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CUL4B cullin 4B [ Homo sapiens (human) ]

Gene ID: 8450, updated on 10-May-2020

Summary

Official Symbol
CUL4Bprovided by HGNC
Official Full Name
cullin 4Bprovided by HGNC
Primary source
HGNC:HGNC:2555
See related
Ensembl:ENSG00000158290 MIM:300304
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

Genomic context

See CUL4B in Genome Data Viewer
Location:
Xq24
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (120523858..120575829, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119658444..119709684, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 68 pseudogene Neighboring gene RNA, U7 small nuclear 86 pseudogene Neighboring gene Sharpr-MPRA regulatory region 11856 Neighboring gene MCTS1 re-initiation and release factor Neighboring gene C1GALT1 specific chaperone 1

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
Syndromic X-linked mental retardation, Cabezas type
MedGen: C1845861 OMIM: 300354 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-03)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-03)

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, detection of DNA damage TAS
Traceable Author Statement
more info
 
G1/S transition of mitotic cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UV-damage excision repair IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
histone H2A monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair, DNA damage recognition TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA duplex unwinding TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
positive regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
ribosome biogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Cul4-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul4-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Cul4B-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul4B-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cullin-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

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_001079872.2NP_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/Swiss-Prot
    Q13620
    Related
    ENSP00000360373.5, ENST00000371322.10
    Conserved Domains (2) summary
    smart00884
    Location:824889
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:200795
    Cullin; Cullin family
  2. NM_001330624.1NP_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
    K4DI93
    Related
    ENSP00000338919.6, ENST00000336592.11
    Conserved Domains (2) summary
    smart00884
    Location:829894
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:205800
    Cullin; Cullin family
  3. NM_001369145.1NP_001356074.1  cullin-4B isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC002476
    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_003588.3NP_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, DB092748
    Consensus CDS
    CCDS35379.1
    UniProtKB/Swiss-Prot
    Q13620
    Related
    ENSP00000384109.3, ENST00000404115.7
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    120523858..120575829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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