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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CUL4B Gene

protein-coding   GIFtS: 62
GCID: GC0XM119658

cullin 4B
 Explore 16 diseases affiliated with
CUL4B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CUL4B    

Aliases
for CUL4B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cullin 4B1 2     MRXSC2 5
CUL-4B2 3     SFM22 5
MRXHF22 5     Cullin-4B1
MRXS152 5     KIAA06953

External Ids:    HGNC: 25551   Entrez Gene: 84502   Ensembl: ENSG000001582907   OMIM: 3003045   UniProtKB: Q136203   

Export aliases for CUL4B gene to outside databases

Previous GC identifers: GC0XM114476 GC0XM116644 GC0XM117633 GC0XM118412 GC0XM119440 GC0XM119543 GC0XM109109


Summaries
for CUL4B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CUL4B:
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)

UniProtKB/Swiss-Prot: CUL4B_HUMAN, Q13620
Function: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the
ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3
ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the
complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the
ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of
CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage. Targeted to UV damaged
chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E,
and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway
involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is
dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8

Gene Wiki entry for CUL4B


Genomic Views
for CUL4B gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CUL4B gene promoter:
         Nkx3-1   USF1   Sp1   p53   p300   YY1   N-Myc   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CUL4B promoter sequence
   Search SABiosciences Chromatin IP Primers for CUL4B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CUL4B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq23

CUL4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CUL4B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM119658:  view genomic region     (about GC identifiers)

Start:
 119,658,444 bp from pter      End:
 119,709,684 bp from pter
Size:
 51,241 bases      Orientation:
 minus strand

Proteins
for CUL4B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CUL4B_HUMAN, Q13620 (See protein sequence)
Recommended Name: Cullin-4B  
Size: 913 amino acids; 103982 Da
Subunit: Component of multiple DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes that seem to be formed of
DDB1, CUL4A or CUL4B, RBX1 and a variable substrate recognition component which seems to belong to a protein family
described as DCAF (Ddb1- and Cul4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Component of
the DCX(DTL) complex with the putative substrate recognition component DTL. Component of the DCX(DDB2) complex with
the putative substrate recognition component DDB2. Part of a complex with RBX1 and TIP120A/CAND1. Interacts with RBX1
GRWD1, MLST8, SMU1, TLE2, TLE3, VPRBP, DDA1, DCAF6, DCAF17, DDB2, DCAF8, TIP120A/CAND1 and TMEM113. Interacts with
cyclin E and with importins alpha-1 (KPNA2), alpha-3 (KPNA4), alpha-5 (KPNA1) and beta-1 (KPNB1). May interact with
WDR26, WDR51B, SNRNP40, WDR61, WDR76 and WDR5
Subcellular location: Nucleus
Sequence caution: Sequence=AAB67315.1; Type=Erroneous gene model prediction; Sequence=AAK16812.1; Type=Frameshift;
Positions=115;
4 PDB 3D structures from and Proteopedia for CUL4B:
2DO7 (3D)        4A0C (3D)        4A0L (3D)        4A64 (3D)    
Secondary accessions: B1APK5 B3KVX4 B7Z5K8 Q6PIE4 Q6UP07 Q7Z673 Q9BY37 Q9UEB7 Q9UED7
Alternative splicing: 3 isoforms:  Q13620-2   Q13620-1   Q13620-3   (Contains a N-acetylmethionine at position 1. Contains a phosphoserine at position 8. Contains a phosphoserine at position 10)

Explore the universe of human proteins at neXtProt for CUL4B: NX_Q13620

Post-translational modifications:

  • Neddylated. Deneddylated via its interaction with the COP9 signalosome (CSN) complex1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13620

    • CUL4B Protein expression data from MOPED and PaxDb:    About this image 
    CUL4B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001073341.1  NP_003579.3  

    ENSEMBL proteins: 
     ENSP00000360373   ENSP00000338919   ENSP00000384109   ENSP00000360374  

    Human Recombinant Protein Products for CUL4B: 
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    Novus Biologicals CUL4B Protein
    Novus Biologicals CUL4B Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CUL4B

