Homo sapiens Gene: REL
Summary
InnateDB Gene IDBG-53133.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol REL
Gene Name v-rel reticuloendotheliosis viral oncogene homolog (avian)
Synonyms C-Rel
Species Homo sapiens
Ensembl Gene ENSG00000162924
Encoded Proteins
v-rel reticuloendotheliosis viral oncogene homolog (avian)
v-rel reticuloendotheliosis viral oncogene homolog (avian)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
Essential for the development of innate and T-cell-induced colitis through its ability to modulate expression of IL-12/23 family members
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Traf2 mediates proteasome-dependent degradation of Irf5 and Rel as well as regulating macrophage polarization in tumour microenvironment and controlling tumour growth.
Entrez Gene
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]
This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin\'s lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:60881521-60931610
Strand Forward strand
Band p16.1
Transcripts
ENST00000295025 ENSP00000295025
ENST00000394479 ENSP00000377989
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 132 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.
Experimentally validated
Total 132 [view]
Protein-Protein 84 [view]
Protein-DNA 47 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 36 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0001205 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0001816 cytokine production
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007249 I-kappaB kinase/NF-kappaB signaling
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045084 positive regulation of interleukin-12 biosynthetic process
GO:0045087 innate immune response (InnateDB)
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1901215 negative regulation of neuron death
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
TNFalpha pathway
TCR pathway
BCR pathway
IL1 pathway
RANKL pathway
Leptin pathway
REACTOME
Activation of NF-kappaB in B cells pathway
Adaptive Immune System pathway
Immune System pathway
Signaling by the B Cell Receptor (BCR) pathway
Downstream signaling events of B Cell Receptor (BCR) pathway
KEGG
INOH
PID NCI
Atypical NF-kappaB pathway
Regulation of Androgen receptor activity
Cross-References
SwissProt
TrEMBL Q17RU2
UniProt Splice Variant
Entrez Gene 5966
UniGene Hs.631886
RefSeq NM_001291746 XM_005264470 NM_002908 XM_005264472
HUGO HGNC:9954
OMIM 164910
CCDS CCDS74515 CCDS1864
HPRD 01286
IMGT
EMBL AC010733 BC117191 BC143885
GenPept AAI17192 AAI43886
RNA Seq Atlas 5966