REL
Proto-oncogene c-Rel
Also known as: c-Rel, HIVEN86A, I-Rel, REL_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q04864
- Gene
- REL
- Ensembl
- ENSG00000162924
- Chromosome
- 2
- Canonical length
- 619 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, RAS pathway related proteins, Transcription factors
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
619 residues, UniProt reviewed canonical sequence.
>Q04864|REL
1 MASGAYNPYI EIIEQPRQRG MRFRYKCEGR SAGSIPGEHS TDNNRTYPSI QIMNYYGKGK
61 VRITLVTKND PYKPHPHDLV GKDCRDGYYE AEFGQERRPL FFQNLGIRCV KKKEVKEAII
121 TRIKAGINPF NVPEKQLNDI EDCDLNVVRL CFQVFLPDEH GNLTTALPPV VSNPIYDNRA
181 PNTAELRICR VNKNCGSVRG GDEIFLLCDK VQKDDIEVRF VLNDWEAKGI FSQADVHRQV
241 AIVFKTPPYC KAITEPVTVK MQLRRPSDQE VSESMDFRYL PDEKDTYGNK AKKQKTTLLF
301 QKLCQDHVET GFRHVDQDGL ELLTSGDPPT LASQSAGITV NFPERPRPGL LGSIGEGRYF
361 KKEPNLFSHD AVVREMPTGV SSQAESYYPS PGPISSGLSH HASMAPLPSS SWSSVAHPTP
421 RSGNTNPLSS FSTRTLPSNS QGIPPFLRIP VGNDLNASNA CIYNNADDIV GMEASSMPSA
481 DLYGISDPNM LSNCSVNMMT TSSDSMGETD NPRLLSMNLE NPSCNSVLDP RDLRQLHQMS
541 SSSMSAGANS NTTVFVSQSD AFEGSDFSCA DNSMINESGP SNSTNPNSHG FVQDSQYSGI
601 GSMQNEQLSD SFPYEFFQVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against REL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 35 nTPM
- tonsil: 15 nTPM
- lymph node: 15 nTPM
- appendix: 13 nTPM
- urinary bladder: 13 nTPM
- spleen: 10 nTPM
Single-cell type
- neutrophils: 1,082 nCPM
- cdc: 989 nCPM
- mast cells: 802 nCPM
- monocytes: 783 nCPM
- nk-cells: 631 nCPM
- innate lymphoid cells: 621 nCPM
Immune cell
- naive B-cell: 24 nTPM
- memory B-cell: 18 nTPM
- non-classical monocyte: 17 nTPM
- neutrophil: 14 nTPM
- intermediate monocyte: 14 nTPM
- classical monocyte: 12 nTPM
Brain region
- cerebellum: 35 nTPM
- medulla oblongata: 26 nTPM
- cerebral cortex: 25 nTPM
- hypothalamus: 25 nTPM
- white matter: 25 nTPM
- pons: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about REL.
Disease | AllUniProt
Conditions REL is implicated in, by any mechanism.
- Immunodeficiency 92 (IMD92) MIM:619652
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 264 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 92
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.23
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.76
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- canonical NF-kappaB signal transduction
- inflammatory response
- innate immune response
- negative regulation of gene expression
- negative regulation of interferon-beta production
- non-canonical NF-kappaB signal transduction
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of transcription by RNA polymerase II
- response to cytokine
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- NF-kappa-B/Dorsal
- IPT domain
- p53-like transcription factor, DNA-binding domain superfamily
- Rel homology domain, DNA-binding domain
- Immunoglobulin-like fold
- Immunoglobulin E-set
- Rel homology domain, conserved site
- Rel homology dimerisation domain
- NFkappaB IPT domain
- Rel homology domain (RHD), DNA-binding domain superfamily
- Rel homology DNA-binding domain
- Rel homology dimerisation domain
- Proto-oncogene c-Rel, RHD, N-terminal subdomain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of REL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads REL as an antibody target. Whether an autoantibody or antibody against REL could matter depends on whether native REL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
REL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label REL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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