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UniProtKB - Q96SW2 (CRBN_HUMAN)

Entry version 170 (25 May 2022)
Sequence version 1 (01 Dec 2001)
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Protein

Protein cereblon

Gene

CRBN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 or ILF2 (PubMed:33009960).

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).

By similarityCurated6 Publications

Miscellaneous

Thalidomide was widely prescribed to pregnant women in the late 1950s as a sedative and as treatment against morning sickness. Thalidomide was found to be teratogenic, causing multiple birth defects. Recently, thalidomide use has increased for the treatment of multiple myeloma and erythema nodosum leprosum, a painful complication of leprosy. Binding of pomalidomide and other thalidomide-related drugs leads to a change in substrate specificity of the human DCX (DDB1-CUL4-X-box) E3 protein ligase complex, and this is probably the underlying cause of the teratogenic activity of thalidomide, possibly due to abnormal regulation of the BMP and FGF8 signaling pathways (PubMed:20223979). The thalidomide-induced change in substrate specificity leads to decreased degradation of MEIS2 and other target proteins and increased degradation of MYC, IRF4, IKZF1 and IKZF3, and this is probably the reason for the anti-proliferative and immunomodulatory effects of thalidomide and related drugs (PubMed:25108355). Thalidomide is also teratogenic in chicken and zebrafish, but not in mice.2 Publications

Caution

Although it contains a Lon N-terminal domain also found in proteases of the peptidase S16 family, it does not contain the ATP-binding and catalytic domains, suggesting that it has no protease activity.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 Publication1 Publication
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi323ZincCombined sources1 Publication1
Metal bindingi326ZincCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei378ThalidomideCombined sources1 Publication1
Binding sitei380ThalidomideCombined sources1 Publication1
Binding sitei386ThalidomideCombined sources1 Publication1
Metal bindingi391ZincCombined sources1 Publication1
Metal bindingi394ZincCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96SW2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9679191, Potential therapeutics for SARS

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96SW2

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96SW2

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.162.1.1, the cereblon (crbn) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein cereblon
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CRBN
ORF Names:AD-006
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30185, CRBN

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609262, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96SW2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000113851

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal recessive 2A (MRT2A)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079409391C → R in MRT2A. 1 PublicationCorresponds to variant dbSNP:rs797045036EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi384Y → A: Abolishes thalidomide-binding without affecting DCX protein ligase complex activity; when associated with A-386. 1 Publication1
Mutagenesisi386W → 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. 2 Publications1
Mutagenesisi419 – 442Missing : Fails to rescue increased BK channel activity and decreased probability of neurotransmission in a mouse hippocampal neuron model. 1 PublicationAdd BLAST24

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		51185

MalaCards human disease database

More...MalaCardsi		CRBN
MIMi607417, phenotype

Open Targets

More...OpenTargetsi		ENSG00000113851

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		88616, Autosomal recessive non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134926851

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96SW2, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3763008

Drug and drug target database

More...DrugBanki		DB00480, Lenalidomide
DB08910, Pomalidomide
DB01041, Thalidomide

DrugCentral

More...DrugCentrali		Q96SW2

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		3086

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CRBN

Domain mapping of disease mutations (DMDM)

More...DMDMi		73918916

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000761601 – 442Protein cereblonAdd BLAST442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei25PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex.2 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96SW2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96SW2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96SW2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96SW2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96SW2

PeptideAtlas

More...PeptideAtlasi		Q96SW2

PRoteomics IDEntifications database

More...PRIDEi		Q96SW2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78157 [Q96SW2-1]
78158 [Q96SW2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96SW2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96SW2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Highly expressed in brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000113851, Expressed in corpus callosum and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96SW2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96SW2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000113851, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KCNT1 (By similarity).

Component of a DCX (DDB1-CUL4-X-box) protein ligase complex, at least composed of CRBN, CUL4A, DDB1 and RBX1.

Interacts directly with DDB1 (PubMed:25043012, PubMed:25108355).

Interacts (in pomalidomide-bound form) with IKZF1 and IKZF3 (PubMed:24328678).

Interacts with ILF2 (PubMed:33009960).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119360, 185 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96SW2

Database of interacting proteins

More...DIPi		DIP-53521N

Protein interaction database and analysis system

More...IntActi		Q96SW2, 41 interactors

Molecular INTeraction database

More...MINTi		Q96SW2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000231948

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q96SW2

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96SW2, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1442
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96SW2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96SW2

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini81 – 317Lon N-terminalPROSITE-ProRule annotationAdd BLAST237
Domaini318 – 426CULTPROSITE-ProRule annotationAdd BLAST109

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 45DisorderedSequence analysisAdd BLAST45

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The CULT domain binds thalidomide and related drugs, such as pomalidomide and lenalidomide. Drug binding leads to a change in substrate specificity of the human DCX (DDB1-CUL4-X-box) E3 protein ligase complex, while no such change is observed in rodents.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CRBN family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1400, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000016404

