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RELA (v-rel reticuloendotheliosis viral oncogene homolog A (avian))

Written2002-01Fei Chen
Health Effects Laboratory Division, NIOSH, 1095 Willowdale Rd, Morgantown, WV 26505, USA

(Note : for Links provided by Atlas : click)

Identity

Alias_namesNFKB3
nuclear factor of kappa light polypeptide gene enhancer in B-cells 3
v-rel avian reticuloendotheliosis viral oncogene homolog A
Alias_symbol (synonym)p65
Other aliasNF-kB3
NF-kB p65
HGNC (Hugo) RELA
LocusID (NCBI) 5970
Atlas_Id 325
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 65653596 and ends at 65662972 bp from pter ( according to hg19-Feb_2009)  [Mapping RELA.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
ACTB (7p22.1) / RELA (11q13.1)C11orf95 (11q13.1) / RELA (11q13.1)LGALS4 (19q13.2) / RELA (11q13.1)
RELA (11q13.1) / C16orf45 (16p13.11)ZMYND8 (20q13.12) / RELA (11q13.1)
Note see also, in the Deep Insight section: Upstream Signal Transduction of NF-kB Activation

DNA/RNA

Description The gene encoding human RelA has 10 exons spanning 8.1 kb. The shorter variants of RelA (p65d) can be generated by alternative splicing of intron 1, 6, or 7. The p65d1 lacks codons for amino acids 222 to 231 and p65d2 lacks codons for amino acids 13 to 25 of the conserved Rel homology domain. An additional alternative splicing form of p65, p65d3 has been identified in a non-small-cell lung carcinoma cell line that lacks codons for amino acids 187 to 293 of the Rel homology domain.

Protein

Description The relA gene encodes a protein composed 551 amino acids with an approximately molecular weight of 65 kDa. The N-terminal region of RelA contains a Rel homology domain (RHD) followed by a nuclear localization signal. The C-terminal region of RelA contains a putative leucine zipper domain and a transactivation domain that is important for the NF-kB-mediated gene transactivation. A number of protein kinases can phosphorylate RelA and consequently potentiate the transcriptional activity of NF-kB complexes. These kinases include IKKb, PKA, and possibly GSK3 and MAP kinase p38. The phosphorylation of the transactivation domain of RelA was considered as an important event for the recruitment and/or interaction with co-factors and general transcriptional machinery subunits such as p300 and TFIIB.
Expression wide.
Localisation cytosol, nuclei after activation.
Function regulation of the genes involved in cell-to-cell interaction, intercellular communication, cell recruitment or transmigration, amplification or spreading of primary pathogenic signals, cell apoptosis, and initiation or acceleration of tumorigenesis. The p50/RelA complex is the most abundant NF-kB complex in all type tissues or cells. Interaction with: members of IkB family and Rel family; GR; HDAC3; CREB; p300; Sp1, Egr1; AES; TFIIB.

Implicated in

Note
  
Entity cancer, autoimmune arthritis, glomerulonephritis, asthma, inflammatory bowel disease, septic shock, lung fibrosis, HTLV-1 infection, and AIDS.
Oncogenesis Chromosomal rearrangement or point mutation of relA gene has been implicated infrequently in human lymphoid tumors. A t(11;14)(q14;q32?) chromosomal translocation was described in 4 cases of lymphoproliferative disorders (LPD), which possibly involved p65 gene rearrangement. Gene amplification or increased expression of relA has also been noted in some cases of squamous carcinomas of head and neck, and in adenocarcinomas of breast and stomach.
  

Bibliography

The NF-kappa B and I kappa B proteins: new discoveries and insights.
Baldwin AS Jr
Annual review of immunology. 1996 ; 14 : 649-683.
PMID 8717528
 
Genomic organization of the gene encoding the p65 subunit of NF-kappa B: multiple variants of the p65 protein may be generated by alternative splicing.
Deloukas P, van Loon AP
Human molecular genetics. 1993 ; 2 (11) : 1895-1900.
PMID 8281153
 
NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses.
Ghosh S, May MJ, Kopp EB
Annual review of immunology. 1998 ; 16 : 225-260.
PMID 9597130
 
Aberrant rel/nfkb genes and activity in human cancer.
Rayet B, Gélinas C
Oncogene. 1999 ; 18 (49) : 6938-6947.
PMID 10602468
 
A new characteristic karyotypic anomaly in lymphoproliferative disorders.
Van Den Berghe H, Parloir C, David G, Michaux JL, Sokal G
Cancer. 1979 ; 44 (1) : 188-195.
PMID 582293
 
Phosphorylation of NF-kappa B p65 by PKA stimulates transcriptional activity by promoting a novel bivalent interaction with the coactivator CBP/p300.
Zhong H, Voll RE, Ghosh S
Molecular cell. 1998 ; 1 (5) : 661-671.
PMID 9660950
 

Citation

This paper should be referenced as such :
Chen, F
RELA (v-rel reticuloendotheliosis viral oncogene homolog A)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):100-101.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RELAID325.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Classical Hodgkin lymphoma


