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    CUL4B cullin 4B [ Homo sapiens (human) ]

    Gene ID: 8450, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CUL4Bprovided by HGNC
    Official Full Name
    cullin 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:2555
    See related
    Ensembl:ENSG00000158290 MIM:300304; AllianceGenome:HGNC:2555
    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; CUL-4B; 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]
    Expression
    Ubiquitous expression in testis (RPKM 18.5), ovary (RPKM 14.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CUL4B in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120523858..120575532, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118899322..118951000, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119657713..119709387, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900489 Neighboring gene RNA, U7 small nuclear 68 pseudogene Neighboring gene RNA, U7 small nuclear 86 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:119683276-119684475 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:119693886-119694771 and GRCh37_chrX:119694772-119695656 Neighboring gene uncharacterized LOC124905210 Neighboring gene uncharacterized LOC124905296 Neighboring gene MCTS1 re-initiation and release factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cul4B regulates neural progenitor cell growth. Liu HC, et al. BMC Neurosci, 2012 Sep 19. PMID 22992378, Free PMC Article
    2. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. Badura-Stronka M, et al. Clin Genet, 2010 Feb. PMID 20002452
    3. Knockdown of CUL4B inhibits proliferation and promotes apoptosis of colorectal cancer cells through suppressing the Wnt/β-catenin signaling pathway. Song B, et al. Int J Clin Exp Pathol, 2015. PMID 26617747, Free PMC Article
    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. Knockdown of CUL4B Suppresses the Proliferation and Invasion in Non-Small Cell Lung Cancer Cells. Wang X, et al. Oncol Res, 2016. PMID 27656838, Free PMC Article

    See all (293) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
      Title: Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
    2. Association of CUL4B with the pathogenesis of age-related cataract.
      Title: Association of CUL4B with the pathogenesis of age-related cataract.
    3. CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK.
      Title: CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK.
    4. Circ_0011058 alleviates RA pathology through the circ_0011058/miR-335-5p/CUL4B signal axis.
      Title: Circ_0011058 alleviates RA pathology through the circ_0011058/miR-335-5p/CUL4B signal axis.
    5. Cullin 4B Ubiquitin Ligase Is Important for Cell Survival and Regulates TGF-beta1 Expression in Pleural Mesothelioma.
      Title: Cullin 4B Ubiquitin Ligase Is Important for Cell Survival and Regulates TGF-β1 Expression in Pleural Mesothelioma.
    6. The CUL4B-based E3 ubiquitin ligase regulates mitosis and brain development by recruiting phospho-specific DCAFs.
      Title: The CUL4B-based E3 ubiquitin ligase regulates mitosis and brain development by recruiting phospho-specific DCAFs.
    7. Knockdown of circMFN2 inhibits cell progression and glycolysis by miR-198/CUL4B pathway in ovarian cancer.
      Title: Knockdown of circMFN2 inhibits cell progression and glycolysis by miR-198/CUL4B pathway in ovarian cancer.
    8. MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression.
      Title: MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression.
    9. CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
      Title: CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
    10. Lnc-TC/miR-142-5p/CUL4B signaling axis promoted cell ferroptosis to participate in benzene hematotoxicity.
      Title: Lnc-TC/miR-142-5p/CUL4B signaling axis promoted cell ferroptosis to participate in benzene hematotoxicity.
    Submit: New GeneRIF Correction See all GeneRIFs (81)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    X-linked intellectual disability Cabezas type
    MedGen: C1845861 OMIM: 300354 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-09)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacts with Cullin 4B in human cells PubMed
    Vpr vpr HIV-1 Vpr complexes with DCAF1, DDB1, CUL4A, CUL4B, and UNG2 proteins in the cullin4 (CUL4)-containing ubiquitin ligase complex in HEK293T cells PubMed
    vpr Depletion of both CUL4A and CUL4B by shRNA reduces HIV-1 Vpr-mediated G2 cell cycle arrest, which does not impact HIV-1 infectivity or cell viability PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0695, DKFZp686F1470

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in UV-damage excision repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to UV ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein polyubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosome biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex EXP
    Inferred from Experiment
    more info
    		 PubMed 
    part_of Cul4B-RING E3 ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul4B-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cullin-4B

    NCBI Reference Sequences (RefSeq)

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    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
      19868..56972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001073341.1

      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/TrEMBL
      A0A7P0TAQ3
      Related
      ENSP00000360373.5, ENST00000371322.11
      Conserved Domains (2) summary
      smart00884
      Location:824 → 889
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:199 → 796
      Cullin; Cullin family

    2. NM_001330624.2 → NP_001317553.1  cullin-4B isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC002476
      Consensus CDS
      CCDS83487.1
      UniProtKB/TrEMBL
      A0A7P0T954, K4DI93
      Related
      ENSP00000338919.6, ENST00000336592.11
      Conserved Domains (2) summary
      smart00884
      Location:829 → 894
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:204 → 801
      Cullin; Cullin family

    3. NM_001369145.1 → NP_001356074.1  cullin-4B isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC002476
      Consensus CDS
      CCDS94662.1
      UniProtKB/TrEMBL
      A0A7P0T9C8
      Related
      ENSP00000360374.3, ENST00000371323.3
      Conserved Domains (2) summary
      smart00884
      Location:646 → 711
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:21 → 618
      Cullin; Cullin family

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

      See identical proteins and their annotated locations for NP_003579.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC002476, BC036216, CV573599
      Consensus CDS
      CCDS35379.1
      UniProtKB/Swiss-Prot
      B1APK5, B3KVX4, B7Z5K8, Q13620, Q6PIE4, Q6UP07, Q7Z673, Q9BY37, Q9UEB7, Q9UED7
      UniProtKB/TrEMBL
      A0A7P0T954
      Related
      ENSP00000505084.1, ENST00000680673.1
      Conserved Domains (3) summary
      smart00182
      Location:596 → 736
      CULLIN; Cullin
      smart00884
      Location:842 → 907
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:218 → 813
      Cullin; Cullin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      120523858..120575532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118899322..118951000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13620.4 GenPept UniProtKB/Swiss-Prot:Q13620

    Gene LinkOut

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

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