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    CUL4B cullin 4B [ Homo sapiens ]

    Gene ID: 8450, updated on 4-Feb-2012
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    Summary

    Official Symbol
    CUL4Bprovided by HGNC
    Official Full Name
    cullin 4Bprovided by HGNC
    Primary source
    HGNC:2555
    See related
    Ensembl:ENSG00000158290; HPRD:02251; MIM:300304; Vega:OTTHUMG00000022302
    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
    SFM2; MRXSC; MRXHF2; MRXS15
    Summary
    This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    Xq23
    Sequence :
    Chromosome: X; NC_000023.10 (119658444..119709684, complement)
    See CUL4B in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene ATPase, Na+/K+ transporting, beta 4 polypeptide Neighboring gene lysosomal-associated membrane protein 2 Neighboring gene malignant T cell amplified sequence 1 Neighboring gene C1GALT1-specific chaperone 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. Nakagawa T, et al. Mol Cell, 2011 Aug 5. PMID 21816345.
    2. Cullin 4B protein ubiquitin ligase targets peroxiredoxin III for degradation. Li X, et al. J Biol Chem, 2011 Sep 16. PMID 21795677.
    3. COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding. Mao X, et al. J Biol Chem, 2011 Sep 16. PMID 21778237.
    4. CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Kerzendorfer C, et al. Mech Ageing Dev, 2011 Aug. PMID 21352845.
    5. Nuclear cyclin D1/CDK4 kinase regulates CUL4 expression and triggers neoplastic growth via activation of the PRMT5 methyltransferase. Aggarwal P, et al. Cancer Cell, 2010 Oct 19. PMID 20951943.

    See all (47) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the unexpected association of defective CUL4B with syndromal X-linked mental retardation in humans
      Title: CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
    2. Cullin 4B protein ubiquitin ligase targets peroxiredoxin III for degradation.
      Title: Cullin 4B protein ubiquitin ligase targets peroxiredoxin III for degradation.
    3. CUL4B targets WDR5 for ubiquitylation and degradation in the nucleus.
      Title: X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.
    4. Increased PRMT5 activity mediates key events associated with cyclin D1-dependent neoplastic growth, including CUL4 repression, CDT1 overexpression, and DNA rereplication.
      Title: Nuclear cyclin D1/CDK4 kinase regulates CUL4 expression and triggers neoplastic growth via activation of the PRMT5 methyltransferase.
    5. This study identifies CRL4-Cdt2 ubiquitin ligase to promote the ubiquitin-dependent proteolysis of the histone H4 methyltransferase Set8 during S-phase of the cell cycle and after UV-irradiation in a reaction that is dependent on PCNA.
      Title: CRL4(Cdt2) regulates cell proliferation and histone gene expression by targeting PR-Set7/Set8 for degradation.
    6. the interplay between CUL4A and CUL4B in pathogenesis of CUL4B-deficiency in humans
      Title: Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
    7. CUL4B is over-expressed in placenta in intra-uterine growth restriction.
      Title: Cullins in human intra-uterine growth restriction: expressional and epigenetic alterations.
    8. The CUL4B gene is associated with X-linked mental retardation syndrome.
      Title: A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
    9. Data show that that RNA interference of CUL4B led to an inhibition of cell proliferation and a prolonged S phase, due to the overaccumulation of cyclin E.
      Title: Characterization of nuclear localization signal in the N terminus of CUL4B and its essential role in cyclin E degradation and cell cycle progression.
    10. Studies indicate that CUL4 uses a large beta-propeller protein, DDB1, as a linker to interact with a subset of WD40 proteins.
      Title: CRL4s: the CUL4-RING E3 ubiquitin ligases.
    Submit: New GeneRIF Correction See all (19)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Mental retardation, X-linked, syndromic 15 (Cabezas type)

