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CUL4B cullin 4B [ Homo sapiens (human) ]

Gene ID: 8450, updated on 20-Apr-2019

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:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (120524589..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 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 FunctionsWhat'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

Pathways from BioSystems

  • Cul4-DDB1-CSA complex, organism-specific biosystem (from KEGG)
    Cul4-DDB1-CSA complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
  • Cul4-DDB1-CSA complex, conserved biosystem (from KEGG)
    Cul4-DDB1-CSA complex, conserved biosystemStructural complex; Genetic information processing; Ubiquitin system
  • Cul4-DDB1-DDB2 complex, organism-specific biosystem (from KEGG)
    Cul4-DDB1-DDB2 complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
  • Cul4-DDB1-DDB2 complex, conserved biosystem (from KEGG)
    Cul4-DDB1-DDB2 complex, conserved biosystemStructural complex; Genetic information processing; Ubiquitin system
  • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
    DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
  • DNA Damage Recognition in GG-NER, organism-specific biosystem (from REACTOME)
    DNA Damage Recognition in GG-NER, organism-specific biosystemIn global genome nucleotide excision repair (GG-NER), the DNA damage is recognized by two protein complexes. The first complex consists of XPC, RAD23A or RAD23B, and CETN2. This complex probes the DN...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
    Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
  • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
  • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
    Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
  • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
    Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
  • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Nucleotide excision repair, organism-specific biosystem (from KEGG)
    Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Nucleotide excision repair, conserved biosystem (from KEGG)
    Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Recognition of DNA damage by PCNA-containing replication complex, organism-specific biosystem (from REACTOME)
    Recognition of DNA damage by PCNA-containing replication complex, organism-specific biosystemDamaged double strand DNA (dsDNA) cannot be successfully used as a template by replicative DNA polymerase delta (POLD) and epsilon (POLE) complexes (Hoege et al. 2002). When the replication complex c...
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

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 
contributes_to ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding 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 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_001079872.1NP_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, ENST00000371322.9
    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, ENST00000336592.10
    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
  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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    120524589..120575829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262481.1XP_005262538.1  cullin-4B isoform X1

    Conserved Domains (3) summary
    smart00182
    Location:596738
    CULLIN; Cullin
    smart00884
    Location:844909
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:218815
    Cullin; Cullin family
  2. XM_006724784.1XP_006724847.1  cullin-4B isoform X2

    See identical proteins and their annotated locations for XP_006724847.1

    Conserved Domains (3) summary
    smart00182
    Location:583725
    CULLIN; Cullin
    smart00884
    Location:831896
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:205802
    Cullin; Cullin family
  3. XM_011531400.2XP_011529702.1  cullin-4B isoform X4

    UniProtKB/Swiss-Prot
    Q13620
    Conserved Domains (3) summary
    smart00182
    Location:400540
    CULLIN; Cullin
    smart00884
    Location:646711
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:22617
    Cullin; Cullin family
  4. XM_011531399.2XP_011529701.1  cullin-4B isoform X3

    Conserved Domains (3) summary
    smart00182
    Location:400542
    CULLIN; Cullin
    smart00884
    Location:648713
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:22619
    Cullin; Cullin family
  5. XM_011531401.1XP_011529703.1  cullin-4B isoform X5

    Conserved Domains (3) summary
    smart00182
    Location:382524
    CULLIN; Cullin
    smart00884
    Location:630695
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:29601
    Cullin; Cullin family
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