ENSG00000113851


Homo sapiens

Features
Gene ID: ENSG00000113851
  
Biological name :CRBN
  
Synonyms : cereblon / CRBN / Q96SW2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p26.2
Gene start: 3144628
Gene end: 3179727
  
Corresponding Affymetrix probe sets: 218142_s_at (Human Genome U133 Plus 2.0 Array)   222533_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411047
Ensembl peptide - ENSP00000392073
Ensembl peptide - ENSP00000412499
Ensembl peptide - ENSP00000491442
Ensembl peptide - ENSP00000486286
Ensembl peptide - ENSP00000231948
NCBI entrez gene - 51185     See in Manteia.
OMIM - 609262
RefSeq - XM_011533794
RefSeq - NM_001173482
RefSeq - NM_016302
RefSeq - XM_005265202
RefSeq - XM_011533791
RefSeq - XM_011533793
RefSeq Peptide - NP_057386
RefSeq Peptide - NP_001166953
swissprot - A0A0D9SF49
swissprot - J3QT51
swissprot - J3QT87
swissprot - A0A024R2H8
swissprot - Q96SW2
swissprot - A0A1W2PPJ5
Ensembl - ENSG00000113851
  
Related genetic diseases (OMIM): 607417 - Mental retardation, autosomal recessive 2, 607417
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 crbnENSDARG00000054250Danio rerio
 CRBNENSGALG00000008274Gallus gallus
 CrbnENSMUSG00000005362Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003111  Lon, substrate-binding domain
 IPR004910  Yippee/Mis18/Cereblon
 IPR015947  PUA-like superfamily
 IPR034750  CULT domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016567 protein ubiquitination IMP
 biological_processGO:0032463 negative regulation of protein homooligomerization IEA
 biological_processGO:0034766 negative regulation of ion transmembrane transport IEA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0090073 positive regulation of protein homodimerization activity IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031464 Cul4A-RING E3 ubiquitin ligase complex IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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