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REL v-rel reticuloendotheliosis viral oncogene homolog (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 (NCBI)c-rel
HGNC (Hugo) REL
HGNC Alias symbI-Rel
c-Rel
HIVEN86A
HGNC Previous namev-rel avian reticuloendotheliosis viral oncogene homolog
LocusID (NCBI) 5966
Atlas_Id 322
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 60881574 and ends at 60931612 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping REL.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
JCHAIN (4q13.3)::REL (2p16.1)REL (2p16.1)::MAN1A2 (1p12)REL (2p16.1)::MVP (16p11.2)
Note see also, in the Deep Insight section: Upstream Signal Transduction of NF-kB Activation

DNA/RNA

Description The gene encoding human Rel has 11 exons spanning ~ 40 kb. The promoter region of rel gene contains five NF-kB binding sites and six Sp1 binding sites, and a number of AP2 sites. Thus, the expression of rel gene might be through autoregulation along with certain stress signals.

Protein

Description The human rel gene encodes a protein composed 619 amino acids with an approximately molecular weight of 68 - 70 kDa. The Rel protein is structurally similar with other Rel family members containing RHD, NLS and TA domain. However, analysis of X-ray crystal structure revealed that the Rel homodimer preferentially binds to the CD28RE with higher affinity as compared to other canonical kB sequences.
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. Interaction with: members of IkB family and Rel family; MKK4; c-Fos; c-Jun; UBE2; PPP4C.

Implicated in

Note
  
Entity cancer, autoimmune arthritis, glomerulonephritis, asthma, inflammatory bowel disease, septic shock, lung fibrosis, HTLV-1 infection, and AIDS.
Note Only one report suggested the rearrangement of rel gene in certain type of lymphomas. This rearrangement of rel gene resulted in the deletion of the C-terminal domain of Rel and the fusion of the RHD of Rel with Nrg.
Oncogenesis Amplification of rel locus was frequently noted in a number of lymphomas.
  

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
 
Alterations at the rel locus in human lymphoma.
Lu D, Thompson JD, Gorski GK, Rice NR, Mayer MG, Yunis JJ
Oncogene. 1991 ; 6 (7) : 1235-1241.
PMID 1650444
 
Aberrant rel/nfkb genes and activity in human cancer.
Rayet B, Gélinas C
Oncogene. 1999 ; 18 (49) : 6938-6947.
PMID 10602468
 
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
REL (v-rel reticuloendotheliosis viral oncogene homolog (avian))
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):104-105.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 8 ]
  Germinal center B-cell-like diffuse Large B-cell Lymphoma (GCB) DLBCL
Hodgkin lymphoma
Mediastinal Gray Zone Lymphoma
Primary Cutaneous B-Cell Lymphomas
Primary mediastinal B-cell lymphoma (PMBL)
t(2;14)(p13-16;q32) IGH::BCL11A
t(2;22)(p13;q11) REL::IGL
t(2;22)(p16;q11) IGL::REL


External links

 

