InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRBN

Summary

InnateDB Protein

IDBP-360761.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRBN

Protein Name

cereblon

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000412499

InnateDB Gene

IDBG-13894 (CRBN)

Protein Structure

UniProt Annotation

Function

Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins and is required for limb outgrowth and expression of the fibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. {ECO:0000269PubMed:18414909, ECO:0000269PubMed:20223979}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:20223979}. Nucleus {ECO:0000269PubMed:20223979}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.

Disease Associations

Mental retardation, autosomal recessive 2A (MRT2A) [MIM:607417]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features. {ECO:0000269PubMed:15557513}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highly expressed in brain. {ECO:0000269PubMed:15557513, ECO:0000269PubMed:17380424}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	23 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004176	ATP-dependent peptidase activity
GO:0005515	protein binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006508	proteolysis
GO:0016567	protein ubiquitination
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process