ENSG00000036257


Homo sapiens

Features
Gene ID: ENSG00000036257
  
Biological name :CUL3
  
Synonyms : CUL3 / cullin 3 / Q13618
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q36.2
Gene start: 224470150
Gene end: 224585397
  
Corresponding Affymetrix probe sets: 201370_s_at (Human Genome U133 Plus 2.0 Array)   201371_s_at (Human Genome U133 Plus 2.0 Array)   201372_s_at (Human Genome U133 Plus 2.0 Array)   242362_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400935
Ensembl peptide - ENSP00000400558
Ensembl peptide - ENSP00000410575
Ensembl peptide - ENSP00000484410
Ensembl peptide - ENSP00000477851
Ensembl peptide - ENSP00000264414
Ensembl peptide - ENSP00000343601
Ensembl peptide - ENSP00000386525
Ensembl peptide - ENSP00000387200
NCBI entrez gene - 8452     See in Manteia.
OMIM - 603136
RefSeq - XM_011511996
RefSeq - NM_001257197
RefSeq - NM_001257198
RefSeq - NM_003590
RefSeq - XM_006712800
RefSeq - XM_011511994
RefSeq - XM_011511995
RefSeq Peptide - NP_001244127
RefSeq Peptide - NP_001244126
RefSeq Peptide - NP_003581
swissprot - Q13618
swissprot - H7C1J0
swissprot - H7C1L6
swissprot - H7C399
swissprot - A0A087WTG3
swissprot - A0A024R475
swissprot - A0A087X1R9
Ensembl - ENSG00000036257
  
Related genetic diseases (OMIM): 614496 - Pseudohypoaldosteronism, type IIE, 614496
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cul3aENSDARG00000038967Danio rerio
 cul3bENSDARG00000100108Danio rerio
 CUL3ENSGALG00000005108Gallus gallus
 Cul3ENSMUSG00000004364Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CUL4A / Q13619 / cullin 4AENSG0000013984239
CUL4B / Q13620 / cullin 4BENSG0000015829038
CUL1 / Q13616 / cullin 1ENSG0000005513030
CUL2 / Q13617 / cullin 2ENSG0000010809426
CUL5 / Q93034 / cullin 5ENSG0000016626624


Protein motifs (from Interpro)
Interpro ID Name
 IPR001373  Cullin, N-terminal
 IPR016157  Cullin, conserved site
 IPR016158  Cullin homology domain
 IPR016159  Cullin repeat-like-containing domain superfamily
 IPR019559  Cullin protein, neddylation domain
 IPR036317  Cullin homology domain superfamily
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle TAS
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0000209 protein polyubiquitination IDA
 biological_processGO:0000278 mitotic cell cycle IEA
 biological_processGO:0000902 cell morphogenesis IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001831 trophectodermal cellular morphogenesis IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0006513 protein monoubiquitination IDA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport IDA
 biological_processGO:0007050 cell cycle arrest TAS
 biological_processGO:0007080 mitotic metaphase plate congression IMP
 biological_processGO:0007229 integrin-mediated signaling pathway ISS
 biological_processGO:0007369 gastrulation IEA
 biological_processGO:0008284 positive regulation of cell proliferation TAS
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0016477 cell migration IMP
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0017145 stem cell division ISS
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0031145 anaphase-promoting complex-dependent catabolic process IDA
 biological_processGO:0031398 positive regulation of protein ubiquitination IGI
 biological_processGO:0031648 protein destabilization IGI
 biological_processGO:0032467 positive regulation of cytokinesis IMP
 biological_processGO:0035024 negative regulation of Rho protein signal transduction IMP
 biological_processGO:0040016 embryonic cleavage ISS
 biological_processGO:0043149 stress fiber assembly IMP
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044346 fibroblast apoptotic process IEA
 biological_processGO:0045842 positive regulation of mitotic metaphase/anaphase transition IMP
 biological_processGO:0048208 COPII vesicle coating IMP
 biological_processGO:0071630 nuclear protein quality control by the ubiquitin-proteasome system IDA
 biological_processGO:0072576 liver morphogenesis IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway TAS
 biological_processGO:0097193 intrinsic apoptotic signaling pathway TAS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005827 polar microtubule IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0031461 cullin-RING ubiquitin ligase complex IEA
 cellular_componentGO:0031463 Cul3-RING ubiquitin ligase complex IDA
 cellular_componentGO:0036126 sperm flagellum IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IDA
 molecular_functionGO:0005112 Notch binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030332 cyclin binding IEA
 molecular_functionGO:0031208 POZ domain binding IDA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IBA


Pathways (from Reactome)
Pathway description
Degradation of DVL
Hedgehog on state
Regulation of RAS by GAPs
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001942 Metabolic acidosis 
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 HP:0002153 Hyperkalemia 
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 HP:0004918 hyperchloremic metabolic acidosis 
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 HP:0008242 Pseudohypoaldosteronism 
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 HP:0011423 Hyperchloremia "An abnormally increased `chloride` (CHEBI:17996) concentration in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / complex / reaction
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / complex
 ENSG00000129559 NEDD8 / Q15843 / neural precursor cell expressed, developmentally down-regulated 8  / complex
 ENSG00000036257 CUL3 / Q13618 / cullin 3  / complex
 ENSG00000161202 DVL3 / Q92997 / dishevelled segment polarity protein 3  / complex / reaction
 ENSG00000173163 COMMD1 / Q8N668 / copper metabolism domain containing 1  / complex / reaction
 ENSG00000074047 GLI2 / P10070 / GLI family zinc finger 2  / complex / reaction
 ENSG00000121067 SPOP / O43791 / speckle type BTB/POZ protein  / complex
 ENSG00000101997 CCDC22 / O60826 / coiled-coil domain containing 22  / complex / reaction
 ENSG00000120696 KBTBD7 / Q8WVZ9 / kelch repeat and BTB domain containing 7  / complex
 ENSG00000106571 GLI3 / P10071 / GLI family zinc finger 3  / complex / reaction
 ENSG00000117153 KLHL12 / Q53G59 / kelch like family member 12  / complex
 ENSG00000111530 CAND1 / Q86VP6 / cullin associated and neddylation dissociated 1  / complex / reaction






 

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