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Aliases for CUL3 Gene

Aliases for CUL3 Gene

  • Cullin 3 2 3
  • CUL-3 3 4
  • KIAA0617 4
  • PHA2E 3

External Ids for CUL3 Gene

Previous GeneCards Identifiers for CUL3 Gene

  • GC02M223357
  • GC02M224055
  • GC02M225298
  • GC02M225537
  • GC02M225160
  • GC02M225043
  • GC02M217186

Summaries for CUL3 Gene

Entrez Gene Summary for CUL3 Gene

  • 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]

GeneCards Summary for CUL3 Gene

CUL3 (Cullin 3) is a Protein Coding gene. Diseases associated with CUL3 include pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iie. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and ubiquitin-protein transferase activity. An important paralog of this gene is CUL1.

UniProtKB/Swiss-Prot for CUL3 Gene

  • Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1 (By similarity). The functional specificity of the BCR complex depends on the BTB domain-containing protein as the substrate recognition component. BCR(KLHL42) is involved in ubiquitination of KATNA1. BCR(SPOP) is involved in ubiquitination of BMI1/PCGF4, BRMS1, H2AFY and DAXX, GLI2 and GLI3. Can also form a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL; these complexes have lower ubiquitin ligase activity. BCR(KLHL9-KLHL13) controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. BCR(KLHL12) is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). BCR(KLHL3) acts as a regulator of ion transport in the distal nephron; by mediating ubiquitination of WNK4. The BCR(KLHL20) E3 ubiquitin ligase complex is involved in interferon response and anterograde Golgi to endosome transport: it mediates both ubiquitination leading to degradation and Lys-33-linked ubiquitination (PubMed:20389280, PubMed:21840486, PubMed:21670212, PubMed:24768539). The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. The BCR(KLHL25) ubiquitin ligase complex is involved in translational homeostasis by mediating ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1). Involved in ubiquitination of cyclin E and of cyclin D1 (in vitro) thus involved in regulation of G1/S transition. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and RBX1, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. The BCR(KCTD17) E3 ubiquitin ligase complex mediates ubiquitination and degradation of TCHP, a down-regulator of cilium assembly, thereby inducing ciliogenesis (PubMed:25270598).

Gene Wiki entry for CUL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CUL3 Gene

Genomics for CUL3 Gene

Regulatory Elements for CUL3 Gene

Genomic Location for CUL3 Gene

Chromosome:
2
Start:
224,470,150 bp from pter
End:
224,585,397 bp from pter
Size:
115,248 bases
Orientation:
Minus strand

Genomic View for CUL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CUL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CUL3 Gene

Proteins for CUL3 Gene

  • Protein details for CUL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13618-CUL3_HUMAN
    Recommended name:
    Cullin-3
    Protein Accession:
    Q13618
    Secondary Accessions:
    • A8K536
    • B8ZZC3
    • O75415
    • Q569L3
    • Q9UBI8
    • Q9UET7

    Protein attributes for CUL3 Gene

    Size:
    768 amino acids
    Molecular mass:
    88930 Da
    Quaternary structure:
    • Forms neddylation-dependent homodimers. Component of multiple BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes formed of CUL3, RBX1 and a variable BTB domain-containing protein acting as both, adapter to cullin and substrate recognition subunit. The BCR complex may be active as a heterodimeric complex, in which NEDD8, covalently attached to one CUL3 molecule, binds to the C-terminus of a second CUL3 molecule. Interacts with RBX1, RNF7, CYCE and TIP120A/CAND1. Part of the BCR(SPOP) containing SPOP, and of BCR containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL. Part of the probable BCR(KLHL9-KLHL13) complex with BTB domain proteins KLHL9 and KLHL13. Part of the BCR(KLHL41) complex containing KLHL41. Component of the BCR(KLHL12) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL12 and RBX1. Component of the BCR(KLHL3) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL3 and RBX1 (Probable). Part of the BCR(ENC1) complex containing ENC1. Part of a complex consisting of BMI1/PCGF4, CUL3 and SPOP. Part of a complex consisting of BRMS1, CUL3 and SPOP. Component of the BCR(KLHL21) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL21 and RBX1. Component of the BCR(KLHL22) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL22 and RBX1. Component of the BCR(KLHL25) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL25 and RBX1. Part of a complex consisting of H2AFY, CUL3 and SPOP. Component of the BCR(KLHL42) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL42. Interacts with KLHL42 (via the BTB domain). Interacts with KATNA1; the interaction is enhanced by KLHL42. Interacts with KCTD5, KLHL9, KLHL11, KLHL13, GAN, ZBTB16, KLHL3, KLHL15, KLHL20, KLHL36, GMCL1P1, BTBD1. Part of a complex that contains CUL3, RBX1 and GAN. Interacts (via BTB domain) with KLHL17; the interaction regulates surface GRIK2 expression. Interacts with KCTD7. Part of the BCR(GAN) complex containing GAN. Part of the BCR(KEAP1) complex containing KEAP1. Interacts with KLHL10 (By similarity). Interacts with KAT5 and ATF2. Interacts with DCUN1D3. Interacts with KCTD17 in the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1 (PubMed:25270598).
    SequenceCaution:
    • Sequence=AAC28621.1; Type=Frameshift; Positions=452; Evidence={ECO:0000305}; Sequence=AAC36682.1; Type=Frameshift; Positions=159, 179; Evidence={ECO:0000305}; Sequence=BAA31592.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CUL3 Gene

