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    Nhlrc3 NHL repeat containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 212114, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Nhlrc3provided by MGI
    Official Full Name
    NHL repeat containing 3provided by MGI
    Primary source
    MGI:MGI:2444520
    See related
    Ensembl:ENSMUSG00000042997 AllianceGenome:MGI:2444520
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA4083; 4833441N19; 8030451K01Rik
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Is expressed in embryo. Orthologous to human NHLRC3 (NHL repeat containing 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 7.8), colon adult (RPKM 5.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 C; 3 25.15 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (53359417..53370679, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (53451996..53463258, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40048 Neighboring gene predicted gene 43471 Neighboring gene STARR-seq mESC enhancer starr_07655 Neighboring gene STARR-seq mESC enhancer starr_07656 Neighboring gene predicted gene 16206 Neighboring gene STARR-seq mESC enhancer starr_07657 Neighboring gene proline and serine rich 1 Neighboring gene stomatin (Epb7.2)-like 3

    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. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Kiyozumi D, et al. Proc Natl Acad Sci U S A, 2006 Aug 8. PMID 16880404, Free PMC Article
    2. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article
    3. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    4. 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
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (14) 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)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4083, MGC107225, MGC130333

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables translation repressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NHL repeat-containing protein 3

    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_172501.2 → NP_766089.1  NHL repeat-containing protein 3 precursor

      See identical proteins and their annotated locations for NP_766089.1

      Status: PROVISIONAL

      Source sequence(s)
      AK033167
      Consensus CDS
      CCDS17345.1
      UniProtKB/Swiss-Prot
      Q8CCH2, Q8CDW5
      Related
      ENSMUSP00000055295.8, ENSMUST00000056749.14
      Conserved Domains (3) summary
      COG3391
      Location:66 → 308
      YncE; DNA-binding beta-propeller fold protein YncE [General function prediction only]
      cd05819
      Location:107 → 153
      NHL; NHL repeat [structural motif]
      cl18310
      Location:66 → 336
      NHL; NHL repeat unit of beta-propeller proteins

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      53359417..53370679 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CCH2.1 GenPept UniProtKB/Swiss-Prot:Q8CCH2

    Gene LinkOut

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

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