Human Gene RELB (ENST00000221452.13_6) from GENCODE V47lift37
  Description: RELB proto-oncogene, NF-kB subunit (from RefSeq NM_006509.4)
Gencode Transcript: ENST00000221452.13_6
Gencode Gene: ENSG00000104856.15_14
Transcript (Including UTRs)
   Position: hg19 chr19:45,504,722-45,541,450 Size: 36,729 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr19:45,504,838-45,541,048 Size: 36,211 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:45,504,722-45,541,450)mRNA (may differ from genome)Protein (579 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RELB_HUMAN
DESCRIPTION: RecName: Full=Transcription factor RelB; AltName: Full=I-Rel;
FUNCTION: 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. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49.
SUBUNIT: Component of the NF-kappa-B RelB-p50 complex. Component of the NF-kappa-B RelB-p52 complex. Self-associates; the interaction seems to be transient and may prevent degradation allowing for heterodimer formation with p50 or p52. Interacts with NFKB1/p50, NFKB2/p52 and NFKB2/p100. Interacts with NFKBID (By similarity).
INTERACTION: Q8N668:COMMD1; NbExp=2; IntAct=EBI-357837, EBI-1550112; P49841:GSK3B; NbExp=4; IntAct=EBI-357837, EBI-373586;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, centrosome. Note=Co-localizes with NEK6 in the centrosome.
INDUCTION: By mitogens.
DOMAIN: Both N- and C-terminal domains are required for transcriptional activation.
PTM: Phosphorylation at 'Thr-103' and 'Ser-573' is followed by proteasomal degradation (By similarity).
SIMILARITY: Contains 1 RHD (Rel-like) domain.
CAUTION: Was originally (PubMed:1577270) thought to inhibit the transcriptional activity of nuclear factor NF-kappa-B.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RELBID324.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RELB
Diseases sorted by gene-association score: immunodeficiency 53* (950), reticuloendotheliosis (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.28 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 265.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.30116-0.391 Picture PostScript Text
3' UTR -154.70402-0.385 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR002909 - IPT_TIG_rcpt
IPR000451 - NF_Rel_dor
IPR008967 - p53-like_TF_DNA-bd
IPR011539 - RHD

Pfam Domains:
PF00554 - Rel homology DNA-binding domain
PF16179 - Rel homology dimerisation domain
PF16180 - RelB leucine zipper
PF16181 - RelB transactivation domain

SCOP Domains:
81296 - E set domains
49417 - p53-like transcription factors

ModBase Predicted Comparative 3D Structure on Q01201
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001047 core promoter binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0042802 identical protein binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006954 inflammatory response
GO:0007249 I-kappaB kinase/NF-kappaB signaling
GO:0010628 positive regulation of gene expression
GO:0019882 antigen processing and presentation
GO:0030098 lymphocyte differentiation
GO:0032688 negative regulation of interferon-beta production
GO:0032922 circadian regulation of gene expression
GO:0034097 response to cytokine
GO:0038061 NIK/NF-kappaB signaling
GO:0042088 T-helper 1 type immune response
GO:0043011 myeloid dendritic cell differentiation
GO:0045063 T-helper 1 cell differentiation
GO:0045087 innate immune response
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process
GO:0071470 cellular response to osmotic stress

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0032991 macromolecular complex
GO:0033256 I-kappaB/NF-kappaB complex
GO:0005813 centrosome


-  Descriptions from all associated GenBank mRNAs
  M83221 - Homo sapiens I-Rel mRNA, complete cds.
BC028013 - Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B, mRNA (cDNA clone MGC:39970 IMAGE:5215944), complete cds.
AK290594 - Homo sapiens cDNA FLJ75649 complete cds, highly similar to Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian) (RELB), mRNA.
KJ891994 - Synthetic construct Homo sapiens clone ccsbBroadEn_01388 RELB gene, encodes complete protein.
JD077224 - Sequence 58248 from Patent EP1572962.
JD498656 - Sequence 479680 from Patent EP1572962.
JD278861 - Sequence 259885 from Patent EP1572962.
JD228066 - Sequence 209090 from Patent EP1572962.
JD260106 - Sequence 241130 from Patent EP1572962.
JD101281 - Sequence 82305 from Patent EP1572962.
JD295320 - Sequence 276344 from Patent EP1572962.
JD052174 - Sequence 33198 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q01201 (Reactome details) participates in the following event(s):

R-HSA-5660980 p-S276-RELA binds RELB
R-HSA-5607741 p52:RELB translocates from cytosol to nucleus
R-HSA-5607720 p100:RELB binds active NIK:p-IKKA dimer
R-HSA-5607723 SCF-beta-TRCP binds p-7S-p100 in active NIK:p-S176,180-IKKA dimer:p-7S-p100:RELB
R-HSA-5607726 Active NIK:p-S176,180-IKKA dimer phosphorylates p100:RELB
R-HSA-5621575 CD209 (DC-SIGN) signaling
R-HSA-5607761 Dectin-1 mediated noncanonical NF-kB signaling
R-HSA-5676590 NIK-->noncanonical NF-kB signaling
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-168249 Innate Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000221452.1, ENST00000221452.10, ENST00000221452.11, ENST00000221452.12, ENST00000221452.2, ENST00000221452.3, ENST00000221452.4, ENST00000221452.5, ENST00000221452.6, ENST00000221452.7, ENST00000221452.8, ENST00000221452.9, NM_006509, Q01201, Q6GTX7, Q9UEI7, RELB_HUMAN, uc317dbe.1, uc317dbe.2
UCSC ID: ENST00000221452.13_6
RefSeq Accession: NM_006509.4
Protein: Q01201 (aka RELB_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.