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005886plasma membrane IDA--
    GO:0031461cullin-RING ubiquitin ligase complex ----
    GO:0031465Cul4B-RING ubiquitin ligase complex IDA18794347

    CUL4B for ontologies           About GeneDecksing



    CUL4B Antibody Products: 
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    Novus Biologicals CUL4B Antibodies
    Abcam antibodies for CUL4B 
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    Uscn ELISAs and CLIAs for CUL4B

    Protein Domains /
    Families
    for CUL4B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CUL4B for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR016159 Cullin_repeat-like_dom
     IPR019559 Cullin_neddylation_domain
     IPR016157 Cullin_CS
     IPR001373 Cullin_N
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q13620

    ProtoNet protein and cluster: Q13620

    1 Blocks protein family: IPB001373 Cullin

    UniProtKB/Swiss-Prot: CUL4B_HUMAN, Q13620
    Similarity: Belongs to the cullin family


    Function
    for CUL4B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CUL4B_HUMAN, Q13620
    Function: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the
    ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3
    ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the
    complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the
    ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of
    CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage. Targeted to UV damaged
    chromatin by DDB2 and may be important for DNA repair and DNA replication. Required for ubiquitination of cyclin E,
    and consequently, normal G1 cell cycle progression. Regulates the mammalian target-of-rapamycin (mTOR) pathway
    involved in control of cell growth, size and metabolism. Specific CUL4B regulation of the mTORC1-mediated pathway is
    dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12609982
    GO:0031625ubiquitin protein ligase binding IEA--
         
    CUL4B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CUL4B:
     Increased cell death in HCT116  Increased cell death in breast 

         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cul4b):
     behavior/neurological  embryogenesis  nervous system 

    CUL4B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CUL4B 

    miRNA
    Products:            		miRTarBase miRNAs that target CUL4B:
    hsa-mir-155 (MIRT001556)

    OriGene 3'-UTR Clone (see all 2): CUL4B
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CUL4B
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate CUL4B (see all 34):
    hsa-miR-142-5p hsa-miR-579 hsa-miR-3664-5p hsa-miR-4272 hsa-miR-200a hsa-let-7a-2* hsa-miR-141 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmid: CUL4B 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUL4B (see all 7)
    OriGene shRNA RFP: CUL4B
    OriGene siRNA: CUL4B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUL4B
    Sirion Biotech Custom design and validation of potent shRNA sequences against CUL4B 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CUL4B 
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CUL4B (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CUL4B (NM_003588)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CUL4B 

    Cell Line
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    Search LifeMap BioReagents cell lines for CUL4B
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUL4B


    Pathways & Interactions
    for CUL4B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Global Genomic NER (GG-NER)
    		Nucleotide excision repair0.70
    2Antigen processing: Ubiquitination & Proteasome degradation
    		Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    2         Kegg Pathways  (Kegg details for CUL4B):
        Nucleotide excision repair
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: CUL4B_HUMAN, Q13620
    Pathway: Protein modification; protein ubiquitination


    CUL4B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CUL4B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/156 Interacting proteins for CUL4B (Q136201, 2, 3 ENSP000003841094) via UniProtKB, MINT, STRING, and/or I2D (see all 156)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4LP628053, ENSP000003482584I2D: score=1 STRING: ENSP00000348258
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007049cell cycle NAS8681378
    GO:0016567protein ubiquitination IEA--
    GO:0045732positive regulation of protein catabolic process IEA--

    CUL4B for ontologies           About GeneDecksing



    Drugs & Compounds
    for CUL4B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CUL4B
    Search CenterWatch for drugs/clinical trials and news about CUL4B 

    Transcripts
    for CUL4B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CUL4B gene (2 alternative transcripts): 
    NM_001079872.1  NM_003588.3  

    Unigene Cluster for CUL4B:

    Cullin 4B
    Hs.102914  [show with all ESTs]
    Unigene Representative Sequence: NM_003588
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371322(uc010nqq.3 uc004esv.3 uc004esw.3) ENST00000336592
    ENST00000404115 ENST00000497616 ENST00000371323 ENST00000467641 ENST00000486604