External links

Nomenclature
HGNC (Hugo)RELA   9955
Cards
AtlasRELAID325
Entrez_Gene (NCBI)RELA  5970  RELA proto-oncogene, NF-kB subunit
AliasesNFKB3; p65
GeneCards (Weizmann)RELA
Ensembl hg19 (Hinxton)ENSG00000173039 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173039 [Gene_View]  chr11:65653596-65662972 [Contig_View]  RELA [Vega]
ICGC DataPortalENSG00000173039
TCGA cBioPortalRELA
AceView (NCBI)RELA
Genatlas (Paris)RELA
WikiGenes5970
SOURCE (Princeton)RELA
Genetics Home Reference (NIH)RELA
Genomic and cartography
GoldenPath hg38 (UCSC)RELA  -     chr11:65653596-65662972 -  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RELA  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblRELA - 11q13.1 [CytoView hg19]  RELA - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBIRELA [Mapview hg19]  RELA [Mapview hg38]
OMIM164014   
Gene and transcription
Genbank (Entrez)AK303262 AK308020 AK308478 BC011603 BC014095
RefSeq transcript (Entrez)NM_001145138 NM_001243984 NM_001243985 NM_021975
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RELA
Cluster EST : UnigeneHs.502875 [ NCBI ]
CGAP (NCI)Hs.502875
Alternative Splicing GalleryENSG00000173039
Gene ExpressionRELA [ NCBI-GEO ]   RELA [ EBI - ARRAY_EXPRESS ]   RELA [ SEEK ]   RELA [ MEM ]
Gene Expression Viewer (FireBrowse)RELA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5970
GTEX Portal (Tissue expression)RELA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04206   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04206  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04206
Splice isoforms : SwissVarQ04206
PhosPhoSitePlusQ04206
Domaine pattern : Prosite (Expaxy)REL_1 (PS01204)    REL_2 (PS50254)   
Domains : Interpro (EBI)Ig-like_fold    Ig_E-set    IPT    IPT_NFkappaB    NFkB/Dor    p53-like_TF_DNA-bd    RelA    RHD_CS    RHD_dimer    RHD_DNA_bind_dom   
Domain families : Pfam (Sanger)RHD_dimer (PF16179)    RHD_DNA_bind (PF00554)   
Domain families : Pfam (NCBI)pfam16179    pfam00554   
Domain families : Smart (EMBL)IPT (SM00429)  
Conserved Domain (NCBI)RELA
DMDM Disease mutations5970
Blocks (Seattle)RELA
PDB (SRS)1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
PDB (PDBSum)1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
PDB (IMB)1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
PDB (RSDB)1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
Structural Biology KnowledgeBase1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
SCOP (Structural Classification of Proteins)1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
CATH (Classification of proteins structures)1NFI    2LSP    2N22    2O61    3GUT    3QXY    3RC0    4KV1    4KV4   
SuperfamilyQ04206
Human Protein AtlasENSG00000173039
Peptide AtlasQ04206
HPRD01241
IPIIPI00386448   IPI00219084   IPI00479470   IPI00884950   IPI00984552   IPI00883897   IPI00977976   IPI00981642   IPI00976323   IPI00978687   IPI00985132   IPI00983349   IPI00976808   IPI00981038   IPI00977443   IPI00979203   IPI00975646   IPI00982760   
Protein Interaction databases
DIP (DOE-UCLA)Q04206
IntAct (EBI)Q04206
FunCoupENSG00000173039
BioGRIDRELA
STRING (EMBL)RELA
ZODIACRELA
Ontologies - Pathways
QuickGOQ04206
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  liver development  hair follicle development  stimulatory C-type lectin receptor signaling pathway  DNA binding  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  cytosol  cytosol  acetaldehyde metabolic process  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  inflammatory response  cellular defense response  aging  transcription factor binding  positive regulation of cell proliferation  animal organ morphogenesis  response to organic substance  response to UV-B  positive regulation of Schwann cell differentiation  cytokine-mediated signaling pathway  protein kinase binding  membrane protein intracellular domain proteolysis  chromatin DNA binding  ubiquitin protein ligase binding  positive regulation of chondrocyte differentiation  protein complex binding  positive regulation of type I interferon production  response to muramyl dipeptide  response to progesterone  response to insulin  tumor necrosis factor-mediated signaling pathway  I-kappaB/NF-kappaB complex  response to cobalamin  activating transcription factor binding  NF-kappaB p50/p65 complex  cellular response to hepatocyte growth factor stimulus  response to muscle stretch  Fc-epsilon receptor signaling pathway  negative regulation of protein catabolic process  phosphate ion binding  response to drug  identical protein binding  identical protein binding  protein homodimerization activity  actinin binding  histone deacetylase binding  negative regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  response to amino acid  response to morphine  transcription regulatory region DNA binding  positive regulation of interleukin-12 biosynthetic process  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of insulin receptor signaling pathway  protein heterodimerization activity  protein N-terminus binding  regulation of inflammatory response  T cell receptor signaling pathway  positive regulation of T cell receptor signaling pathway  NF-kappaB binding  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  response to cAMP  defense response to virus  cellular response to hydrogen peroxide  nucleotide-binding oligomerization domain containing 2 signaling pathway  repressing transcription factor binding  response to interleukin-1  cellular response to lipopolysaccharide  cellular