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FLASH GENE

Symbol

CRBN

contributors: mct/npt - updated : 24-06-2015

HGNC name	cereblon
HGNC id	30185

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016302 11 - 2596 NP_057386 50.4 442 - 2006 1703631 NM_001173482 11 - 2593 NP_001166953 - 441 - 2006 1703631

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus   highly Mus musculus   brain forebrain cerebral cortex   highly Mus musculus Reproductive male system testis     highly Homo sapiens Visual eye retina

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-myristoylation site
	a Lon domain
	a DDB1 binding domain similar to those in DDB2
	a casein kinase II phosphorylation site at the C terminus

HOMOLOGY

interspecies	ortholog to murine Crbn
	ortholog to rattus crbn

Homologene

FAMILY

adenosine triphosphate (ATP)-dependent Lon protease family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	cytosolic protein and also localize at the plasma membrane of rod bipolar cells

basic FUNCTION	may be involved in memory and learning
	playing a role in the ATP-dependent degradation of proteins
	having functions in cell nucleolus besides its mitochondria protease activity in cytoplasm
	might be associated with voltage-gated chloride channels in the central nervous system
	may act as a negative modulator of the AMPK signaling pathway
	plays a role in regulating the ubiquitin-proteasome system (UPS)
	substrate receptor for the Cullin-RING E3 ligase complex and couples the ubiquitin ligase to specific ubiquitination targets
	CRBN binds to IKZF1 via its N-terminal region and regulates transcriptional activities of IKZF1 and its downstream target, enkephalin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interactor of the voltage-gated chloride channel CLCN2 (a distal region of the CLCN2 C-terminus interacts with the Lon domain)
	directly interacts with the alpha1 subunit of AMP-activated protein kinase (PRKAA1) and inhibits the activation of AMPK activation
	PSMB4, the beta7 subunit of the 20S core complex, was identified as a direct binding partner of CRBN
	thought to function as a substrate receptor for the Cullin 4-RING ubiquitin ligase (CRL4) complex
	its inactivation releases deubiquitinated KCNMA1 channels from the ER to the plasma membrane, leading to markedly enhanced channel activity
	AGO2 is a CRBN binding partner and the steady-state levels of AGO2 were regulated by CRBN
	CRBN was associated with IKZF1 protein, and the N-terminal region of CRBN was required for IKZF1 binding

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRT2A

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	CamKII(cre/+), crbn(-/-) mice exhibit selective hipoccapus-dependent deficits in associative learning and supports the use of these mice to study the functional consequences of CRBN aberrations on memory and learning in humans
	mice with CRL4A(CRBN) mutation in the brain or treated with
	a CRBN inhibitor are very sensitive to seizure induction, which can be attenuated by blocking KCNMA1 channels