    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): CUL4B
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CUL4B
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate CUL4B (see all 34):
    hsa-miR-142-5p hsa-miR-579 hsa-miR-3664-5p hsa-miR-4272 hsa-miR-200a hsa-let-7a-2* hsa-miR-141 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmid: CUL4B 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CUL4B (see all 7)
    OriGene shRNA RFP: CUL4B
    OriGene siRNA: CUL4B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CUL4B
    Sirion Biotech Custom design and validation of potent shRNA sequences against CUL4B 
    Clone
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    Primer
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    Additional cDNA sequence: 

    AB014595.2 AF212995.1 AK123688.1 AK299081.1 AK315037.1 AY365125.1 BC036216.1 BX537787.1 
    BX647096.1 CR936722.1 U58091.1 

    16 DOTS entries:

    DT.40305957  DT.100831949  DT.443666  DT.121311139  DT.100717818  DT.91752442  DT.121311125  DT.100653336 
    DT.100653337  DT.75175626  DT.40125199  DT.121310980  DT.121311038  DT.86857972  DT.91753185  DT.100655219 

    24/308 AceView cDNA sequences (see all 308):

    CA436135 AI635036 AV654097 BC036216 BQ422243 AA313465 AB014595 AW072843 
    BU623053 BX474705 AA432055 BX342962 AW305321 AA370874 AA045927 NM_003588 
    AA902483 BE675814 BP366384 BE221452 AI963347 AL598104 C01429 AW474599 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CUL4B (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                              -           -     -     -                                                                     
    SP2:                                                              -           -     -     -                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                              -           -                                                                                 

    ExUns: 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b
    SP1:  -                                                   
    SP2:  -                                                   
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CUL4B

    Expression
    for CUL4B gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CUL4B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGTTTTCC
    CUL4B Expression
    About this image
    See CUL4B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CUL4B

    SOURCE GeneReport for Unigene cluster: Hs.102914
        SABiosciences Expression via Pathway-Focused PCR Arrays including CUL4B: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    Orthologs
    for CUL4B gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CUL4B gene from 8/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CUL4B1 cullin 4B 83.03(n)
    92.35(a)    		   422364  XM_420335.3  XP_420335.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CUL4B6
    		 --
    		 88(a)
    		 1 ↔ 1
    		 GL343839.1(8233-28752)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BU915683.12   -- 81.2(n)    BU915683.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cul4b1 cullin 4B 75.45(n)
    86.83(a)    		   560313  NM_001122844.1  NP_001116316.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta cul-43
    Cul-41    		 ubiquitin-protein ligase3
    Cullin-41    		 69(a)3
    60.29(n)1
    64.34(a)1    		   44B13
    357801  NM_001169613.11  NP_001163084.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea cul-43 Expression: all stages 33(a)   II(7302044-7305464)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CUL41 cullin4 58.01(n)
    55.63(a)    		   834663  NM_123990.2  NP_568658.1 
    rice
    (Oryza sativa)    		 Liliopsida AK059186.12   -- 74.83(n)    AK059186.1 


    ENSEMBL Gene Tree for CUL4B (if available)
    TreeFam Gene Tree for CUL4B (if available) 

    Paralogs
    for CUL4B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CUL4B gene
    CUL12  CUL32  CUL22  CUL4A2  CUL52  
    4 SIMAP similar genes for CUL4B using alignment to 3 protein entries:     CUL4B_HUMAN (see all proteins):
    CUL4A    CUL3    CUL2    CUL1

