CUL3 cullin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CUL3provided by HGNC
Official Full Name: cullin 3provided by HGNC
Primary source: HGNC:HGNC:2553
See related: Ensembl:ENSG00000036257 MIM:603136; AllianceGenome:HGNC:2553
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: CUL-3; PHA2E; NEDAUS
Summary: This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Expression: Broad expression in testis (RPKM 53.6), esophagus (RPKM 12.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q36.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (224470150..224585363, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (224952401..225067578, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (225334867..225450080, complement)

Chromosome 2 - NC_000002.12 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?

CUL3 induces mitochondrial dysfunction via MRPL12 ubiquitination in renal tubular epithelial cells.
Title: CUL3 induces mitochondrial dysfunction via MRPL12 ubiquitination in renal tubular epithelial cells.
Investigation of cullin-3 gene expression changes in people with colorectal cancer and polyps in China.
Title: Investigation of cullin-3 gene expression changes in people with colorectal cancer and polyps in China.
BCLAF1-induced HIF-1alpha accumulation under normoxia enhances PD-L1 treatment resistances via BCLAF1-CUL3 complex.
Title: BCLAF1-induced HIF-1α accumulation under normoxia enhances PD-L1 treatment resistances via BCLAF1-CUL3 complex.
Structure and Function of RhoBTB1 Required for Substrate Specificity and Cullin-3 Ubiquitination.
Title: Structure and Function of RhoBTB1 Required for Substrate Specificity and Cullin-3 Ubiquitination.
Renal effects of cullin 3 mutations causing familial hyperkalemic hypertension.
Title: Renal effects of cullin 3 mutations causing familial hyperkalemic hypertension.
Structural and biochemical characterization establishes a detailed understanding of KEAP1-CUL3 complex assembly.
Title: Structural and biochemical characterization establishes a detailed understanding of KEAP1-CUL3 complex assembly.
Prenatal phthalate exposure and cord blood DNA methylation.
Title: Prenatal phthalate exposure and cord blood DNA methylation.
The differentially expressed gene signatures of the Cullin 3-RING ubiquitin ligases in neuroendocrine cancer.
Title: The differentially expressed gene signatures of the Cullin 3-RING ubiquitin ligases in neuroendocrine cancer.
CUL3/SPOP complex prevents immune escape and enhances chemotherapy sensitivity of ovarian cancer cells through degradation of PD-L1 protein.
Title: CUL3/SPOP complex prevents immune escape and enhances chemotherapy sensitivity of ovarian cancer cells through degradation of PD-L1 protein.
The expression of microRNA-197-3p regulates the proliferation of ovarian granulosa cells through CUL3 in polycystic ovarian syndrome.
Title: The expression of microRNA-197-3p regulates the proliferation of ovarian granulosa cells through CUL3 in polycystic ovarian syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (114)

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
Neurodevelopmental disorder with or without autism or seizures MedGen: C5543225 OMIM: 619239 GeneReviews: Not available	Compare labs
Pseudohypoaldosteronism type 2E MedGen: C3469606 OMIM: 614496 GeneReviews: Pseudohypoaldosteronism Type II	Compare labs
Pseudohypoaldosteronism, type 2 MedGen: C1449844 GeneReviews: Pseudohypoaldosteronism Type II	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2605 (e-PCR)
- UniSTS:81956

D2S1988 (e-PCR)
- UniSTS:65335

SHGC-80864 (e-PCR)
- UniSTS:102511

A009S22 (e-PCR)
- UniSTS:50298

G32809 (e-PCR)
- UniSTS:117388

RH47436 (e-PCR)
- UniSTS:10384

CUL3_313 (e-PCR)
- UniSTS:277139

D2S1630E (e-PCR)
- UniSTS:150692

CUL3-1 (e-PCR)
- UniSTS:510383

RH119703 (e-PCR)
- UniSTS:133072

RH91730 (e-PCR)
- UniSTS:89849

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables POZ domain binding	IDA Inferred from Direct Assay more info	PubMed
enables cyclin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin ligase complex scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII vesicle coating	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G1/S transition of mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within anaphase-promoting complex-dependent catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in embryonic cleavage	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in gastrulation	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in intrinsic apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in liver morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear protein quality control by the ubiquitin-proteasome system	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cell cycle phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic metaphase/anaphase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein ubiquitination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein destabilization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein monoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation protein catabolic process at postsynapse	IEA Inferred from Electronic Annotation more info
involved_in stem cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in trophectodermal cellular morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in polar microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cullin-3

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_032169.1 RefSeqGene

Range

5035..120248

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001257197.2 → NP_001244126.1 cullin-3 isoform 2

See identical proteins and their annotated locations for NP_001244126.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, comapred to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AB014517, AC073052, AK299644, BQ688156

Consensus CDS

CCDS58751.1

UniProtKB/Swiss-Prot

Q13618

UniProtKB/TrEMBL

B7Z600

Related

ENSP00000343601.4, ENST00000344951.8

Conserved Domains (2) summary

pfam00888
Location:32 → 599

Cullin; Cullin family

pfam10557
Location:632 → 693

Cullin_Nedd8; Cullin protein neddylation domain
NM_001257198.2 → NP_001244127.1 cullin-3 isoform 3

See identical proteins and their annotated locations for NP_001244127.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AB014517, AC073052, AK308496

UniProtKB/Swiss-Prot

Q13618

Related

ENSP00000387200.1, ENST00000409096.5

Conserved Domains (3) summary

smart00182
Location:427 → 569

CULLIN; Cullin

pfam00888
Location:41 → 670

Cullin; Cullin family

pfam10557
Location:706 → 766

Cullin_Nedd8; Cullin protein neddylation domain
NM_003590.5 → NP_003581.1 cullin-3 isoform 1

See identical proteins and their annotated locations for NP_003581.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AB014517, AC073052, BQ688156

Consensus CDS

CCDS2462.1

UniProtKB/Swiss-Prot

A8K536, B8ZZC3, O75415, Q13618, Q569L3, Q9UBI8, Q9UET7

Related

ENSP00000264414.4, ENST00000264414.9

Conserved Domains (2) summary

pfam00888
Location:34 → 665

Cullin; Cullin family

pfam10557
Location:698 → 759

Cullin_Nedd8; Cullin protein neddylation domain

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

224470150..224585363 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712800.3 → XP_006712863.2 cullin-3 isoform X1

See identical proteins and their annotated locations for XP_006712863.2

Related

ENSP00000386525.1, ENST00000409777.5

Conserved Domains (2) summary

smart00884
Location:684 → 751

Cullin_Nedd8; Cullin protein neddylation domain

pfam00888
Location:23 → 654

Cullin; Cullin family
XM_011511995.2 → XP_011510297.1 cullin-3 isoform X2

Conserved Domains (3) summary

smart00182
Location:407 → 549

CULLIN; Cullin

pfam00888
Location:21 → 650

Cullin; Cullin family

pfam10557
Location:686 → 746

Cullin_Nedd8; Cullin protein neddylation domain
XM_011511996.3 → XP_011510298.1 cullin-3 isoform X3

See identical proteins and their annotated locations for XP_011510298.1

Conserved Domains (2) summary

pfam00888
Location:34 → 601

Cullin; Cullin family

pfam10557
Location:634 → 695

Cullin_Nedd8; Cullin protein neddylation domain
XM_047446024.1 → XP_047301980.1 cullin-3 isoform X3