    Alternative splice isoforms for CUL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CUL3 Gene

Proteomics data for CUL3 Gene at MOPED

Post-translational modifications for CUL3 Gene

  • Neddylated. Attachment of NEDD8 is required for the E3 ubiquitin-protein ligase activity of the BCR complex. Deneddylated via its interaction with the COP9 signalosome (CSN) complex.
  • Ubiquitination at Lys 28, Lys 262, Lys 292, Lys 349, Lys 638, Lys 668, and Lys 700
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CUL3 (CUL3)

No data available for DME Specific Peptides for CUL3 Gene

Domains & Families for CUL3 Gene

Gene Families for CUL3 Gene

Suggested Antigen Peptide Sequences for CUL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13618

UniProtKB/Swiss-Prot:

CUL3_HUMAN :
  • Belongs to the cullin family.
Family:
  • Belongs to the cullin family.
genes like me logo Genes that share domains with CUL3: view

Function for CUL3 Gene

Molecular function for CUL3 Gene

GENATLAS Biochemistry:
cullin 3,salicylate suppressible gene,89kDa,C elegans cullin/Cdc53 (CUL) family member,likely involved in cell proliferation control
UniProtKB/Swiss-Prot Function:
Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1 (By similarity). The functional specificity of the BCR complex depends on the BTB domain-containing protein as the substrate recognition component. BCR(KLHL42) is involved in ubiquitination of KATNA1. BCR(SPOP) is involved in ubiquitination of BMI1/PCGF4, BRMS1, H2AFY and DAXX, GLI2 and GLI3. Can also form a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL; these complexes have lower ubiquitin ligase activity. BCR(KLHL9-KLHL13) controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. BCR(KLHL12) is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). BCR(KLHL3) acts as a regulator of ion transport in the distal nephron; by mediating ubiquitination of WNK4. The BCR(KLHL20) E3 ubiquitin ligase complex is involved in interferon response and anterograde Golgi to endosome transport: it mediates both ubiquitination leading to degradation and Lys-33-linked ubiquitination (PubMed:20389280, PubMed:21840486, PubMed:21670212, PubMed:24768539). The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. The BCR(KLHL25) ubiquitin ligase complex is involved in translational homeostasis by mediating ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1). Involved in ubiquitination of cyclin E and of cyclin D1 (in vitro) thus involved in regulation of G1/S transition. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and RBX1, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. The BCR(KCTD17) E3 ubiquitin ligase complex mediates ubiquitination and degradation of TCHP, a down-regulator of cilium assembly, thereby inducing ciliogenesis (PubMed:25270598).

Gene Ontology (GO) - Molecular Function for CUL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 15983046
GO:0005515 protein binding IPI 12609982
GO:0030332 cyclin binding IEA --
GO:0031208 POZ domain binding IDA 19261606
GO:0031625 ubiquitin protein ligase binding IBA --
genes like me logo Genes that share ontologies with CUL3: view
genes like me logo Genes that share phenotypes with CUL3: view

Animal Models for CUL3 Gene

MGI Knock Outs for CUL3:

Animal Model Products

miRNA for CUL3 Gene

miRTarBase miRNAs that target CUL3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CUL3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CUL3 Gene

Localization for CUL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CUL3 Gene

Nucleus. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CUL3 Gene COMPARTMENTS Subcellular localization image for CUL3 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
golgi apparatus 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for CUL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IMP 22358839
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with CUL3: view

Pathways & Interactions for CUL3 Gene

SuperPathways for CUL3 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Immune System
3 Antigen processing- Ubiquitination and Proteasome degradation
4 Signaling by GPCR
5 Developmental Biology
genes like me logo Genes that share pathways with CUL3: view

Pathways by source for CUL3 Gene

PCR Array Products

UniProtKB/Swiss-Prot Q13618-CUL3_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for CUL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS 8681378
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000209 protein polyubiquitination IDA 19261606
genes like me logo Genes that share ontologies with CUL3: view

No data available for SIGNOR curated interactions for CUL3 Gene

Drugs & Compounds for CUL3 Gene

(1) Drugs for CUL3 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lysine Nutra 70
genes like me logo Genes that share compounds with CUL3: view

Transcripts for CUL3 Gene

Unigene Clusters for CUL3 Gene

Cullin 3:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CUL3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CUL3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - - -
SP5:
SP6:
SP7: - - - - - - -
SP8:
SP9:
SP10:

ExUns: 18a · 18b ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b · 22c
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CUL3 Gene

GeneLoc Exon Structure for
CUL3
ECgene alternative splicing isoforms for
CUL3

Expression for CUL3 Gene

mRNA expression in normal human tissues for CUL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CUL3 Gene

This gene is overexpressed in Lymph node (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CUL3 Gene



