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    Crbn cereblon [ Mus musculus (house mouse) ]

    Gene ID: 58799, updated on 2-Nov-2024

    Summary

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    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
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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. Functional effects of a pathogenic mutation in Cereblon (CRBN) on the regulation of protein synthesis via the AMPK-mTOR cascade. Lee KM, et al. J Biol Chem, 2014 Aug 22. PMID 24993823, Free PMC Article
    2. Cereblon (CRBN) deletion reverses streptozotocin induced diabetic osteoporosis in mice. Yao C, et al. Biochem Biophys Res Commun, 2018 Feb 12. PMID 29353038
    3. Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway. Bavley CC, et al. J Neurosci, 2018 Mar 14. PMID 29459374, Free PMC Article
    4. Cereblon deficiency confers resistance against polymicrobial sepsis by the activation of AMP activated protein kinase and heme-oxygenase-1. Gil M, et al. Biochem Biophys Res Commun, 2018 Jan 1. PMID 29170136
    5. Humanized cereblon mice revealed two distinct therapeutic pathways of immunomodulatory drugs. Gemechu Y, et al. Proc Natl Acad Sci U S A, 2018 Nov 13. PMID 30373817, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The CB1 receptor interacts with cereblon and drives cereblon deficiency-associated memory shortfalls.
      Title: The CB(1) receptor interacts with cereblon and drives cereblon deficiency-associated memory shortfalls.
    2. Cereblon contributes to the development of pulmonary fibrosis via inactivation of adenosine monophosphate-activated protein kinase alpha1.
      Title: Cereblon contributes to the development of pulmonary fibrosis via inactivation of adenosine monophosphate-activated protein kinase α1.
    3. Cereblon Regulates the Proteotoxicity of Tau by Tuning the Chaperone Activity of DNAJA1.
      Title: Cereblon Regulates the Proteotoxicity of Tau by Tuning the Chaperone Activity of DNAJA1.
    4. Gluconeogenic signals regulate hepcidin gene expression via a CRBN-KLF15 axis.
      Title: Gluconeogenic signals regulate hepcidin gene expression via a CRBN-KLF15 axis.
    5. Susceptibility of pentylenetetrazole-induced seizures in mice with Cereblon gene knockout.
      Title: Susceptibility of pentylenetetrazole-induced seizures in mice with Cereblon gene knockout.
    6. Cereblon harnesses Myc-dependent bioenergetics and activity of CD8+ T lymphocytes.
      Title: Cereblon harnesses Myc-dependent bioenergetics and activity of CD8+ T lymphocytes.
    7. CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy.
      Title: CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy.
    8. Crbn modulates calcium influx by regulating Orai1 during efferocytosis.
      Title: Crbn modulates calcium influx by regulating Orai1 during efferocytosis.
    9. Ubiquitin-dependent proteasomal degradation of AMPK gamma subunit by Cereblon inhibits AMPK activity.
      Title: Ubiquitin-dependent proteasomal degradation of AMPK gamma subunit by Cereblon inhibits AMPK activity.
    10. CRBN knockdown mitigates lipopolysaccharide-induced acute lung injury by suppression of oxidative stress and endoplasmic reticulum (ER) stress associated NF-kappaB signaling.
      Title: CRBN knockdown mitigates lipopolysaccharide-induced acute lung injury by suppression of oxidative stress and endoplasmic reticulum (ER) stress associated NF-κB signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    Preferred Names
    protein cereblon
    Names
    novel lethal
    protein PiL

    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_021449.3 → NP_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:83 → 188
      LON; Found in ATP-dependent protease La (LON)
      cd15777
      Location:323 → 424
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:82 → 319
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

    2. NM_175357.3 → NP_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:84 → 189
      LON; Found in ATP-dependent protease La (LON)
      cd15777
      Location:324 → 425
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:83 → 320
      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

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C7D2.1 GenPept UniProtKB/Swiss-Prot:Q8C7D2

    Gene LinkOut

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

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