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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]
CUL3 (Cullin 3) is a Protein Coding gene. Diseases associated with CUL3 include Pseudohypoaldosteronism, Type Iie and Pseudohypoaldosteronism, Type Iia. Among its related pathways are Misspliced GSK3beta mutants stabilize beta-catenin and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ubiquitin-protein transferase activity. An important paralog of this gene is CUL4A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | contributes_to ubiquitin-protein transferase activity | IDA | 15983046 |
GO:0005112 | Notch binding | IPI | 25401743 |
GO:0005515 | protein binding | IPI | 12609982 |
GO:0030332 | cyclin binding | IEA | -- |
GO:0031208 | POZ domain binding | IDA | 14528312 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0000922 | spindle pole | IEA,IDA | 23213400 |
GO:0005634 | nucleus | IEA,IDA | 23213400 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 28395323 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Class I MHC mediated antigen processing and presentation | ||
3 | Developmental Biology |
.51
|
|
4 | Cytokine Signaling in Immune system | ||
5 | CDK-mediated phosphorylation and removal of Cdc6 |
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 by RNA polymerase II | IEA | -- |
GO:0000165 | MAPK cascade | TAS | -- |
GO:0000209 | protein polyubiquitination | IDA | 14528312 |
GO:0000278 | mitotic cell cycle | IEA | -- |
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | CUL3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CUL3 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | CUL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CUL3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cul3 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CUL3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cul3 30 |
|
||
Chicken (Gallus gallus) |
Aves | CUL3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CUL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cul3 30 |
|
||
Str.1179 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.5089 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CUL3 (2 of 2) 31 |
|
OneToMany | |
cul3a 31 |
|
OneToMany | |||
cul3b 30 |
|
||||
cul3 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3721 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | gft 32 |
|
|
|
Cul-3 30 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008105 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | cul-3 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CUL3 33 |
|
|
|
Rice (Oryza sativa) |
Liliopsida | Os04g0643000 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.2891 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11274 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
895162 | Uncertain Significance: Pseudohypoaldosteronism type 2E | 224,471,111(-) |
T/A NM_003590.5(CUL3):c.*3134A>T |
THREE_PRIME_UTR | |
895226 | Uncertain Significance: Pseudohypoaldosteronism type 2E | 224,473,330(-) |
T/C NM_003590.5(CUL3):c.*915A>G |
THREE_PRIME_UTR | |
895279 | Uncertain Significance: Pseudohypoaldosteronism type 2E | 224,502,988(-) |
T/G NM_003590.5(CUL3):c.1462A>C (p.Arg488=) |
SYNONYMOUS | |
895280 | Benign: Pseudohypoaldosteronism type 2E | 224,503,049(-) |
C/T NM_003590.5(CUL3):c.1401G>A (p.Thr467=) |
SYNONYMOUS | |
895281 | Uncertain Significance: Pseudohypoaldosteronism type 2E | 224,503,736(-) |
A/G NM_003590.5(CUL3):c.1293T>C (p.Tyr431=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2461086 | CNV | deletion | 19546169 |
esv2464203 | CNV | deletion | 19546169 |
nsv953190 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudohypoaldosteronism, type iie |
|
|
pseudohypoaldosteronism, type iia |
|
|
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
|
|
pseudohypoaldosteronism, type i, autosomal dominant |
|
|
pseudohypoaldosteronism |
|
|