    CUL4B for paralogs           About GeneDecksing



    Genomic Variants
    for CUL4B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/523 NCBI SNPs in CUL4B are shown (see all 523)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214346161,2
    		Cpathogenic119678034(-) AACAAC/TGATTT 4 R * stg10--------
    rs1381400791,2
    		--119657959(+) ACACAA/GCAAAA 2 -- ds50010--------
    rs1495743221,2
    		--119657978(+) AGTATA/GGCTAG 2 -- ds50010--------
    rs1907473161,2
    		--119658059(+) AGAGTA/TTCTGG 2 -- ds50010--------
    rs115494111,2
    		C,H--119658564(+) TGAAAG/TTCACA 2 -- ut311Minor allele frequency- T:0.01NS 170
    rs142791,2
    		C--119658661(-) CTGTTT/CCAGCT 2 -- ut31 ese32Minor allele frequency- C:0.00MN NA 186
    rs1819784161,2
    		--119658756(+) CAGGAA/CCAACT 2 -- ut310--------
    rs558482121,2
    		C--119658825(+) ACCATC/TAGGGA 2 -- ut310--------
    rs1861453451,2
    		--119659078(+) ACTCAA/GGCAAA 2 -- ut310--------
    rs1904694091,2
    		--119659236(+) TTTCTA/GCTTCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CUL4B (119658444 - 119709684 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CUL4B: --
    Human Gene Mutation Database (HGMD): CUL4B

    Locus Specific Mutation Databases (LSDB): CUL4B

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for CUL4B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CUL4B for disorders           About GeneDecksing

    OMIM gene information: 300304   
    OMIM disorders: 300354  
    UniProtKB/Swiss-Prot: CUL4B_HUMAN, Q13620
  • Defects in CUL4B are the cause of mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]. A
    • syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short
    stature, craniofacial dysmorphism, small testes, muscle wasting in lower legs, kyphosis, joint hyperextensibility, pes
    cavus, small feet, and abnormalities of the toes. Additional neurologic manifestations include speech delay and
    impairment, tremor, seizures, gait ataxia, hyperactivity and decreased attention span

    16 diseases for CUL4B:    About MalaCards
    mental retardation, x-linked, syndromic 15 (cabezas type)    mental retardation, x-linked    mental retardation, x-linked syndromic    delayed puberty
    short stature    mental retardation syndrome    conjunctivochalasis    intellectual disability
    alagille syndrome    tremor    hypogonadism    seizures
    ataxia    obesity    malaria    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for CUL4B:
    Intellectual disability     Scheuermann's disease     Conjunctivochalasis

    Export disorders for CUL4B gene to outside databases

    Publications
    for CUL4B gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CUL4B gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with CUL4B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family. (PubMed id 8681378)1, 2, 3 Kipreos E.T.... Hedgecock E.M. (1996)
    2. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PubMed id 18593899)1, 2, 9 Guerrero-Santoro J.... Rapic-Otrin V. (2008)
    3. A novel nonsense mutation in CUL4B gene in three brot hers with X-linked mental retardation syndrome. (PubMed id 20002452)1, 2 Badura-Stronka M....Latos-BieleA8ska A. (2010)
    4. Characterization of nuclear localization signal in th e N terminus of CUL4B and its essential role in cyclin E degradation and cell c ycle progression. (PubMed id 19801544)1, 2 Zou Y....Gong Y. (2009)
    5. mTORC1 signaling requires proteasomal function and the involvement of CUL4-DDB1 ubiquitin E3 ligase. (PubMed id 18235224)1, 2 Ghosh P....Sun H. (2008)
    6. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. (PubMed id 17273978)1, 2 Zou Y.... Gong Y. (2007)
    7. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. (PubMed id 17236139)1, 2 Tarpey P.S.... Partington M. (2007)
    8. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PubMed id 16949367)1, 2 Jin J.... Walter J.C. (2006)
    9. Involvement of CUL4 ubiquitin E3 ligases in regulating CDK inhibitors Dacapo/p27Kip1 and cyclin E degradation. (PubMed id 16322693)1, 2 Higa L.A....Zhang H. (2006)
    10. Histone H3 and H4 ubiquitylation by the CUL4-DDB-ROC1 ubiquitin ligase facilitates cellular response to DNA damage. (PubMed id 16678110)1, 2 Wang H.... Zhang Y. (2006)

    External Searches for CUL4B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CUL4B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8450 HGNC: 2555 AceView: CUL4B Ensembl:ENSG00000158290 euGenes: HUgn8450
    ECgene: CUL4B Kegg: 8450 H-InvDB: CUL4B

    Other Databases showing CUL4B gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0695

    Specialized Databases showing CUL4B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CUL4B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CUL4B Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CUL4B

    Intellectual Property
    for CUL4B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CUL4B gene:
    Search GeneIP for patents involving CUL4B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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