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    Sans Scaffold protein containing ankyrin repeats and SAM domain [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36427, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sansprovided by FlyBase
    Official Full Name
    Scaffold protein containing ankyrin repeats and SAM domainprovided by FlyBase
    Primary source
    FLYBASE:FBgn0033785
    Locus tag
    Dmel_CG13320
    See related
    AllianceGenome:FB:FBgn0033785
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG13320; Dmel\CG13320; DSANS; sans
    Summary
    Enables myosin binding activity. Involved in sensory perception of sound. Located in early endosome. Is expressed in several structures, including embryonic epipharynx; embryonic head epidermis; embryonic hypopharynx; gut section; and imaginal disc. Human ortholog(s) of this gene implicated in Usher syndrome type 1G. Orthologous to human USH1G (USH1 protein network component sans) and ANKS4B (ankyrin repeat and sterile alpha motif domain containing 4B). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Sans in Genome Data Viewer
    Location:
    49E1-49E1; 2-67 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (12936891..12940412)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (8824396..8827917)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene Squamous cell carcinoma-related oncogene 3 Neighboring gene uncharacterized protein Neighboring gene Multi drug resistance 49 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutations in Drosophila crinkled/Myosin VIIA disrupt denticle morphogenesis. Sallee JL, et al. Dev Biol, 2021 Feb. PMID 33248112, Free PMC Article
    2. Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. Demontis F, et al. PLoS One, 2009. PMID 19270738, Free PMC Article
    3. The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals. Li T, et al. Elife, 2016 Jun 22. PMID 27331610, Free PMC Article
    4. Using Drosophila to study mechanisms of hereditary hearing loss. Li T, et al. Dis Model Mech, 2018 May 31. PMID 29853544, Free PMC Article
    5. Fruit flies in biomedical research. Wangler MF, et al. Genetics, 2015 Mar. PMID 25624315, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables myosin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    scaffold protein containing ankyrin repeats and SAM domain
    Names
    CG13320-PA
    CG13320-PB
    Sans-PA
    Sans-PB
    sans ortholog

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033778.4 Reference assembly

      Range
      12936891..12940412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_136985.3 → NP_610829.1  scaffold protein containing ankyrin repeats and SAM domain, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_610829.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JQL2
      Related
      FBpp0086903
      Conserved Domains (5) summary
      cd09517
      Location:443 → 508
      SAM_USH1G_HARP; SAM domain of USH1G_HARP family
      smart00454
      Location:447 → 503
      SAM; Sterile alpha motif
      cd00204
      Location:6 → 118
      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 → 96
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:35 → 63
      ANK; ANK repeat [structural motif]

    2. NM_176160.2 → NP_788340.1  scaffold protein containing ankyrin repeats and SAM domain, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_788340.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7JQL2
      Related
      FBpp0086904
      Conserved Domains (5) summary
      cd09517
      Location:443 → 508
      SAM_USH1G_HARP; SAM domain of USH1G_HARP family
      smart00454
      Location:447 → 503
      SAM; Sterile alpha motif
      cd00204
      Location:6 → 118
      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 → 96
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:35 → 63
      ANK; ANK repeat [structural motif]
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7JQL2 Q7JQL2

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