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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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See Ushbp1 in Genome Data Viewer
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

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