Nomenclature
HGNC (Hugo)REL   9954
Cards
AtlasRELID322
Entrez_Gene (NCBI)REL    REL proto-oncogene, NF-kB subunit
AliasesC-Rel; HIVEN86A
GeneCards (Weizmann)REL
Ensembl hg19 (Hinxton)ENSG00000162924 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162924 [Gene_View]  ENSG00000162924 [Sequence]  chr2:60881574-60931612 [Contig_View]  REL [Vega]
ICGC DataPortalENSG00000162924
TCGA cBioPortalREL
AceView (NCBI)REL
Genatlas (Paris)REL
SOURCE (Princeton)REL
Genetics Home Reference (NIH)REL
Genomic and cartography
GoldenPath hg38 (UCSC)REL  -     chr2:60881574-60931612 +  2p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)REL  -     2p16.1   [Description]    (hg19-Feb_2009)
GoldenPathREL - 2p16.1 [CytoView hg19]  REL - 2p16.1 [CytoView hg38]
ImmunoBaseENSG00000162924
Genome Data Viewer NCBIREL [Mapview hg19]  
OMIM164910   
Gene and transcription
Genbank (Entrez)AA279919 AK123369 AK303926 BC051005 BC117191
RefSeq transcript (Entrez)NM_001291746 NM_002908
Consensus coding sequences : CCDS (NCBI)REL
Gene ExpressionREL [ NCBI-GEO ]   REL [ EBI - ARRAY_EXPRESS ]   REL [ SEEK ]   REL [ MEM ]
Gene Expression Viewer (FireBrowse)REL [ Firebrowse - Broad ]
GenevisibleExpression of REL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5966
GTEX Portal (Tissue expression)REL
Human Protein AtlasENSG00000162924-REL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04864   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04864  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04864
PhosPhoSitePlusQ04864
Domaine pattern : Prosite (Expaxy)REL_1 (PS01204)    REL_2 (PS50254)   
Domains : Interpro (EBI)c-Rel    Ig-like_fold    Ig_E-set    IPT_dom    IPT_NFkappaB    NFkB/Dor    p53-like_TF_DNA-bd    RHD-n_c-Rel    RHD_CS    RHD_dimer    RHD_DNA_bind_dom    RHD_DNA_bind_dom_sf   
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)REL
SuperfamilyQ04864
AlphaFold pdb e-kbQ04864   
Human Protein Atlas [tissue]ENSG00000162924-REL [tissue]
HPRD01286
Protein Interaction databases
DIP (DOE-UCLA)Q04864
IntAct (EBI)Q04864
Complex Portal (EBI)Q04864 CPX-5830 NF-kappaB DNA-binding transcription factor complex, p52/c-Rel
Q04864 CPX-5834 NF-kappaB DNA-binding transcription factor complex, p65/c-Rel
Q04864 CPX-5836 NF-kappaB DNA-binding transcription factor complex complex, c-Rel/c-Rel
Q04864 CPX-5836 NF-kappaB DNA-binding transcription factor complex complex, c-Rel/c-Rel
Q04864 CPX-5832 NF-kappaB DNA-binding transcription factor complex, p50/c-Rel
BioGRIDREL
STRING (EMBL)REL
ZODIACREL
Ontologies - Pathways
QuickGOQ04864
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription regulator complex  cytosol  regulation of transcription by RNA polymerase II  inflammatory response  I-kappaB kinase/NF-kappaB signaling  negative regulation of gene expression  negative regulation of interferon-beta production  cellular response to stress  response to cytokine  NIK/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  positive regulation of transcription by RNA polymerase II  negative regulation of neuron death  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  transcription regulator complex  cytosol  regulation of transcription by RNA polymerase II  inflammatory response  I-kappaB kinase/NF-kappaB signaling  negative regulation of gene expression  negative regulation of interferon-beta production  cellular response to stress  response to cytokine  NIK/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  positive regulation of transcription by RNA polymerase II  negative regulation of neuron death  
Pathways : KEGGRas signaling pathway    Transcriptional misregulation in cancer    Viral carcinogenesis   
REACTOMEQ04864 [protein]
REACTOME PathwaysR-HSA-1169091 [pathway]   
NDEx NetworkREL
Atlas of Cancer Signalling NetworkREL
Wikipedia pathwaysREL
Orthology - Evolution
OrthoDB5966
GeneTree (enSembl)ENSG00000162924
Phylogenetic Trees/Animal Genes : TreeFamREL
Homologs : HomoloGeneREL
Homology/Alignments : Family Browser (UCSC)REL
Gene fusions - Rearrangements
Fusion : MitelmanIGL::REL [22q11.22/2p16.1]  
Fusion : MitelmanREL::MAN1A2 [2p16.1/1p12]  
Fusion : MitelmanREL::MVP [2p16.1/16p11.2]  
Fusion : QuiverREL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerREL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)REL
dbVarREL
ClinVarREL
MonarchREL
1000_GenomesREL 
Exome Variant ServerREL
GNOMAD BrowserENSG00000162924
Varsome BrowserREL
ACMGREL variants
VarityQ04864
Genomic Variants (DGV)REL [DGVbeta]
DECIPHERREL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisREL 
Mutations
ICGC Data PortalREL 
TCGA Data PortalREL 
Broad Tumor PortalREL
OASIS PortalREL [ Somatic mutations - Copy number]
Cancer Gene: CensusREL 
Somatic Mutations in Cancer : COSMICREL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DREL
Mutations and Diseases : HGMDREL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaREL
DgiDB (Drug Gene Interaction Database)REL
DoCM (Curated mutations)REL
CIViC (Clinical Interpretations of Variants in Cancer)REL
OncoKBREL
NCG (London)REL
Cancer3DREL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164910   
Orphanet
DisGeNETREL
MedgenREL
Genetic Testing Registry REL
NextProtQ04864 [Medical]
GENETestsREL
Target ValidationREL
Huge Navigator REL [HugePedia]
ClinGenREL
Clinical trials, drugs, therapy
MyCancerGenomeREL
Protein Interactions : CTDREL
Pharm GKB GenePA34321
Pharm GKB PathwaysPA165985892   
PharosQ04864
Clinical trialREL
Miscellaneous
canSAR (ICR)REL
HarmonizomeREL
DataMed IndexREL
Probes
Litterature
PubMed190 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXREL
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:26:53 CEST 2021

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