REL v-rel reticuloendotheliosis viral oncogene homolog (avian) [Homo sapiens] - Gene

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Summary

Official Symbol: RELprovided by HGNC
Official Full Name: v-rel reticuloendotheliosis viral oncogene homolog (avian)provided by HGNC
Primary source: HGNC:9954
See related: Ensembl:ENSG00000162924; HPRD:01286; MIM:164910; Vega:OTTHUMG00000129418
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C-Rel
Summary: The REL gene encodes c-Rel, a transcription factor that is a member of the Rel/NFKB family, which also includes RELA (MIM 164014), RELB (604758), NFKB1 (MIM 164011), and NFKB2 (MIM 164012). These proteins are related through a highly conserved N-terminal region termed the 'Rel domain,' which is responsible for DNA binding, dimerization, nuclear localization, and binding to the NFKB inhibitor (MIM 164008) (Belguise and Sonenshein, 2007 [PubMed 18037997]).[supplied by OMIM, May 2008]

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Genomic context

Location :: 2p13-p12

Sequence :: Chromosome: 2; NC_000002.11 (61108752..61150178)

See REL in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Levels of c-Rel directly modulated expression of caspase-4 as well as other endoplasmic reticulum stress genes.
Title: c-Rel deficiency increases caspase-4 expression and leads to ER stress and necrosis in EBV-transformed cells.
By a novel, reversible dynamic mechanism TNF-alpha-induced c-REL/DeltaNp63alpha interactions inactivate tumor suppressor TAp73 function, promoting TNF-alpha resistance & cell survival in cancers with mtTP53.
Title: TNF-α promotes c-REL/ΔNp63α interaction and TAp73 dissociation from key genes that mediate growth arrest and apoptosis in head and neck cancer.
TAK1-c-Rel and IRF4 pathways play distinct roles in the maintenance of IL-9-producing Th17 phenotype of HTLV-1-transformed cells
Title: Distinct roles of transforming growth factor-beta-activated kinase 1 (TAK1)-c-Rel and interferon regulatory factor 4 (IRF4) pathways in human T cell lymphotropic virus 1-transformed T helper 17 cells producing interleukin-9.
Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9.
Title: Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9.
Data show that Foxp3 directly or as part of a multimeric complex engages with the NF-kappaB component c-Rel.
Title: Foxp3 interacts with c-Rel to mediate NF-κB repression.
IL-23 induction by beta-glucans is due to activation of c-Rel associated with Ser-10-histone H3 phosphorylation in the il23a promoter mediated by MAPK and SAPK or PKA, and inhibition of il12a transcription
Title: Notch- and transducin-like enhancer of split (TLE)-dependent histone deacetylation explain interleukin 12 (IL-12) p70 inhibition by zymosan.
Thus, dectin-1 and dectin-2 control adaptive T(H)-17 immunity to fungi via Malt1-dependent activation of c-Rel.
Title: Selective C-Rel activation via Malt1 controls anti-fungal T(H)-17 immunity by dectin-1 and dectin-2.
the described effect of REL rs13031237 on the predisposition for rheumatoid arthritis was re-evaluated in a large case-control data set of 23 711 individuals and showed a modest increase in rheumatoid arthritis risk.
Title: Analysis of the REL polymorphism rs13031237 in autoimmune diseases.
Three new susceptibility loci at 2p16.1 (rs1432295, REL, 8q24.21 (rs2019960, PVT1 and 10p14 (rs501764, GATA3).
Title: A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).

Submit: New GeneRIF Correction See all (44)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Multiple common variants for celiac disease influencing immune gene expression.