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_025648_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96SW2

Identification of Orthologs from Complete Genome Data

More...OMAi		AYQMYDS

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96SW2

TreeFam database of animal gene trees

More...TreeFami		TF106115

Family and domain databases

Conserved Domains Database

More...CDDi		cd15777, CRBN_C_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.130.40, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR034750, CULT
IPR003111, Lon_prtase_N
IPR046336, Lon_prtase_N_sf
IPR015947, PUA-like_sf
IPR004910, Yippee/Mis18/Cereblon

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02190, LON_substr_bdg, 1 hit
PF03226, Yippee-Mis18, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00464, LON, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF88697, SSF88697, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51788, CULT, 1 hit
PS51787, LON_N, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96SW2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGEGDQQDA AHNMGNHLPL LPAESEEEDE MEVEDQDSKE AKKPNIINFD 
        60         70         80         90        100
TSLPTSHTYL GADMEEFHGR TLHDDDSCQV IPVLPQVMMI LIPGQTLPLQ 
       110        120        130        140        150
LFHPQEVSMV RNLIQKDRTF AVLAYSNVQE REAQFGTTAE IYAYREEQDF 
       160        170        180        190        200
GIEIVKVKAI GRQRFKVLEL RTQSDGIQQA KVQILPECVL PSTMSAVQLE 
       210        220        230        240        250
SLNKCQIFPS KPVSREDQCS YKWWQKYQKR KFHCANLTSW PRWLYSLYDA 
       260        270        280        290        300
ETLMDRIKKQ LREWDENLKD DSLPSNPIDF SYRVAACLPI DDVLRIQLLK 
       310        320        330        340        350
IGSAIQRLRC ELDIMNKCTS LCCKQCQETE ITTKNEIFSL SLCGPMAAYV 
       360        370        380        390        400
NPHGYVHETL TVYKACNLNL IGRPSTEHSW FPGYAWTVAQ CKICASHIGW 
       410        420        430        440 
KFTATKKDMS PQKFWGLTRS ALLPTIPDTE DEISPDKVIL CL
Length:442
Mass (Da):50,546
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i90DF77D98A8BEAA8
GO
Isoform 2 (identifier: Q96SW2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-23: Missing.

Show »
Length:441
Mass (Da):50,475
Checksum:i28B44733BBB461C1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QT87J3QT87_HUMAN
Protein cereblon
CRBN
394Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPJ5A0A1W2PPJ5_HUMAN
Protein cereblon
CRBN
490Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QT51J3QT51_HUMAN
Protein cereblon
CRBN
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF17211 differs from that shown. Reason: Frameshift.Curated
The sequence BAG35471 differs from that shown. Reason: Frameshift.Curated
The sequence BAG35471 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti229K → R in AAH67811 (PubMed:16641997).Curated1
Sequence conflicti237L → P in BAG35471 (PubMed:14702039).Curated1
Sequence conflicti292D → G in BAG35471 (PubMed:14702039).Curated1
Sequence conflicti330E → G in BAG35471 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079409391C → R in MRT2A. 1 PublicationCorresponds to variant dbSNP:rs797045036EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01520923Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK027507 mRNA Translation: BAB55162.1
AK312577 mRNA Translation: BAG35471.1 Sequence problems.
AC024060 Genomic DNA No translation available.
BC017419 mRNA Translation: AAH17419.1
BC067811 mRNA Translation: AAH67811.1
AF117230 mRNA Translation: AAF17211.1 Frameshift.
CR627060 mRNA Translation: CAH10361.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2562.1 [Q96SW2-1]
CCDS54547.1 [Q96SW2-2]

NCBI Reference Sequences

More...RefSeqi		NP_001166953.1, NM_001173482.1 [Q96SW2-2]
NP_057386.2, NM_016302.3 [Q96SW2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000231948.9; ENSP00000231948.4; ENSG00000113851.16
ENST00000432408.6; ENSP00000412499.2; ENSG00000113851.16 [Q96SW2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51185

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51185

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000231948.9; ENSP00000231948.4; NM_016302.4; NP_057386.2

UCSC genome browser

More...UCSCi		uc003bpq.4, human [Q96SW2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

