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    USH1G USH1 protein network component sans [ Homo sapiens (human) ]

    Gene ID: 124590, updated on 6-Sep-2017
    Official Symbol
    USH1Gprovided by HGNC
    Official Full Name
    USH1 protein network component sansprovided by HGNC
    Primary source
    HGNC:HGNC:16356
    See related
    Ensembl:ENSG00000182040 MIM:607696; Vega:OTTHUMG00000178864
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SANS; ANKS4A
    Summary
    This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Orthologs
    Location:
    17q25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (74916083..74923263, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72912176..72919351, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ferredoxin reductase Neighboring gene fatty acid desaturase 6 Neighboring gene otopetrin 2 Neighboring gene otopetrin 3 Neighboring gene HID1 domain containing Neighboring gene HID1 antisense RNA 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ33924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    spectrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    equilibrioception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear receptor stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    Usher syndrome type-1G protein
    Names
    Usher syndrome 1G (autosomal recessive)
    scaffold protein containing ankyrin repeats and SAM domain

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007882.2 RefSeqGene

      Range
      5001..12180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282489.2NP_001269418.1  Usher syndrome type-1G protein isoform 2

      See identical proteins and their annotated locations for NP_001269418.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087651, AK296899, BC101096, DC403891
      UniProtKB/Swiss-Prot
      Q495M9
      UniProtKB/TrEMBL
      B4DL95
      Conserved Domains (2) summary
      cd09586
      Location:285350
      SAM_USH1G; SAM domain of USH1G
      smart00454
      Location:292345
      SAM; Sterile alpha motif
    2. NM_173477.4NP_775748.2  Usher syndrome type-1G protein isoform 1

      See identical proteins and their annotated locations for NP_775748.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC087651, BC101096, DC403891
      Consensus CDS
      CCDS32725.1
      UniProtKB/Swiss-Prot
      Q495M9
      Related
      ENSP00000480279.1, OTTHUMP00000276762, ENST00000614341.4, OTTHUMT00000443676
      Conserved Domains (3) summary
      cd09586
      Location:388453
      SAM_USH1G; SAM domain of USH1G
      cd00204
      Location:6117
      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 ...
      sd00045
      Location:3162
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      74916083..74923263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524296.2XP_011522598.1  Usher syndrome type-1G protein isoform X1

      See identical proteins and their annotated locations for XP_011522598.1

      Conserved Domains (2) summary
      cd09586
      Location:285350
      SAM_USH1G; SAM domain of USH1G
      smart00454
      Location:292345
      SAM; Sterile alpha motif

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      72976994..72984175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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