CRBN
entrez
51185
canonical
uniprot
Q96SW2
canonical
ensembl
ENSG00000113851
resolver
ensp
ENSP00000231948
resolver
ensp
ENSP00000411047
resolver
ensp
ENSP00000412499
resolver
ensp
ENSP00000730286
resolver
genesymbol
CRBN
resolver
hgnc
HGNC:30185
resolver
uniprot
B2R6H4
resolver
uniprot
C9IZA9
resolver
uniprot
C9JAH6
resolver
uniprot
Q6AI62
resolver
uniprot
Q6NVZ0
resolver
uniprot
Q9UHW4
resolver
uniprot_entry
CRBN_HUMAN
resolver
uniprot_sec
B2R6H4
resolver
uniprot_sec
C9IZA9
resolver
uniprot_sec
C9JAH6
resolver
uniprot_sec
Q6AI62
resolver
uniprot_sec
Q6NVZ0
resolver
uniprot_sec
Q9UHW4
resolver
amino_acid_sequence
MAGEGDQQDAAHNMGNHLPLLPAESEEEDEMEVEDQDSKEAKKPNIINFDTSLPTSHTYLGADMEEFHGRTLHDDDSCQVIPVLPQVMMILIPGQTLPLQLFHPQEVSMVRNLIQKDRTFAVLAYSNVQEREAQFGTTAEIYAYREEQDFGIEIVKVKAIGRQRFKVLELRTQSDGIQQAKVQILPECVLPSTMSAVQLESLNKCQIFPSKPVSREDQCSYKWWQKYQKRKFHCANLTSWPRWLYSLYDAETLMDRIKKQLREWDENLKDDSLPSNPIDFSYRVAACLPIDDVLRIQLLKIGSAIQRLRCELDIMNKCTSLCCKQCQETEITTKNEIFSLSLCGPMAAYVNPHGYVHETLTVYKACNLNLIGRPSTEHSWFPGYAWTVAQCKICASHIGWKFTATKKDMSPQKFWGLTRSALLPTIPDTEDEISPDKVILCL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 2 (MRT2) [MIM:607417]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT2 patients display mild intellectual disability 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:0000269|PubMed:15557513, ECO:0000269|PubMed:28143899}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2, ILF2, GLUL, IKZF1 and CSNK1A1 (PubMed:26990986, PubMed:33009960, PubMed:41565821). Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8 (PubMed:20223979, PubMed:24328678, PubMed:25043012, PubMed:25108355). Maintains presynaptic glutamate release and consequently cognitive functions, such as memory and learning, by negatively regulating large-conductance calcium-activated potassium (BK) channels in excitatory neurons (PubMed:18414909, PubMed:29530986). Likely to function by regulating the assembly and neuronal surface expression of BK channels via its interaction with KCNT1 (PubMed:18414909). May also be involved in regulating anxiety-like behaviors via a BK channel-independent mechanism (By similarity). Plays a negative role in TLR4 signaling by interacting with TRAF6 and ECSIT, leading to inhibition of ECSIT ubiquitination, an important step of the signaling (PubMed:31620128). {ECO:0000250|UniProtKB:Q8C7D2, ECO:0000269|PubMed:18414909, ECO:0000269|PubMed:20223979, ECO:0000269|PubMed:24328678, ECO:0000269|PubMed:25043012, ECO:0000269|PubMed:25108355, ECO:0000269|PubMed:29530986, ECO:0000269|PubMed:31620128, ECO:0000269|PubMed:41565821}.
uniprot
proteins
mass_dalton
50546
uniprot
proteins
mutagenesis
MUTAGEN 384; /note="Y->A: Abolishes thalidomide-binding without affecting DCX protein ligase complex activity; when associated with A-386."; /evidence="ECO:0000269|PubMed:20223979"; MUTAGEN 386; /note="W->A: Abolishes thalidomide-binding without affecting DCX protein ligase complex activity; when associated with A-384. Abolishes pomalidomide-induced change in substrate specificity and abolishes pomalidomide-induced decrease in cell viability that is brought about by increased degradation of MYC, IRF4 and IKZF3."; /evidence="ECO:0000269|PubMed:20223979, ECO:0000269|PubMed:25108355"; MUTAGEN 419..442; /note="Missing: Fails to rescue increased BK channel activity and decreased probability of neurotransmission in a mouse hippocampal neuron model."; /evidence="ECO:0000269|PubMed:29530986
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:20223979, ECO:0000269|PubMed:41565821, ECO:0000305|PubMed:25108355}.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex. {ECO:0000269|PubMed:20223979, ECO:0000269|PubMed:25043012}.
uniprot
proteins
protein_family
CRBN family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15557513
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17380424
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18414909
uniprot
proteins
pubmed
20223979
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24328678
uniprot
proteins
pubmed
25043012
uniprot
proteins
pubmed
25108355
uniprot
proteins
pubmed
26990986
uniprot
proteins
pubmed
28143899
uniprot
proteins
pubmed
29530986
uniprot
proteins
pubmed
31620128
uniprot
proteins
pubmed
33009960
uniprot
proteins
pubmed
41565821
uniprot
proteins
sequence_length
442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20223979}. Nucleus {ECO:0000269|PubMed:20223979}. Membrane {ECO:0000250|UniProtKB:Q56AP7}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q56AP7}.
uniprot
proteins