A short story - Issue 117 of May 2010

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027507 mRNA Translation: BAB55162.1
AK312577 mRNA Translation: BAG35471.1 Sequence problems.
AC024060 Genomic DNA No translation available.
BC017419 mRNA Translation: AAH17419.1
BC067811 mRNA Translation: AAH67811.1
AF117230 mRNA Translation: AAF17211.1 Frameshift.
CR627060 mRNA Translation: CAH10361.1
CCDSiCCDS2562.1 [Q96SW2-1]
CCDS54547.1 [Q96SW2-2]
RefSeqiNP_001166953.1, NM_001173482.1 [Q96SW2-2]
NP_057386.2, NM_016302.3 [Q96SW2-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4M91X-ray1.10B229-240[»]
4TZ4X-ray3.01C48-428[»]
5FQDX-ray2.45B/E41-442[»]
5HXBX-ray3.60C/Z40-442[»]
5V3OX-ray3.20C40-442[»]
6BN7X-ray3.50B1-442[»]
6BN8X-ray3.99B1-442[»]
6BN9X-ray4.38B1-442[»]
6BNBX-ray6.34B1-442[»]
6BOYX-ray3.33B1-442[»]
6H0FX-ray3.25B/E/H/K41-442[»]
6H0GX-ray4.25B/E41-397[»]
6UMLX-ray3.58C40-442[»]
6XK9X-ray3.64C/Z40-442[»]
7BQUX-ray1.90A318-426[»]
7BQVX-ray1.80A318-426[»]
7LPSX-ray3.78B/E/H/K47-436[»]
AlphaFoldDBiQ96SW2
SMRiQ96SW2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119360, 185 interactors
CORUMiQ96SW2
DIPiDIP-53521N
IntActiQ96SW2, 41 interactors
MINTiQ96SW2
STRINGi9606.ENSP00000231948

Chemistry databases

BindingDBiQ96SW2
ChEMBLiCHEMBL3763008
DrugBankiDB00480, Lenalidomide
DB08910, Pomalidomide
DB01041, Thalidomide
DrugCentraliQ96SW2
GuidetoPHARMACOLOGYi3086

Protein family/group databases

TCDBi8.A.162.1.1, the cereblon (crbn) family

PTM databases

iPTMnetiQ96SW2
PhosphoSitePlusiQ96SW2

Genetic variation databases

BioMutaiCRBN
DMDMi73918916

Proteomic databases

EPDiQ96SW2
jPOSTiQ96SW2
MassIVEiQ96SW2
MaxQBiQ96SW2
PaxDbiQ96SW2
PeptideAtlasiQ96SW2
PRIDEiQ96SW2
ProteomicsDBi78157 [Q96SW2-1]
78158 [Q96SW2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25089, 152 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		51185

Genome annotation databases

EnsembliENST00000231948.9; ENSP00000231948.4; ENSG00000113851.16
ENST00000432408.6; ENSP00000412499.2; ENSG00000113851.16 [Q96SW2-2]
GeneIDi51185
KEGGihsa:51185
MANE-SelectiENST00000231948.9; ENSP00000231948.4; NM_016302.4; NP_057386.2
UCSCiuc003bpq.4, human [Q96SW2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51185
DisGeNETi51185

GeneCards: human genes, protein and diseases

More...GeneCardsi		CRBN
HGNCiHGNC:30185, CRBN
HPAiENSG00000113851, Low tissue specificity
MalaCardsiCRBN
MIMi607417, phenotype
609262, gene
neXtProtiNX_Q96SW2
OpenTargetsiENSG00000113851
Orphaneti88616, Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA134926851
VEuPathDBiHostDB:ENSG00000113851

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1400, Eukaryota
GeneTreeiENSGT00390000016404
HOGENOMiCLU_025648_1_1_1
InParanoidiQ96SW2
OMAiAYQMYDS
PhylomeDBiQ96SW2
TreeFamiTF106115

Enzyme and pathway databases

UniPathwayiUPA00143
PathwayCommonsiQ96SW2
ReactomeiR-HSA-9679191, Potential therapeutics for SARS
SignaLinkiQ96SW2
SIGNORiQ96SW2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51185, 33 hits in 1120 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CRBN, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Cereblon

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		51185
PharosiQ96SW2, Tclin

Protein Ontology

More...PROi		PR:Q96SW2
RNActiQ96SW2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000113851, Expressed in corpus callosum and 237 other tissues
ExpressionAtlasiQ96SW2, baseline and differential
GenevisibleiQ96SW2, HS

Family and domain databases

CDDicd15777, CRBN_C_like, 1 hit
Gene3Di2.30.130.40, 1 hit
InterProiView protein in InterPro
IPR034750, CULT
IPR003111, Lon_prtase_N
IPR046336, Lon_prtase_N_sf
IPR015947, PUA-like_sf
IPR004910, Yippee/Mis18/Cereblon
PfamiView protein in Pfam
PF02190, LON_substr_bdg, 1 hit
PF03226, Yippee-Mis18, 1 hit
SMARTiView protein in SMART
SM00464, LON, 1 hit
SUPFAMiSSF88697, SSF88697, 1 hit
PROSITEiView protein in PROSITE
PS51788, CULT, 1 hit
PS51787, LON_N, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCRBN_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96SW2
Secondary accession number(s): B2R6H4
, C9IZA9, C9JAH6, Q6AI62, Q6NVZ0, Q9UHW4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 1, 2001
Last modified: May 25, 2022
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
  8. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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