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CRBN cereblon [ Homo sapiens (human) ]

Gene ID: 51185, updated on 4-Nov-2018

Summary

Official Symbol
CRBNprovided by HGNC
Official Full Name
cereblonprovided by HGNC
Primary source
HGNC:HGNC:30185
See related
Ensembl:ENSG00000113851 MIM:609262; Vega:OTTHUMG00000090261
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRT2; MRT2A
Summary
This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in testis (RPKM 17.6), brain (RPKM 16.5) and 25 other tissues See more
Orthologs

Genomic context

See CRBN in Genome Data Viewer
Location:
3p26.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (3148490..3179717, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (3191317..3221401, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986006 Neighboring gene interleukin 5 receptor subunit alpha Neighboring gene tRNA nucleotidyl transferase 1 Neighboring gene uncharacterized LOC100130207 Neighboring gene uncharacterized LOC107986007 Neighboring gene leucine rich repeat neuronal 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 2
MedGen: C1843942 OMIM: 607417 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC27358, DKFZp781K0715

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Cul4A-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein cereblon
Names
protein x 0001

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016864.1 RefSeqGene

    Range
    5001..35085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173482.1NP_001166953.1  protein cereblon isoform 2

    See identical proteins and their annotated locations for NP_001166953.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AA991754, AC024060, BC067811, DB456585
    Consensus CDS
    CCDS54547.1
    UniProtKB/Swiss-Prot
    Q96SW2
    Related
    ENSP00000412499.2, OTTHUMP00000209554, ENST00000432408.6, OTTHUMT00000343562
    Conserved Domains (2) summary
    cd15777
    Location:320421
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:79316
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
  2. NM_016302.3NP_057386.2  protein cereblon isoform 1

    See identical proteins and their annotated locations for NP_057386.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AA991754, AC024060, AL711072, BC017419, BX647351, DB456585
    Consensus CDS
    CCDS2562.1
    UniProtKB/Swiss-Prot
    Q96SW2
    UniProtKB/TrEMBL
    A0A024R2H8
    Related
    ENSP00000231948.4, OTTHUMP00000115288, ENST00000231948.8, OTTHUMT00000206579
    Conserved Domains (2) summary
    cd15777
    Location:321422
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:80317
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    3148490..3179717 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533791.3XP_011532093.1  protein cereblon isoform X1

    Related
    ENSP00000411047.1, OTTHUMP00000209555, ENST00000424814.5
    Conserved Domains (3) summary
    cl19481
    Location:75186
    LON; Found in ATP-dependent protease La (LON)
    cd15777
    Location:321378
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:80317
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
  2. XM_011533793.2XP_011532095.1  protein cereblon isoform X4

    See identical proteins and their annotated locations for XP_011532095.1

    Conserved Domains (2) summary
    cd15777
    Location:157258
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:82153
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
  3. XM_011533794.2XP_011532096.1  protein cereblon isoform X4

    See identical proteins and their annotated locations for XP_011532096.1

    Conserved Domains (2) summary
    cd15777
    Location:157258
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:82153
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
  4. XM_005265202.4XP_005265259.1  protein cereblon isoform X2

    See identical proteins and their annotated locations for XP_005265259.1

    Conserved Domains (3) summary
    cl19481
    Location:12123
    LON; Found in ATP-dependent protease La (LON)
    cd15777
    Location:258359
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:17254
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
  5. XM_024453551.1XP_024309319.1  protein cereblon isoform X3

    Conserved Domains (1) summary
    cl19481
    Location:80259
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

RNA

  1. XR_940448.3 RNA Sequence

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