• Gene id: 51185

Gene Summary

• Gene Symbol: CRBN   Gene   UCSC   Ensembl
• Aliases: MRT2, MRT2A
• Gene name: cereblon
• Alternate names: protein cereblon, protein x 0001,
• Gene location: 3p26.2 (3179716: 3148489)     Exons: 12     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutatio
• OMIM: 609262

Protein Summary

• Protein general information: Q96SW2  
  • Name: Protein cereblon
  • Length: 442  
  • Mass: 50546
  • Tissue specificity: Widely expressed. Highly expressed in brain. {ECO
• Sequence:

  MAGEGDQQDAAHNMGNHLPLLPAESEEEDEMEVEDQDSKEAKKPNIINFDTSLPTSHTYLGADMEEFHGRTLHDD
  DSCQVIPVLPQVMMILIPGQTLPLQLFHPQEVSMVRNLIQKDRTFAVLAYSNVQEREAQFGTTAEIYAYREEQDF
  GIEIVKVKAIGRQRFKVLELRTQSDGIQQAKVQILPECVLPSTMSAVQLESLNKCQIFPSKPVSREDQCSYKWWQ
  KYQKRKFHCANLTSWPRWLYSLYDAETLMDRIKKQLREWDENLKDDSLPSNPIDFSYRVAACLPIDDVLRIQLLK
  IGSAIQRLRCELDIMNKCTSLCCKQCQETEITTKNEIFSLSLCGPMAAYVNPHGYVHETLTVYKACNLNLIGRPS
  TEHSWFPGYAWTVAQCKICASHIGWKFTATKKDMSPQKFWGLTRSALLPTIPDTEDEISPDKVILCL

• Structural information:
  • Protein Domains: (81..31-)
    (/note="Lon-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01123-)
    (318..42-)
    (/note="CULT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01124"-)
  • Interpro: IPR034750  IPR003111  IPR015947  IPR004910  
  • Prosite: PS51788 PS51787
  • CDD: cd15777
  • PDB: 4M91 4TZ4 5FQD 5HXB 5V3O 6BN7 6BN8 6BN9 6BNB 6BOY 6H0F 6H0G
  • PDBsum: 4M91 4TZ4 5FQD 5HXB 5V3O 6BN7 6BN8 6BN9 6BNB 6BOY 6H0F 6H0G
  • DIP: 53521
  • STRING: ENSP00000231948
• Other Databases: GeneCards:  CRBN  Malacards:  CRBN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0016567	protein ubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031333	negative regulation of protein-containing complex assembly	IEA	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0034766	negative regulation of ion transmembrane transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)