Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8452 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Cullin 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CUL3 |
SynonymsGene synonyms aliases
|
CUL-3, NEDAUS, PHA2E |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2q36.2 |
SummarySummary of gene provided in NCBI Entrez 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 com |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs199469649 |
A>C |
Pathogenic |
Intron variant |
rs199469650 |
T>C |
Pathogenic |
Intron variant |
rs199469651 |
A>C |
Pathogenic |
Intron variant |
rs199469652 |
A>T |
Pathogenic |
Intron variant |
rs199469653 |
G>A |
Pathogenic |
Intron variant |
rs199469654 |
C>T |
Pathogenic |
Splice acceptor variant |
rs199469655 |
C>T |
Pathogenic |
Coding sequence variant, synonymous variant |
rs199469656 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs199469657 |
CCTTTA>- |
Pathogenic |
Coding sequence variant, intron variant, splice donor variant |
rs199469658 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs199469659 |
->C |
Pathogenic |
Coding sequence variant, splice donor variant |
rs199469660 |
C>G |
Pathogenic |
Splice donor variant |
rs199469661 |
T>C |
Pathogenic |
Intron variant |
rs201496024 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs886038765 |
C>T |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
rs1553521389 |
AG>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1553535841 |
T>C |
Likely-pathogenic |
5 prime UTR variant, intron variant, coding sequence variant, missense variant |
rs1553602498 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1574631977 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000082 |
Process |
G1/S transition of mitotic cell cycle |
TAS |
8681378 |
GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
IEA |
|
GO:0000139 |
Component |
Golgi membrane |
IEA |
|
GO:0000165 |
Process |
MAPK cascade |
TAS |
|
GO:0000209 |
Process |
Protein polyubiquitination |
IDA |
14528312, 19261606 |
GO:0000922 |
Component |
Spindle pole |
IDA |
23213400 |
GO:0001831 |
Process |
Trophectodermal cellular morphogenesis |
IEA |
|
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IDA |
15983046, 19261606, 19782033, 20389280 |
GO:0005112 |
Function |
Notch binding |
IPI |
25401743 |
GO:0005515 |
Function |
Protein binding |
IPI |
12609982, 14528312, 18397884, 18573101, 18775313, 18826954, 19261606, 19427028, 19617556, 20389280, 21145461, 21577200, 21778237, 21828050, 21988832, 22466964, 22748208, 22939624, 23213400, 23563313, 23665031, 23776465, 24192928, 25270598, 25416956, 25502805, 26334369, 26906416, 269 |
GO:0005634 |
Component |
Nucleus |
IDA |
23213400 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
28395323 |
GO:0005813 |
Component |
Centrosome |
IDA |
23213400 |
GO:0005827 |
Component |
Polar microtubule |
IDA |
19995937 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
19617556 |
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IDA |
25401743, 27561354 |
GO:0006513 |
Process |
Protein monoubiquitination |
IDA |
22358839 |
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
IDA |
22358839 |
GO:0007080 |
Process |
Mitotic metaphase plate congression |
IMP |
17543862, 19995937 |
GO:0007229 |
Process |
Integrin-mediated signaling pathway |
ISS |
|
GO:0007369 |
Process |
Gastrulation |
IEA |
|
GO:0008284 |
Process |
Positive regulation of cell population proliferation |
TAS |
9733711 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016055 |
Process |
Wnt signaling pathway |
IEA |
|
GO:0016477 |
Process |
Cell migration |
IMP |
19782033 |
GO:0016567 |
Process |
Protein ubiquitination |
IBA |
21873635 |
GO:0016567 |
Process |
Protein ubiquitination |
IDA |
17543862, 19782033, 19995937, 20389280, 23213400 |
GO:0017145 |
Process |
Stem cell division |
ISS |
|
GO:0030030 |
Process |
Cell projection organization |
IEA |
|
GO:0030332 |
Function |
Cyclin binding |
IEA |
|
GO:0031145 |
Process |
Anaphase-promoting complex-dependent catabolic process |
IDA |
10500095 |
GO:0031208 |
Function |
POZ domain binding |
IDA |
14528312, 19261606 |
GO:0031398 |
Process |
Positive regulation of protein ubiquitination |
IGI |
24844779 |
GO:0031461 |
Component |
Cullin-RING ubiquitin ligase complex |
IBA |
21873635 |
GO:0031463 |
Component |
Cul3-RING ubiquitin ligase complex |
IDA |
14528312, 15983046, 17543862, 19158078, 19261606, 19782033, 19995937, 20389280, 22358839, 22578813, 23453970, 23455478, 23576762, 24768539, 26399832 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IBA |
