InnateDB Protein
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IDBP-13898.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CRBN
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Protein Name
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cereblon
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000231948
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InnateDB Gene
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IDBG-13894 (CRBN)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:20223979}. Nucleus {ECO:0000269PubMed:20223979}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
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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.
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Tissue Specificity |
Widely expressed. Highly expressed in brain. {ECO:0000269PubMed:15557513, ECO:0000269PubMed:17380424}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
23
[view]
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Protein-Protein |
23
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0006200
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ATP catabolic process
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GO:0006508
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proteolysis
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GO:0016567
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protein ubiquitination
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GO:0032463
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negative regulation of protein homooligomerization
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GO:0034766
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negative regulation of ion transmembrane transport
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GO:0043161
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proteasome-mediated ubiquitin-dependent protein catabolic process
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GO:0090073
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positive regulation of protein homodimerization activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR003111
Peptidase S16, lon N-terminal
IPR015947
PUA-like domain
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PFAM |
PF02190
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PRINTS |
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PIRSF |
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SMART |
SM00464
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TIGRFAMs |
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Modification |
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SwissProt |
Q96SW2
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PhosphoSite |
PhosphoSite-Q96SW2
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TrEMBL |
A0A024R2H8
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UniProt Splice Variant |
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Entrez Gene |
51185
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UniGene |
Hs.693173
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RefSeq |
NP_057386
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HUGO |
HGNC:30185
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OMIM |
609262
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CCDS |
CCDS2562
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HPRD |
16750
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IMGT |
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EMBL |
AC024060
AF117230
AK027507
AK312577
BC017419
BC067811
CH471055
CR627060
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GenPept |
AAF17211
AAH17419
AAH67811
BAB55162
BAG35471
CAH10361
EAW63892
EAW63894
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