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CUL4B cullin 4B [ Homo sapiens (human) ]

Gene ID: 8450, updated on 1-Apr-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
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Genomic context

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Location:
Xq24
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120523858..120575532, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118899322..118951000, complement)
105.20220307 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
  • 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-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature. Della Vecchia S, et al. Seizure, 2023 Jan. PMID 36476360
  2. Inhibition of MicroRNA miR-101-3p on prostate cancer progression by regulating Cullin 4B (CUL4B) and PI3K/AKT/mTOR signaling pathways. Gu Z, et al. Bioengineered, 2021 Dec. PMID 34338146, Free PMC Article
  3. Cul4b Promotes Progression of Malignant Cutaneous Melanoma Patients by Regulating CDKN2A. Zhang C, et al. Tohoku J Exp Med, 2021 May. PMID 34011786
  4. CUL4B regulates cancer stem-like traits of prostate cancer cells by targeting BMI1 via miR200b/c. Jiao M, et al. Prostate, 2019 Aug. PMID 31111526
  5. CUL4B promotes aggressive phenotypes of HNSCC via the activation of the Wnt/β-catenin signaling pathway. Wang Y, et al. Cancer Med, 2019 May. PMID 30883036, Free PMC Article

See all (268) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Insulin alleviates LPS-induced ARDS via inhibiting CUL4B-mediated proteasomal degradation and restoring expression level of Na,K-ATPase alpha1 subunit through elevating HCF-1.
    Title: Insulin alleviates LPS-induced ARDS via inhibiting CUL4B-mediated proteasomal degradation and restoring expression level of Na,K-ATPase α1 subunit through elevating HCF-1.
  10. Cullin-4B promotes cell proliferation and invasion through inactivation of p53 signaling pathway in colorectal cancer.
    Title: Cullin-4B promotes cell proliferation and invasion through inactivation of p53 signaling pathway in colorectal cancer.
Submit: New GeneRIF Correction See all GeneRIFs (79)

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
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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_2023_10

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

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