response to nicotine  cellular response to interleukin-1  cellular response to interleukin-6  cellular response to tumor necrosis factor  cellular response to tumor necrosis factor  cellular response to peptide hormone stimulus  ankyrin repeat binding  regulation of NIK/NF-kappaB signaling  negative regulation of NIK/NF-kappaB signaling  positive regulation of NIK/NF-kappaB signaling  positive regulation of NIK/NF-kappaB signaling  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  positive regulation of miRNA metabolic process  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific  core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  liver development  hair follicle development  stimulatory C-type lectin receptor signaling pathway  DNA binding  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  cytosol  cytosol  acetaldehyde metabolic process  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  inflammatory response  cellular defense response  aging  transcription factor binding  positive regulation of cell proliferation  animal organ morphogenesis  response to organic substance  response to UV-B  positive regulation of Schwann cell differentiation  cytokine-mediated signaling pathway  protein kinase binding  membrane protein intracellular domain proteolysis  chromatin DNA binding  ubiquitin protein ligase binding  positive regulation of chondrocyte differentiation  protein complex binding  positive regulation of type I interferon production  response to muramyl dipeptide  response to progesterone  response to insulin  tumor necrosis factor-mediated signaling pathway  I-kappaB/NF-kappaB complex  response to cobalamin  activating transcription factor binding  NF-kappaB p50/p65 complex  cellular response to hepatocyte growth factor stimulus  response to muscle stretch  Fc-epsilon receptor signaling pathway  negative regulation of protein catabolic process  phosphate ion binding  response to drug  identical protein binding  identical protein binding  protein homodimerization activity  actinin binding  histone deacetylase binding  negative regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  response to amino acid  response to morphine  transcription regulatory region DNA binding  positive regulation of interleukin-12 biosynthetic process  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of insulin receptor signaling pathway  protein heterodimerization activity  protein N-terminus binding  regulation of inflammatory response  T cell receptor signaling pathway  positive regulation of T cell receptor signaling pathway  NF-kappaB binding  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  response to cAMP  defense response to virus  cellular response to hydrogen peroxide  nucleotide-binding oligomerization domain containing 2 signaling pathway  repressing transcription factor binding  response to interleukin-1  cellular response to lipopolysaccharide  cellular response to nicotine  cellular response to interleukin-1  cellular response to interleukin-6  cellular response to tumor necrosis factor  cellular response to tumor necrosis factor  cellular response to peptide hormone stimulus  ankyrin repeat binding  regulation of NIK/NF-kappaB signaling  negative regulation of NIK/NF-kappaB signaling  positive regulation of NIK/NF-kappaB signaling  positive regulation of NIK/NF-kappaB signaling  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  positive regulation of miRNA metabolic process  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
REACTOMEQ04206 [protein]
REACTOME PathwaysR-HSA-933542 [pathway]   
NDEx NetworkRELA
Atlas of Cancer Signalling NetworkRELA
Wikipedia pathwaysRELA
Orthology - Evolution
OrthoDB5970
GeneTree (enSembl)ENSG00000173039
Phylogenetic Trees/Animal Genes : TreeFamRELA
HOVERGENQ04206
HOGENOMQ04206
Homologs : HomoloGeneRELA
Homology/Alignments : Family Browser (UCSC)RELA
Gene fusions - Rearrangements
Fusion : MitelmanC11orf95/RELA [11q13.1/11q13.1]  [t(11;11)(q13;q13)]  
Fusion : MitelmanZMYND8/RELA [20q13.12/11q13.1]  [t(11;20)(q13;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRELA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RELA
dbVarRELA
ClinVarRELA
1000_GenomesRELA 
Exome Variant ServerRELA
ExAC (Exome Aggregation Consortium)RELA (select the gene name)
Genetic variants : HAPMAP5970
Genomic Variants (DGV)RELA [DGVbeta]
DECIPHERRELA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRELA 
Mutations
ICGC Data PortalRELA 
TCGA Data PortalRELA 
Broad Tumor PortalRELA
OASIS PortalRELA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRELA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRELA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RELA
DgiDB (Drug Gene Interaction Database)RELA
DoCM (Curated mutations)RELA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RELA (select a term)
intoGenRELA
NCG5 (London)RELA
Cancer3DRELA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164014   
Orphanet19666   
MedgenRELA
Genetic Testing Registry RELA
NextProtQ04206 [Medical]
TSGene5970
GENETestsRELA
Target ValidationRELA
Huge Navigator RELA [HugePedia]
snp3D : Map Gene to Disease5970
BioCentury BCIQRELA
ClinGenRELA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5970
Chemical/Pharm GKB GenePA296
Clinical trialRELA
Miscellaneous
canSAR (ICR)RELA (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRELA
EVEXRELA
GoPubMedRELA
iHOPRELA
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 22 09:21:48 CEST 2017

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