Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

REL

Identity

Other namesc-rel
HGNC REL
Location 2p13-p12
Location_base_pair Starts at 60962256 and ends at 61003682 bp from pter ( according to hg18-Mar_2006).
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
HGNCREL   9954
Entrez_GeneREL  5966  v-rel reticuloendotheliosis viral oncogene homolog (avian)
Cards
AtlasRELID322
GeneCardsREL
EnsemblENSG00000162924 [Gene_View]  REL [Vega]
GenatlasREL
Genomic and cartography
GoldenPathREL  -     chr2:60962256-61003682 +  2p13-p12   [Description]    (hg18-Mar_2006)
EnsemblREL - 2p13-p12 [CytoView]
NCBIMapview
OMIM164910 Disease map [OMIM]
HomoloGeneREL
Gene and transcription
GenbankAA279919 [ ENTREZ ]
GenbankBC051005 [ ENTREZ ]
GenbankBC117191 [ ENTREZ ]
GenbankBX111941 [ ENTREZ ]
GenbankCN414487 [ ENTREZ ]
RefSeqNM_002908 [ SRS ]    NM_002908 [ ENTREZ ]
RefSeqAC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeqAC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeqNC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeqNT_022184 [ SRS ]    NT_022184 [ ENTREZ ]
RefSeqNW_001838769 [ SRS ]    NW_001838769 [ ENTREZ ]
RefSeqNW_927719 [ SRS ]    NW_927719 [ ENTREZ ]
CCDSREL CCDS - NCBI
AceViewREL AceView - NCBI
UnigeneHs.631886 [ SRS ]    Hs.631886 [ NCBI ]
Fast-db5590 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ04864 [ SRS]    Q04864 [ EXPASY ]     Q04864 [ INTERPRO ]     Q04864 [ UNIPROT ] Q04864 [ VarSplice FASTA ]
PrositePS01204 REL_1 [ SRS ]    PS01204 REL_1 [ Expasy ]
PrositePS50254 REL_2 [ SRS ]    PS50254 REL_2 [ Expasy ]
InterproIPR013783 Ig-like_fold [ SRS ]    IPR013783 Ig-like_fold [ EBI ]
InterproIPR002909 IPT_TIG_rcpt [ SRS ]    IPR002909 IPT_TIG_rcpt [ EBI ]
InterproIPR000451 NF_Rel_dor [ SRS ]    IPR000451 NF_Rel_dor [ EBI ]
InterproIPR011539 RHD [ SRS ]    IPR011539 RHD [ EBI ]
CluSTrQ04864
PfamPF00554 RHD [ SRS ]    PF00554 RHD [ Sanger ]    pfam00554 [ NCBI-CDD ]
PfamPF01833 TIG [ SRS ]    PF01833 TIG [ Sanger ]    pfam01833 [ NCBI-CDD ]
SmartSM00429 IPT [EMBL]
BlocksQ04864
HPRD01286
Protein Interaction databases
DIPQ04864
IntActQ04864
Polymorphism : SNP, mutations, diseases
OMIM164910    [ map ]   
GENETests164910
SNPREL [dbSNP-NCBI]  
SNPNM_002908 [SNP-NCI]  
SNPREL [GeneSNPs - Utah]  REL] [HGBASE - SRS]
HAPMAPREL [HAPMAP]  
COSMICREL [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDREL
Genetic AssociationREL
CDC HuGEREL
General knowledge
Family BrowserREL [UCSC Family Browser]
SOURCENM_002908
SMDHs.631886
SAGEHs.631886
GOtranscription factor activity [Amigo]  transcription factor activity
GOtranscription factor activity [Amigo]  transcription factor activity
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOpositive regulation of I-kappaB kinase/NF-kappaB cascade [Amigo]  positive regulation of I-kappaB kinase/NF-kappaB cascade
PubGeneREL
TreeFamREL
CTD5966 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeREL Related clones (RZPD - Berlin)
PubMed
PubMed72 Pubmed reference(s) in Entrez

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

Search in all EBI   NCBI

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 6 17:59:06 2008


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.