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    Crbn cereblon [ Mus musculus (house mouse) ]

    Gene ID: 58799, updated on 9-Dec-2024

    Summary

    Official Symbol
    Crbnprovided by MGI
    Official Full Name
    cereblonprovided by MGI
    Primary source
    MGI:MGI:1913277
    See related
    Ensembl:ENSMUSG00000005362 AllianceGenome:MGI:1913277
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    piL; 2610203G15Rik; 2900045O07Rik
    Summary
    This gene encodes a protein with a Lon protease domain, a "regulators of G protein-signaling" (RGS)-like domain and a leucine zipper. It has been proposed to regulate the assembly and surface expression of large-conductance calcium-activated potassium channels in brain and to bind thalidomide. In humans mutation in this gene causes autosomal recessive nonsyndromic cognitive disability. In mouse deficiency of this gene serves as a model to study the molecular mechanisms governing learning and memory as they relate to intellectual disability. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 14.7), CNS E18 (RPKM 11.3) and 26 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Crbn in Genome Data Viewer
    Location:
    6 E1; 6 49.24 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (106755205..106777060, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (106778244..106800099, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene 15631 Neighboring gene contactin 4 Neighboring gene STARR-seq mESC enhancer starr_16931 Neighboring gene STARR-seq mESC enhancer starr_16932 Neighboring gene STARR-seq mESC enhancer starr_16934 Neighboring gene STARR-seq mESC enhancer starr_16935 Neighboring gene STARR-seq mESC enhancer starr_16936 Neighboring gene STARR-positive B cell enhancer ABC_E6462 Neighboring gene STARR-positive B cell enhancer ABC_E4850 Neighboring gene STARR-positive B cell enhancer ABC_E9278 Neighboring gene STARR-seq mESC enhancer starr_16937 Neighboring gene STARR-positive B cell enhancer ABC_E3665 Neighboring gene interleukin 5 receptor, alpha Neighboring gene tRNA nucleotidyl transferase, CCA-adding, 1 Neighboring gene predicted gene, 34873 Neighboring gene predicted gene, 22418

    Genomic regions, transcripts, and products

    Expression

    • 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

    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 transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in locomotory exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of large conductance calcium-activated potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of monoatomic ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    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 ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of Cul4A-RING E3 ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Cul4A-RING E3 ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of Cul4A-RING E3 ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    protein cereblon
    Names
    novel lethal
    protein PiL

    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.

    mRNA and Protein(s)

    1. NM_021449.3NP_067424.2  protein cereblon isoform 1

      See identical proteins and their annotated locations for NP_067424.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AK160219, BC046967, CJ073661
      Consensus CDS
      CCDS39584.1
      UniProtKB/Swiss-Prot
      Q8C7D2
      Related
      ENSMUSP00000013882.8, ENSMUST00000013882.10
      Conserved Domains (3) summary
      cl19481
      Location:83188
      LON; Found in ATP-dependent protease La (LON)
      cd15777
      Location:323424
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:82319
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
    2. NM_175357.3NP_780566.1  protein cereblon isoform 2

      See identical proteins and their annotated locations for NP_780566.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the coding region compared to variant 1. It encodes isoform 2 which is longer than isoform 1.
      Source sequence(s)
      BC046967, BQ749260, CJ073661
      Consensus CDS
      CCDS39583.1
      UniProtKB/Swiss-Prot
      Q3TVC2, Q5RJV6, Q6IS49, Q80XJ1, Q8BP45, Q8C6B7, Q8C7D2, Q9JKR4
      Related
      ENSMUSP00000108865.4, ENSMUST00000113239.10
      Conserved Domains (3) summary
      cl19481
      Location:84189
      LON; Found in ATP-dependent protease La (LON)
      cd15777
      Location:324425
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:83320
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding 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_000072.7 Reference GRCm39 C57BL/6J

      Range
      106755205..106777060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001785159.1 RNA Sequence