    Mental retardation-hypotonic facies syndrome, X-linked, 2

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q13620 P35869 AHR    HPRD  PubMed  
    Q13620 P10275 AR    HPRD  PubMed  
    Q13620 Q86VP6 CAND1    HPRD  PubMed  
    Q13620 P03372 ESR1    HPRD  PubMed  
    Q13620 Q15843 NEDD8    HPRD  PubMed  
    Q13620 P62877 RBX1    HPRD  PubMed  
    BioGRID:114028 BioGRID:120765 AMBRA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:127317 COMMD1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:114103 COPS3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:123251 DCAF11    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:123098 DCAF17    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:117545 DCAF4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:114343 DCAF5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:120933 DCAF6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:119121 DCAF8    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:122485 DDA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:108010 DDB2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114028 BioGRID:120387 DET1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:119582 DTL    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114028 BioGRID:199074 Ddb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:218345 Dtl    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:107581 ERCC8    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:123751 GRWD1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:115156 KEAP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:110034 KPNA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:110036 KPNA2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:110038 KPNA4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:110035 KPNB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:110815 NEDD8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:129421 POC1B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:111864 RBBP5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:115301 RBX1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:122136 RFWD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:120528 SMU1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:114805 SNRNP40    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:112943 TLE1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:112944 TLE2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:112945 TLE3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:117507 UBXN7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:115079 VPRBP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114028 BioGRID:123195 WDR26    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:121649 WDR48    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114028 BioGRID:116272 WDR5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:120039 WDR5B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:123255 WDR61    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:123035 WDR76    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114028 BioGRID:123245 WDR82    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114028 BioGRID:116677 WDTC1    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cul4-DDB1-CSA complex, organism-specific biosystem (from KEGG)
      Cul4-DDB1-CSA complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
    • Cul4-DDB1-DDB2 complex, organism-specific biosystem (from KEGG)
      Cul4-DDB1-DDB2 complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

    Clone Names

    • KIAA0695, DKFZp686F1470

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Cul4B-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cullin-RING ubiquitin ligase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    cullin-4B
    Names
    cullin-4B
    CUL-4B
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    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_009388.1 RefSeqGene

      Range
      5001..56241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079872.1 → NP_001073341.1  cullin-4B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter and unique N-terminus, compared to isoform 1.
      Source sequence(s)
      AC002476, AY365125, BX537787, BX647096, CV573599
      Consensus CDS
      CCDS43987.1
      UniProtKB/Swiss-Prot
      Q13620
      Related
      ENSP00000360373, OTTHUMP00000023947, ENST00000371322, OTTHUMT00000058105
      Conserved Domains (3) summary
      smart00182
      Location:578 – 718
      Blast Score: 459
      CULLIN; Cullin
      pfam00888
      Location:199 – 797
      Blast Score: 1384
      Cullin; Cullin family
      cl11186
      Location:824 – 889
      Blast Score: 266
      Cullin_Nedd8; Cullin protein neddylation domain

    2. NM_003588.3 → NP_003579.3  cullin-4B isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC002476, BC036216, CV573599, DB092748
      Consensus CDS
      CCDS35379.1
      UniProtKB/Swiss-Prot
      Q13620
      Related
      ENSP00000384109, OTTHUMP00000023946, ENST00000404115, OTTHUMT00000058103
      Conserved Domains (3) summary
      smart00182
      Location:596 – 736
      Blast Score: 459
      CULLIN; Cullin
      pfam00888
      Location:217 – 815
      Blast Score: 1384
      Cullin; Cullin family
      cl11186
      Location:842 – 907
      Blast Score: 266
      Cullin_Nedd8; Cullin protein neddylation domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      119658444..119709684, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      109109003..109160669, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC002476.1 AAB67315.1
    genomic AL451005.9 CAI41370.1
    genomic CH471107.2 EAX11876.1
      EAX11877.1
      EAX11878.1
      EAX11879.1
      EAX11880.1
    mRNA AB014595.2 BAA31670.2
    mRNA AF212995.1 AAK16812.1
    mRNA AK123688.1 BAG53936.1
    mRNA AK299081.1 BAH12944.1
    mRNA AK315037.1 BAG37520.1
    mRNA AY365125.1 AAR13073.1
    mRNA BC036216.1 AAH36216.1
    mRNA BX537641.1 None
    mRNA BX537787.1 CAD97843.1
    mRNA BX647096.1 None
    mRNA CR936722.1 None
    mRNA CV573599.1 None
    mRNA DB092748.1 None
    mRNA U58091.1 AAC50548.1
    other-genetic DQ894750.2 ABM85676.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q13620.4 GenPept UniProtKB/Swiss-Prot:Q13620
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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