Crbn cereblon [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Gluconeogenic signals regulate hepcidin gene expression via a CRBN-KLF15 axis.
Title: Gluconeogenic signals regulate hepcidin gene expression via a CRBN-KLF15 axis.
Susceptibility of pentylenetetrazole-induced seizures in mice with Cereblon gene knockout.
Title: Susceptibility of pentylenetetrazole-induced seizures in mice with Cereblon gene knockout.
Cereblon harnesses Myc-dependent bioenergetics and activity of CD8+ T lymphocytes.
Title: Cereblon harnesses Myc-dependent bioenergetics and activity of CD8+ T lymphocytes.
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.
Crbn modulates calcium influx by regulating Orai1 during efferocytosis.
Title: Crbn modulates calcium influx by regulating Orai1 during efferocytosis.
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.
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)

Endonuclease-mediated (5) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI987788 (e-PCR)
- UniSTS:178496

RH125992 (e-PCR)
- UniSTS:162704

RH127525 (e-PCR)
- UniSTS:210835

Crbn (e-PCR), detects polymorphism
- UniSTS:531097

AW108261 (e-PCR)
- UniSTS:179427

RH124706 (e-PCR)
- UniSTS:161528

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)

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
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