CUL4B cullin 4B [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Association of CUL4B with the pathogenesis of age-related cataract.
Title: Association of CUL4B with the pathogenesis of age-related cataract.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS425 (e-PCR)
- UniSTS:77057

DXS7272 (e-PCR)
- UniSTS:39947

G16011 (e-PCR)
- UniSTS:65807

DXS7904 (e-PCR)
- UniSTS:87105

DXS1212 (e-PCR), detects polymorphism
- UniSTS:72794

AL021607 (e-PCR)
- UniSTS:37507

CUL4B_575 (e-PCR)
- UniSTS:277141

SHGC-56967 (e-PCR)
- UniSTS:9644

RH103925 (e-PCR)
- UniSTS:98250

AL008931 (e-PCR)
- UniSTS:60143

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 more info	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

NG_009388.1 RefSeqGene

Range

19868..56972

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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