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Crbn cereblon [ Mus musculus (house mouse) ]

Gene ID: 58799, updated on 13-Aug-2019

Summary

Official Symbol
Crbnprovided by MGI
Official Full Name
cereblonprovided by MGI
Primary source
MGI:MGI:1913277
See related
Ensembl:ENSMUSG00000005362
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; AF229032; AW108261; 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

Genomic context

See Crbn in Genome Data Viewer
Location:
6; 6 E1
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (106778244..106800099, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (106728238..106750068, complement)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene contactin 4 Neighboring gene interleukin 5 receptor, alpha Neighboring gene tRNA nucleotidyl transferase, CCA-adding, 1 Neighboring gene U6 spliceosomal RNA Neighboring gene predicted gene, 34873

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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
negative regulation of protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
positive regulation of protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
Cul4A-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleolus ISO
Inferred from Sequence Orthology
more info
 
nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein cereblon
Names
novel lethal
protein PiL

NCBI Reference Sequences (RefSeq)

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
    ENSMUSP00000013882.7, ENSMUST00000013882.9
    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
    Q8C7D2
    Related
    ENSMUSP00000108865.3, ENSMUST00000113239.9
    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: Mus musculus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p6 C57BL/6J

    Range
    106778244..106800099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001785159.1 RNA Sequence

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