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    CUL4B cullin 4B [ Homo sapiens (human) ]

    Gene ID: 8450, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001079872.2NP_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:824889
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:199796
      Cullin; Cullin family
    2. NM_001330624.2NP_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:829894
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:204801
      Cullin; Cullin family
    3. NM_001369145.1NP_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:646711
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:21618
      Cullin; Cullin family
    4. NM_003588.4NP_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:596736
      CULLIN; Cullin
      smart00884
      Location:842907
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:218813
      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)