21873635 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
14528312 |
GO:0031648 |
Process |
Protein destabilization |
IGI |
24844779 |
GO:0032467 |
Process |
Positive regulation of cytokinesis |
IMP |
19261606 |
GO:0035024 |
Process |
Negative regulation of Rho protein signal transduction |
IMP |
19782033 |
GO:0036126 |
Component |
Sperm flagellum |
IDA |
28395323 |
GO:0040016 |
Process |
Embryonic cleavage |
ISS |
|
GO:0043149 |
Process |
Stress fiber assembly |
IMP |
19782033 |
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IDA |
19261606, 19782033, 20389280 |
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0044346 |
Process |
Fibroblast apoptotic process |
IEA |
|
GO:0045842 |
Process |
Positive regulation of mitotic metaphase/anaphase transition |
IMP |
17543862 |
GO:0048208 |
Process |
COPII vesicle coating |
IMP |
22358839 |
GO:0051865 |
Process |
Protein autoubiquitination |
IDA |
14528312 |
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
IDA |
14528312 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867 |
GO:0071630 |
Process |
Nuclear protein quality control by the ubiquitin-proteasome system |
IDA |
27561354 |
GO:0072576 |
Process |
Liver morphogenesis |
IEA |
|
GO:0072686 |
Component |
Mitotic spindle |
IDA |
23213400 |
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
TAS |
|
GO:0097193 |
Process |
Intrinsic apoptotic signaling pathway |
TAS |
8681378 |
GO:1901992 |
Process |
Positive regulation of mitotic cell cycle phase transition |
IMP |
23213400 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
Q13618 |
Protein name |
Cullin-3 (CUL-3) |
Protein 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. BCR complexes and ARIH1 collaborate in tandem to m |
PDB |
2MYL
,
2MYM
,
4AP2
,
4APF
,
4EOZ
,
4HXI
,
5NLB
,
6I2M
,
8GQ6
,
8H33
,
8H34
,
8H35
,
8H36
,
8H37
,
8H38
,
8H3A
,
8H3F
,
8H3Q
,
8H3R
,
8I79
,
8K8T
,
8K9I
,
8KHP
,
8U80
,
8U81
,
8U82
,
8U83
,
8U84
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00888 |
Cullin |
34 → 665 |
Cullin family |
Family |
PF10557 |
Cullin_Nedd8 |
698 → 760 |
Cullin protein neddylation domain |
Domain |
|
Sequence |
|
Sequence length |
768 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
|
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
22535842 |
Multiple congenital anomalies |
Multiple congenital anomalies |
rs1057517732 |
18687424, 22495309, 23676014, 15071497, 10500095, 20065088, 16162871, 27824329, 21554755, 3002982, 22914163, 15511641, 24266877, 24267886, 23665959, 25969726, 18927510, 16595883, 15843622, 20880695, 24959344, 22266938, 17559828, 25363760, 15136734 |
Neurodevelopmental disorders |
Neurodevelopmental Disorders |
rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 |
28191889 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
Pseudohypoaldosteronism |
Pseudohypoaldosteronism, Pseudohypoaldosteronism, Type I, Autosomal Dominant, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism, Type IIa, PSEUDOHYPOALDOSTERONISM, TYPE IIE, Pseudohypoaldosteronism type 2E |
rs137853092, rs137853093, rs137853094, rs121912562, rs1560949756, rs1560910156, rs121912563, rs1560735659, rs121912564, rs121912565, rs121912566, rs121912567, rs121912568, rs121912569, rs121912570, rs121912571, rs121912572, rs121912573, rs121912574, rs1596779402, rs1567262640, rs1596779433, rs199469656, rs199469639, rs199469641, rs199469636, rs199469638, rs199469640, rs199469635, rs199469632, rs387907155, rs562736621, rs387907156, rs199469651, rs199469654, rs199469650, rs199469649, rs199469653, rs199469652, rs199469655, rs199469658, rs199469657, rs199469659, rs199469660, rs199469661, rs199469644, rs199469647, rs199469648, rs199469633, rs199469623, rs199469626, rs199469625, rs199469642, rs199469624, rs199469634, rs199469637, rs199469627, rs199469629, rs199469631, rs879255348, rs886038765, rs1131691921, rs1553523940, rs748573472, rs1553535841, rs1553986377, rs1560928649, rs550424284 |
22266938 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
30285260, 25056061, 29483656, 26198764, 28991256, 31268507 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Dysmorphic features |
Dysmorphic features |
|
23665959, 15843622, 27824329, 21554755, 23676014, 22266938, 22914163, 20065088, 24266877, 25969726, 25363760, 10500095, 16162871, 15136734, 20880695, 18687424, 18927510, 22495309, 17559828, 24959344, 3002982, 15071497, 24267886, 16595883, 15511641 |
Hyperchloremia |
Hyperchloremia |
|
|
Prostatic neoplasms |
Prostatic Neoplasms |
|
29610475 |
|
|
|