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REL

Identity

Other namesc-rel
HGNC (Hugo) REL
Location 2p13-p12
Location_base_pair Starts at 60962256 and ends at 61003682 bp from pter ( according to hg18-Mar_2006)  [Mapping]
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

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.
  

External links

Nomenclature
HGNC (Hugo)REL   9954
Entrez_Gene (NCBI)REL  5966  v-rel reticuloendotheliosis viral oncogene homolog (avian)
Cards
AtlasRELID322
GeneCards (Weizmann)REL
Ensembl (Hinxton)ENSG00000162924 [Gene_View]  REL [Vega]
AceView (NCBI)REL
Genatlas (Paris)REL
euGene (Indiana)5966
SOURCE (Stanford)NM_002908
Genomic and cartography
GoldenPath (UCSC)REL  -     chr2:60962256-61003682 +  2p13-p12   [Description]    (hg18-Mar_2006)
EnsemblREL - 2p13-p12 [CytoView]
Mapping of homologs : NCBIREL [Mapview]
OMIM164910   
Gene and transcription
Gene : Genbank (Entrez)AA279919 AK303926 BC051005 BC117191 BC143885
Reference sequence (RefSeq transcript) :SRSNM_002908
Reference transcript : EntrezNM_002908
RefSeq genomic : SRSAC_000045 AC_000134 NC_000002 NT_022184 NW_001838769 NW_927719
RefSeq genomic : EntrezAC_000045 AC_000134 NC_000002 NT_022184 NW_001838769 NW_927719
Consensus coding sequences : CCDS NCBIREL
Cluster EST : UnigeneHs.631886 [ SRS ] Hs.631886 [ NCBI ]
Alternative Splicing : Fast-db (Paris)5590
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ04864 (SRS) Q04864 (Expasy) Q04864 (Uniprot)
With graphics : InterProQ04864
Splice isoforms : VarSplice FASTAQ04864(VarSplice FASTA)
Domaine pattern : Prosite (SRS)REL_1 (PS01204)    REL_2 (PS50254)   
Domain pattern : Prosite (Expaxy)REL_1 (PS01204)    REL_2 (PS50254)   
Domains : Interpro (SRS)Ig-like_fold    IPT_TIG_rcpt    NF_Rel_dor    RHD   
Domains : Interpro (EBI)Ig-like_fold    IPT_TIG_rcpt    NF_Rel_dor    RHD   
Related proteins : CluSTrQ04864
Domain families : Pfam SRSRHD (PF00554)    TIG (PF01833)   
Domain families : Pfam SangerRHD (PF00554)    TIG (PF01833)   
Domain families : Pfam NCBIpfam00554    pfam01833   
Domain families : Smart EMBLIPT (SM00429)
Blocks (Seattle)Q04864
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01286
Protein Interaction databases
DIP (DOE-UCLA)Q04864
IntAct (EBI)Q04864
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIREL
SNP : GeneSNP UtahREL
SNP : HGBaseREL
Genetic variants : HAPMAPREL
Somatic Mutations in Cancer : COSMICREL 
Mutations and Diseases : HGMDREL
Hereditary diseases : OMIM164910   
Hereditary diseases : GENETests164910   
Diseases : Genetic AssociationREL
General knowledge
Homologs : HomoloGeneREL
Homology/Alignments : Family Browser UCSCREL
Phylogenetic Trees/Animal Genes : TreeFamREL
Chemical/Protein Interactions : CTD5966
Keywords Ontology : AmiGOtranscription factor activity  protein binding  nucleus  regulation of transcription, DNA-dependent  positive regulation of I-kappaB kinase/NF-kappaB cascade  
Keywords Ontology : EGO-EBItranscription factor activity  protein binding  nucleus  regulation of transcription, DNA-dependent  positive regulation of I-kappaB kinase/NF-kappaB cascade  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesREL Related clones (RZPD - Berlin)
Literature
PubMed82 Pubmed reference(s) in Entrez
PubGeneREL

Bibliography

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
 
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
 
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
 
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
 
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
 
Aberrant rel/nfkb genes and activity in human cancer.
Rayet B, Gˆ©linas C
Oncogene. 1999 ; 18 (49) : 6938-6947.
PMID 10602468
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2002Fei Chen

Citation

This paper should be referenced as such :
Chen F . REL. Atlas Genet Cytogenet Oncol Haematol. January 2002 .
URL : http://AtlasGeneticsOncology.org/Genes/RELID322.html

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indexed on : Sat Jun 27 16:37:16 CEST 2009

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