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

    Gene ID: 124590, updated on 28-Oct-2024

    Summary

    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; AllianceGenome:HGNC:16356
    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]
    Expression
    Biased expression in esophagus (RPKM 1.1), skin (RPKM 0.6) and 6 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See USH1G in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74916083..74923255, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75807868..75815042, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72912175..72919350, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ferredoxin reductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72870273-72871173 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4853 Neighboring gene Sharpr-MPRA regulatory region 12632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875167-72875668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875669-72876168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72878575-72879105 Neighboring gene fatty acid desaturase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72920304-72920487 Neighboring gene Sharpr-MPRA regulatory region 12431 Neighboring gene otopetrin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:72939523-72940722 Neighboring gene otopetrin 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables spectrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in equilibrioception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pre-mRNA splicing regulator USH1G
    Names
    Usher syndrome 1G (autosomal recessive)
    scaffold protein containing ankyrin repeats and SAM domain
    usher syndrome type-1G protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5009..12181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1416

    mRNA and Protein(s)

    1. NM_001282489.3NP_001269418.1  pre-mRNA splicing regulator USH1G 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
      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_173477.5NP_775748.2  pre-mRNA splicing regulator USH1G 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, Q8N251
      UniProtKB/TrEMBL
      A8K189
      Related
      ENSP00000480279.1, ENST00000614341.5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74916083..74923255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524296.2XP_011522598.1  pre-mRNA splicing regulator USH1G isoform X1

      See identical proteins and their annotated locations for XP_011522598.1

      UniProtKB/TrEMBL
      B4DL95
      Conserved Domains (2) summary
      cd09586
      Location:285350
      SAM_USH1G; SAM domain of USH1G
      smart00454
      Location:292345
      SAM; Sterile alpha motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75807868..75815042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314993.1XP_054170968.1  pre-mRNA splicing regulator USH1G isoform X1