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    Ushbp1 USH1 protein network component harmonin binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 234395, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ushbp1provided by MGI
    Official Full Name
    USH1 protein network component harmonin binding protein 1provided by MGI
    Primary source
    MGI:MGI:1922920
    See related
    Ensembl:ENSMUSG00000034911 AllianceGenome:MGI:1922920
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MCC2; AIEBP; 9430064H24; 2210404N08Rik
    Summary
    Predicted to enable PDZ domain binding activity. Is expressed in embryo; heart; liver; and lung. Orthologous to human USHBP1 (USH1 protein network component harmonin binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lung adult (RPKM 41.0), subcutaneous fat pad adult (RPKM 26.3) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 B3.3; 8 34.43 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (71836918..71848480, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (71384274..71395834, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6650 Neighboring gene occludin/ELL domain containing 1 Neighboring gene nuclear receptor subfamily 2, group F, member 6 Neighboring gene STARR-seq mESC enhancer starr_21812 Neighboring gene STARR-positive B cell enhancer ABC_E881 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene STARR-positive B cell enhancer ABC_E1758 Neighboring gene predicted gene, 39193

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mutated in colorectal cancer (Mcc), a candidate tumor suppressor, is dynamically expressed during mouse embryogenesis. Young T, et al. Dev Dyn, 2011 Sep. PMID 22016184
    2. Single-cell transcriptomic analysis of mouse neocortical development. Loo L, et al. Nat Commun, 2019 Jan 11. PMID 30635555, Free PMC Article
    3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    harmonin-binding protein USHBP1
    Names
    AIE-75 binding protein
    USH1C-binding protein 1
    Usher syndrome 1C binding protein 1
    usher syndrome type-1C protein-binding protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_181418.3 → NP_852083.2  harmonin-binding protein USHBP1

      See identical proteins and their annotated locations for NP_852083.2

      Status: VALIDATED

      Source sequence(s)
      AK043798, AK084049, BY241807
      Consensus CDS
      CCDS22393.1
      UniProtKB/Swiss-Prot
      E9QKT2, Q8R370
      Related
      ENSMUSP00000045668.8, ENSMUST00000049184.9
      Conserved Domains (2) summary
      pfam10506
      Location:288 → 352
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      cl12013
      Location:585 → 655
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      71836918..71848480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509657.5 → XP_006509720.1  harmonin-binding protein USHBP1 isoform X2

      Conserved Domains (3) summary
      TIGR01843
      Location:383 → 602
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
      TIGR04211
      Location:514 → 600
      SH3_and_anchor; SH3 domain protein
      pfam10506
      Location:288 → 340
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome

    2. XM_006509656.5 → XP_006509719.1  harmonin-binding protein USHBP1 isoform X1

      Conserved Domains (4) summary
      TIGR01843
      Location:436 → 655
      type_I_hlyD; type I secretion membrane fusion protein, HlyD family
      TIGR04211
      Location:567 → 653
      SH3_and_anchor; SH3 domain protein
      pfam10506
      Location:286 → 350
      MCC-bdg_PDZ; PDZ domain of MCC-2 bdg protein for Usher syndrome
      cl26936
      Location:370 → 493
      Extensin-like_C; Extensin-like protein C-terminus

    RNA

    1. XR_003947258.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R370.2 GenPept UniProtKB/Swiss-Prot:Q8R370

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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