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CUL3 (cullin 3)

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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004141 hsa-miR-192-5p Microarray 16822819
MIRT032239 hsa-let-7b-5p Proteomics 18668040
MIRT048703 hsa-miR-99a-5p CLASH 23622248
MIRT047577 hsa-miR-10a-5p CLASH 23622248
MIRT040752 hsa-miR-18a-3p CLASH 23622248
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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.
 
KEGG
 
Reactome
  Ubiquitin mediated proteolysis
Hedgehog signaling pathway
  Degradation of DVL
Hedgehog 'on' state
Regulation of RAS by GAPs
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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
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

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