REL
entrez
5966
canonical
uniprot
Q04864
canonical
ensembl
ENSG00000162924
resolver
ensp
ENSP00000295025
resolver
ensp
ENSP00000377989
resolver
ensp
ENSP00000514191
resolver
enst
ENST00000699191
resolver
genesymbol
REL
resolver
hgnc
HGNC:9954
resolver
uniprot
A0A8V8TPL7
resolver
uniprot
Q17RU2
resolver
uniprot
Q2PNZ7
resolver
uniprot
Q6LDY0
resolver
uniprot_entry
A0A8V8TPL7_HUMAN
resolver
uniprot_entry
REL_HUMAN
resolver
uniprot_sec
Q17RU2
resolver
uniprot_sec
Q2PNZ7
resolver
uniprot_sec
Q6LDY0
resolver
amino_acid_sequence
MASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTKNDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPDEHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPPYCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKDTYGNKAKKQKTTLLFQKLCQDHVETGFRHVDQDGLELLTSGDPPTLASQSAGITVNFPERPRPGLLGSIGEGRYFKKEPNLFSHDAVVREMPTGVSSQAESYYPSPGPISSGLSHHASMAPLPSSSWSSVAHPTPRSGNTNPLSSFSTRTLPSNSQGIPPFLRIPVGNDLNASNACIYNNADDIVGMEASSMPSADLYGISDPNMLSNCSVNMMTTSSDSMGETDNPRLLSMNLENPSCNSVLDPRDLRQLHQMSSSSMSAGANSNTTVFVSQSDAFEGSDFSCADNSMINESGPSNSTNPNSHGFVQDSQYSGIGSMQNEQLSDSFPYEFFQV
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 92 (IMD92) [MIM:619652]: An autosomal recessive disorder characterized by recurrent bacterial, viral, fungal, or parasitic infections appearing in infancy or early childhood. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. {ECO:0000269|PubMed:31103457, ECO:0000269|PubMed:34623332}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator.
uniprot
proteins
mass_dalton
68520
uniprot
proteins
pubmed
10823840
uniprot
proteins
pubmed
15024091
uniprot
proteins
pubmed
15102766
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
1740106
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
2666912
uniprot
proteins
pubmed
3016517
uniprot
proteins
pubmed
31103457
uniprot
proteins
pubmed
34623332
uniprot
proteins
pubmed
8152812
uniprot
proteins
pubmed
9056676
uniprot
proteins
pubmed
9315679
uniprot
proteins
sequence_length
619
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins