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    Nhlrc1 NHL repeat containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 105193, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nhlrc1provided by MGI
    Official Full Name
    NHL repeat containing 1provided by MGI
    Primary source
    MGI:MGI:2145264
    See related
    Ensembl:ENSMUSG00000044231 AllianceGenome:MGI:2145264
    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
    EPM2B; B230309E09Rik
    Summary
    Enables ubiquitin protein ligase activity. Involved in glycogen biosynthetic process. Acts upstream of or within several processes, including glycogen metabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and regulation of protein modification process. Located in nucleus and perinuclear region of cytoplasm. Used to study Lafora disease. Orthologous to human NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    NEW
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    Genomic context

    See Nhlrc1 in Genome Data Viewer
    Location:
    13 A5; 13 24.5 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (47166033..47168326, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (47012557..47014850, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA E030046B03 gene Neighboring gene predicted gene, 52038 Neighboring gene coronin, actin binding protein 1C pseudogene Neighboring gene NLR family, pyrin domain containing 4B pseudogene Neighboring gene thiopurine methyltransferase Neighboring gene STARR-positive B cell enhancer ABC_E1875 Neighboring gene lysine (K)-specific demethylase 1B

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glycogen biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in glycogen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glycogen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within macromolecule metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein polyubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein ubiquitination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase NHLRC1
    Names
    NHL repeat-containing protein 1
    RING-type E3 ubiquitin transferase NHLRC1
    malin
    NP_780549.1

    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_175340.4NP_780549.1  E3 ubiquitin-protein ligase NHLRC1

      See identical proteins and their annotated locations for NP_780549.1

      Status: VALIDATED

      Source sequence(s)
      AK045746, BC118952, BX514773, BY340986
      Consensus CDS
      CCDS26487.1
      UniProtKB/Swiss-Prot
      Q8BR37
      UniProtKB/TrEMBL
      Q0VF71
      Related
      ENSMUSP00000054990.3, ENSMUST00000052747.4
      Conserved Domains (2) summary
      cd14961
      Location:120394
      NHL_TRIM32_like; NHL repeat domain of the tripartite motif-containing protein 32 (TRIM32) and related proteins
      pfam14634
      Location:2775
      zf-RING_5; zinc-RING finger domain

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      47166033..47168326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)