SOURCE GeneReport for Unigene cluster for CUL3 Gene Hs.372286

mRNA Expression by UniProt/SwissProt for CUL3 Gene

Q13618-CUL3_HUMAN
Tissue specificity: Widely expressed
genes like me logo Genes that share expression patterns with CUL3: view

Protein tissue co-expression partners for CUL3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CUL3 Gene

Orthologs for CUL3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CUL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CUL3 35
  • 96.01 (n)
  • 99.74 (a)
CUL3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CUL3 35
  • 94.56 (n)
  • 97.52 (a)
CUL3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cul3 35
  • 94.7 (n)
  • 99.48 (a)
Cul3 16
Cul3 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CUL3 35
  • 99.74 (n)
  • 100 (a)
CUL3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cul3 35
  • 94.06 (n)
  • 99.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CUL3 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CUL3 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves CUL3 35
  • 90 (n)
  • 99.6 (a)
CUL3 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CUL3 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cul3 35
  • 83.25 (n)
  • 98.7 (a)
Str.1179 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5089 35
zebrafish
(Danio rerio)
Actinopterygii cul3 35
cul3b 35
  • 79.03 (n)
  • 97.52 (a)
CUL3 (2 of 2) 36
  • 97 (a)
OneToMany
cul3a 36
  • 95 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3721 35
fruit fly
(Drosophila melanogaster)
Insecta gft 37
  • 69 (a)
Cul-3 35
  • 62.2 (n)
  • 70.17 (a)
Cul-3 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008105 35
  • 62.08 (n)
  • 72.35 (a)
worm
(Caenorhabditis elegans)
Secernentea cul-3 35
  • 53.04 (n)
  • 49.8 (a)
cul-3 36
  • 49 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CUL3 38
barley
(Hordeum vulgare)
Liliopsida Hv.2891 35
rice
(Oryza sativa)
Liliopsida Os04g0643000 35
  • 57.04 (n)
  • 54.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11274 36
  • 72 (a)
OneToOne
Species with no ortholog for CUL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CUL3 Gene

ENSEMBL:
Gene Tree for CUL3 (if available)
TreeFam:
Gene Tree for CUL3 (if available)

Paralogs for CUL3 Gene

Paralogs for CUL3 Gene

(4) SIMAP similar genes for CUL3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CUL3: view

Variants for CUL3 Gene

Sequence variations from dbSNP and Humsavar for CUL3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs9668 -- 224,474,206(-) GTACT(A/C)TTCGC utr-variant-3-prime
rs765409 -- 224,533,632(+) GATGC(A/G)ATTTA intron-variant
rs767146 -- 224,524,167(+) GATTC(C/T)GGAGA intron-variant
rs931544 -- 224,493,523(-) CAACT(C/T)TATCT intron-variant
rs940316 -- 224,493,403(-) GAAAT(G/T)TGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CUL3 Gene

Variant ID Type Subtype PubMed ID
nsv875903 CNV Loss 21882294
dgv4440n71 CNV Loss 21882294
nsv875907 CNV Gain 21882294
nsv875908 CNV Loss 21882294
nsv875909 CNV Gain 21882294
esv2464203 CNV Deletion 19546169
esv2461086 CNV Deletion 19546169

Variation tolerance for CUL3 Gene

Residual Variation Intolerance Score: 9.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.93; 79.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CUL3 Gene

HapMap Linkage Disequilibrium report
CUL3
Human Gene Mutation Database (HGMD)
CUL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CUL3 Gene

Disorders for CUL3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CUL3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pseudohypoaldosteronism, type iia
  • pseudohypoaldosteronism type iia
pseudohypoaldosteronism, type iie
  • pseudohypoaldosteronism, type iid
pseudohypoaldosteronism
- elite association
Search CUL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CUL3_HUMAN
  • Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496]: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. {ECO:0000269 PubMed:22266938}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CUL3

Genetic Association Database (GAD)
CUL3
Human Genome Epidemiology (HuGE) Navigator
CUL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CUL3
genes like me logo Genes that share disorders with CUL3: view

No data available for Genatlas for CUL3 Gene

Publications for CUL3 Gene

  1. The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses. (PMID: 20389280) Lee Y.R. … Chen R.H. (EMBO J. 2010) 23 67
  2. Molecular mechanisms of Nrf2-mediated antioxidant response. (PMID: 18618599) Li W. … Kong A.N. (Mol. Carcinog. 2009) 23 67
  3. Regulation of Hh signal transduction as Drosophila eye differentiation progresses. (PMID: 19761763) Baker N.E. … Firth L.C. (Dev. Biol. 2009) 23 67
  4. Cul3 overexpression depletes Nrf2 in breast cancer and is associated with sensitivity to carcinogens, to oxidative stress, and to chemotherapy. (PMID: 19638449) Loignon M. … Batist G. (Mol. Cancer Ther. 2009) 23 67
  5. KEAP1 E3 ligase-mediated downregulation of NF-kappaB signaling by targeting IKKbeta. (PMID: 19818716) Lee D.F. … Hung M.C. (Mol. Cell 2009) 23 67

Products for CUL3 Gene

Sources for CUL3 Gene

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