell Rep, 2018 Oct 30. PMID 30380418, Free PMC Article
    2. Dual-Specificity Phosphatase 14 Regulates Zebrafish Hair Cell Formation Through Activation of p38 Signaling Pathway. Wei G, et al. Front Cell Neurosci, 2022. PMID 35401113, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    acts_upstream_of_or_within auditory receptor cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within equilibrioception IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sensory perception of light stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pre-mRNA splicing regulator USH1G
    Names
    Usher syndrome 1G (autosomal recessive)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007114.7 Reference GRCz11 Primary Assembly

      Range
      56885922..56896790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_002661269.5 → XP_002661315.1  pre-mRNA splicing regulator USH1G

      UniProtKB/TrEMBL
      A0A8M1RQW2
      Related
      ENSDARP00000007488.8, ENSDART00000023265.9
      Conserved Domains (5) summary
      cd09586
      Location:398 → 463
      SAM_USH1G; SAM domain of USH1G
      smart00454
      Location:405 → 459
      SAM; Sterile alpha motif
      cd00204
      Location:6 → 117
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:6 → 91
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:31 → 62
      ANK; ANK repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version

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