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates c-rel and RelA transcription factor binding to the CD28-responsive element in the IL-8 promoter, leading to super-induction of IL-8	PubMed
	tat	HIV-1 Tat interacts with the cooperative rel/AP1 complex, downregulating its transactivation activity and leading to a decrease in IL-2 gene transcription	PubMed
	tat	The c-rel protein is a strong activator of HIV-1 gene expression suggesting a possible interaction with HIV-1 Tat, however results from co-expression experiments did not detect synergy with Tat activation	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
Q04864	Calmodulin 1	CALM1	HPRD	PubMed
Q04864	P24864	CCNE1	HPRD	PubMed
Q04864	P32519	ELF1	HPRD	PubMed
Q04864	Q00403	GTF2B	HPRD	PubMed
Q04864	P11142	HSPA8	HPRD	PubMed
Q04864	P41279	MAP3K8	HPRD	PubMed
Q04864	P45983	MAPK8	HPRD	PubMed
Q04864	P19838	NFKB1	HPRD	PubMed
Q04864	Q00653	NFKB2	HPRD	PubMed
Q04864	P25963	NFKBIA	HPRD	PubMed
Q04864	Q15653	NFKBIB	HPRD	PubMed
Q04864	O00221	NFKBIE	HPRD	PubMed
Q04864	O15226	NKRF	HPRD	PubMed
Q04864	P46531	NOTCH1	HPRD	PubMed
Q04864	P60510	PPP4C	HPRD	PubMed
Q04864	Q04864	REL	HPRD	PubMed
Q04864	Q04206	RELA	HPRD	PubMed
Q04864	P08047	SP1	HPRD	PubMed
Q04864	P20226	TBP	HPRD	PubMed
Q04864	TNFAIP3 interacting protein 2	TNIP2	HPRD	PubMed
BioGRID:111898	BioGRID:107452	CDK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111898	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111898	BioGRID:111909	DPF2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:108312	ELF1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111898	BioGRID:119170	FOXP3	BioGRID	PubMed	Affinity Capture-Luminescence
BioGRID:111898	BioGRID:109214	GTF2B	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:107719	MAP3K8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111898	BioGRID:111585	MAPK8	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:111898	BioGRID:126455	MTPN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111898	BioGRID:110857	NFKB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111898	BioGRID:110858	NFKB2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:111898	BioGRID:110859	NFKBIA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111898	BioGRID:110860	NFKBIB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111898	BioGRID:110861	NFKBIE	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111898	BioGRID:121002	NKRF	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:201751	Nfkb1	BioGRID	PubMed	Phenotypic Enhancement
BioGRID:111898	BioGRID:116119	PAPOLA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111898	BioGRID:111523	PPP4C	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:111898	BioGRID:111902	RELA	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:111898	BioGRID:112550	SP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:112600	SRF	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:118878	TBK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111898	BioGRID:112771	TBP	BioGRID	PubMed	Reconstituted Complex
BioGRID:111898	BioGRID:122573	TNIP2	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cytokine production	IEA Inferred from Electronic Annotation more info
positive regulation of I-kappaB kinase/NF-kappaB cascade	IEP Inferred from Expression Pattern more info	PubMed
positive regulation of interleukin-12 biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: proto-oncogene c-Rel

Names: proto-oncogene c-Rel; C-Rel proto-oncogene protein; oncogene REL, avian reticuloendotheliosis; v-rel avian reticuloendotheliosis viral oncogene homolog

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002908.2 → NP_002899.1 proto-oncogene c-Rel

Status: VALIDATED

Source sequence(s)

AA279919, BX111941, CN414487, X75042

Consensus CDS

CCDS1864.1

UniProtKB/Swiss-Prot

Q04864

Related

ENSP00000295025, OTTHUMP00000159786, ENST00000295025, OTTHUMT00000251576

Conserved Domains (2) summary

cd01177
Location:186 – 281
Blast Score: 397

IPT_NFkappaB; IPT domain of the transcription factor NFkappaB and related transcription factors. NFkappaB is considered a central regulator of stress responses, activated by different stressful conditions, including physical stress, oxidative stress, and exposure to ...

cd07933
Location:8 – 179
Blast Score: 909

RHD-n_c-Rel; N-terminal sub-domain of the Rel homology domain (RHD) of c-Rel

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

61108752..61150178

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

60850654..60892025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC010733.8 (35070..76496)	None
genomic	CH471053.2	EAX00028.1
genomic	DQ314888.1	ABC40747.1
genomic	HI573896.1	CBX47437.1
genomic	L41414.1	None
genomic	M11595.1	AAA52073.1
mRNA	AA279919.1	None
mRNA	AK303926.1	BAG64854.1
mRNA	BC051005.1	None
mRNA	BC117191.1	AAI17192.1
mRNA	BC143885.1	AAI43886.1
mRNA	BX111941.1	None
mRNA	CN414487.1	None
mRNA	X75042.1	CAA52954.1