RELA

Identity

Other names	NF-kB3
	NF-kB p65
Hugo	RELA
Location	11q12-q13

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

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.

External links

	Nomenclature
Hugo	RELA
GDB	RELA
Entrez_Gene	RELA  5970  v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian)
	Cards
Atlas	RELAID325
GeneCards	RELA
Ensembl	RELA [Search_View]   ENSG00000173039 [Gene_View]
Genatlas	RELA
GeneLynx	RELA
eGenome	RELA
euGene	5970
	Genomic and cartography
GoldenPath	RELA  -     chr11:65178393-65186951 -  11q13   [Description]    (hg18-Mar_2006)
Ensembl	RELA - 11q13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	RELA
	Gene and transcription
Genbank	BC011603 [ ENTREZ ]
Genbank	BC014095 [ ENTREZ ]
Genbank	BC033522 [ ENTREZ ]
Genbank	BC069248 [ ENTREZ ]
Genbank	BC110830 [ ENTREZ ]
RefSeq	NM_021975 [ SRS ]    NM_021975 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_033903 [ SRS ]    NT_033903 [ ENTREZ ]
RefSeq	NW_925106 [ SRS ]    NW_925106 [ ENTREZ ]
AceView	RELA AceView - NCBI
Unigene	Hs.502875 [ SRS ]    Hs.502875 [ NCBI ]     HS502875 [ spliceNest ]
Fast-db	9906 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q04206 [ SRS]    Q04206 [ EXPASY ]     Q04206 [ INTERPRO ]
Prosite	PS01204 REL_1 [ SRS ]    PS01204 REL_1 [ Expasy ]
Prosite	PS50254 REL_2 [ SRS ]    PS50254 REL_2 [ Expasy ]
Interpro	IPR013783 Ig-like_fold [ SRS ]    IPR013783 Ig-like_fold [ EBI ]
Interpro	IPR002909 IPT_TIG_rcpt [ SRS ]    IPR002909 IPT_TIG_rcpt [ EBI ]
Interpro	IPR000451 NF_Rel_dor [ SRS ]    IPR000451 NF_Rel_dor [ EBI ]
Interpro	IPR011539 RHD [ SRS ]    IPR011539 RHD [ EBI ]
CluSTr	Q04206
Pfam	PF00554 RHD [ SRS ]    PF00554 RHD [ Sanger ]    pfam00554 [ NCBI-CDD ]
Pfam	PF01833 TIG [ SRS ]    PF01833 TIG [ Sanger ]    pfam01833 [ NCBI-CDD ]
Smart	SM00429 IPT [EMBL]
Blocks	Q04206
PDB	1NFI [ SRS ]    1NFI [ PdbSum ],   1NFI [ IMB ]   1NFI [ RSDB ]
PDB	2O61 [ SRS ]    2O61 [ PdbSum ],   2O61 [ IMB ]   2O61 [ RSDB ]
HPRD	01241
	Protein Interaction databases
DIP	Q04206
IntAct	Q04206
	Polymorphism : SNP, mutations, diseases
OMIM	164014    [ map ]
GENECLINICS	164014
SNP	RELA [dbSNP-NCBI]
SNP	NM_021975 [SNP-NCI]
SNP	RELA [GeneSNPs - Utah]  RELA] [HGBASE - SRS]
HAPMAP	RELA [HAPMAP]
COSMIC	RELA [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	RELA
	General knowledge
Family Browser	RELA [UCSC Family Browser]
SOURCE	NM_021975
SMD	Hs.502875
SAGE	Hs.502875
GO	transcription factor activity [Amigo]  transcription factor activity
GO	RNA polymerase II transcription factor activity, enhancer binding [Amigo]  RNA polymerase II transcription factor activity, enhancer binding
GO	signal transducer activity [Amigo]  signal transducer activity
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	transcription factor complex [Amigo]  transcription factor complex
GO	cytoplasm [Amigo]  cytoplasm
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	anti-apoptosis [Amigo]  anti-apoptosis
GO	inflammatory response [Amigo]  inflammatory response
GO	cellular defense response [Amigo]  cellular defense response
GO	response to organic substance [Amigo]  response to organic substance
GO	response to UV-B [Amigo]  response to UV-B
GO	cytokine and chemokine mediated signaling pathway [Amigo]  cytokine and chemokine mediated signaling pathway
GO	protein kinase binding [Amigo]  protein kinase binding
GO	phosphate binding [Amigo]  phosphate binding
GO	identical protein binding [Amigo]  identical protein binding
GO	positive regulation of I-kappaB kinase/NF-kappaB cascade [Amigo]  positive regulation of I-kappaB kinase/NF-kappaB cascade
GO	protein N-terminus binding [Amigo]  protein N-terminus binding
GO	NF-kappaB binding [Amigo]  NF-kappaB binding
GO	activation of NF-kappaB transcription factor [Amigo]  activation of NF-kappaB transcription factor
GO	defense response to virus [Amigo]  defense response to virus
BIOCARTA	Acetylation and Deacetylation of RelA in The Nucleus    [Genes]
BIOCARTA	Influence of Ras and Rho proteins on G1 to S Transition    [Genes]
BIOCARTA	Erythropoietin mediated neuroprotection through NF-kB    [Genes]
BIOCARTA	NF-kB Signaling Pathway    [Genes]
BIOCARTA	NFkB activation by Nontypeable Hemophilus influenzae    [Genes]
BIOCARTA	Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)    [Genes]
KEGG	Apoptosis
KEGG	Toll-like receptor signaling pathway
KEGG	Adipocytokine signaling pathway
KEGG	Epithelial cell signaling in Helicobacter pylori infection
PubGene	RELA
TreeFam	RELA
CTD	5970 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	RELA Related clones (RZPD - Berlin)
	PubMed
PubMed	336 Pubmed reference(s) in LocusLink

Bibliography

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PMID 582293

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PMID 8717528

NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses.

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Annual review of immunology. 1998 ; 16 : 225-260.

PMID 9597130

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

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	01-2002	Fei Chen

Citation

This paper should be referenced as such :

Chen F . RELA. Atlas Genet Cytogenet Oncol Haematol. January 2002 . URL : http://AtlasGeneticsOncology.org/Genes/RELAID325.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:26:44 2008