RELB RELB proto-oncogene, NF-kB subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: RELBprovided by HGNC
Official Full Name: RELB proto-oncogene, NF-kB subunitprovided by HGNC
Primary source: HGNC:HGNC:9956
See related: Ensembl:ENSG00000104856 MIM:604758; AllianceGenome:HGNC:9956
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: IREL; I-REL; IMD53; REL-B
Summary: Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and protein kinase binding activity. Involved in lymphocyte differentiation and negative regulation of interferon-beta production. Located in several cellular components, including centrosome; chromatin; and nucleoplasm. Part of nucleus and transcription repressor complex. Implicated in breast cancer and immunodeficiency 53. Biomarker of breast cancer and transitional cell carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bone marrow (RPKM 14.1), appendix (RPKM 10.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45001464..45038192)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (47826284..47863291)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45504722..45541450)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Title: Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Inflammation in Hypervolemic Hemodialysis Patients: The Roles of RelB and Caspase-4.
Title: Inflammation in Hypervolemic Hemodialysis Patients: The Roles of RelB and Caspase-4.
NFkappaB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.
Title: NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.
RelB represses miR-193a-5p expression to promote the phenotypic transformation of vascular smooth muscle cells in aortic aneurysm.
Title: RelB represses miR-193a-5p expression to promote the phenotypic transformation of vascular smooth muscle cells in aortic aneurysm.
NF-kappaB Signaling Modulates miR-452-5p and miR-335-5p Expression to Functionally Decrease Epithelial Ovarian Cancer Progression in Tumor-Initiating Cells.
Title: NF-κB Signaling Modulates miR-452-5p and miR-335-5p Expression to Functionally Decrease Epithelial Ovarian Cancer Progression in Tumor-Initiating Cells.
RelB contributes to the survival, migration and lymphomagenesis of B cells with constitutively active CD40 signaling.
Title: RelB contributes to the survival, migration and lymphomagenesis of B cells with constitutively active CD40 signaling.
RelB promotes the migration and invasion of prostate cancer DU145 cells via exosomal ICAM1 in vitro.
Title: RelB promotes the migration and invasion of prostate cancer DU145 cells via exosomal ICAM1 in vitro.
The alternative RelB NF-kappaB subunit is a novel critical player in diffuse large B-cell lymphoma.
Title: The alternative RelB NF-κB subunit is a novel critical player in diffuse large B-cell lymphoma.
Serum RelB is correlated with renal fibrosis and predicts chronic kidney disease progression.
Title: Serum RelB is correlated with renal fibrosis and predicts chronic kidney disease progression.
Crosstalk between Heart Failure and Cognitive Impairment via hsa-miR-933/RELB/CCL21 Pathway.
Title: Crosstalk between Heart Failure and Cognitive Impairment via hsa-miR-933/RELB/CCL21 Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (97)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency 53 MedGen: C4539811 OMIM: 617585 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection induces basal mRNA levels of JUN, IL6, STAT1, CEBPA, RELA, and CEBPG in monocyte derived macrophages	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of v-rel avian reticuloendotheliosis viral oncogene homolog B (RELB) in human cells	PubMed
	tat	NFkappaB tethers the p160 nuclear receptor co-activator GRIP1 to the HIV-1 LTR promoter, thereby regulating the full activation of this promoter by HIV-1 Tat	PubMed
	tat	HIV-1 Tat has been shown to bind NFkappaB in vitro in gel shift, GST-pull down and affinity matrix assays	PubMed
	tat	NFAT-1 negatively regulates HIV-1 Tat-mediated transactivation of the HIV-1 LTR by competing with NFkappaB for its binding to the LTR, thereby blocking the interaction of NFkappaB with Tat	PubMed
	tat	HIV-1 Tat enhances tumor necrosis factor-induced activation of NFkappaB by downregulating manganese-dependent superoxide dismutase (MnSOD)	PubMed
	tat	HIV-1 Tat activates NFkappaB through the cellular interferon-inducible, double-stranded RNA dependent protein kinase, PKR	PubMed
	tat	p56-lck plays a critical role in the activation of NFkappaB by HIV-1 Tat	PubMed
	tat	Activation of NFkappaB by HIV-1 Tat leads to a reduction in adenylyl cyclase activity and an inhibition of cAMP synthesis	PubMed
	tat	Activation of NFkappaB by HIV-1 Tat is inhibited by Nitric Oxide	PubMed
	tat	HIV-1 Tat activates NFkappaB, causing the induction of CD95 ligand, CD69, iNOS, MCP-1, IL-2, IL-6, IL-8, IL-10, TNF-alpha, VCAM-1, ICAM-1, E-selectin, and MMP-9, as well as monocyte adhesion, cellular activation and angiogenesis	PubMed
	tat	HIV-1 Tat-mediated transcriptional activation of the HIV-1 LTR promoter requires NFkappaB binding sites in the promoter and involves the activation of NFkappaB by Tat	PubMed
Vpr	vpr	HIV-1 Vpr stimulates non-canonical NFKappaB pathway by inducing the phosphorylation of NFKappaB2 (p100) at serine 866, which leads to process p100 into RelB/p52 and its subsequent nuclear translocation	PubMed
	vpr	RelB promotes Vpr-induced cell cycle G2/M arrest	PubMed
	vpr	HIV-1 Vpr interacts with RelB to promote the Vpr-mediated activation of NF-kappaB reporter gene and to enhance the transactivation of HIV LTR	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T-helper 1 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in antigen processing and presentation	IEA Inferred from Electronic Annotation more info
involved_in canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to osmotic stress	IEA Inferred from Electronic Annotation more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in lymphocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myeloid dendritic cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in response to cytokine	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of NF-kappaB complex	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor RelB

Names: v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3); v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3

NCBI Reference Sequences (RefSeq)

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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_001411087.1 → NP_001398016.1 transcription factor RelB isoform 2

Status: VALIDATED

Source sequence(s)

AC011489

Consensus CDS

CCDS92640.1

UniProtKB/TrEMBL

D6R992

Related

ENSP00000423287.1, ENST00000505236.2
NM_006509.4 → NP_006500.2 transcription factor RelB isoform 1

See identical proteins and their annotated locations for NP_006500.2

Status: VALIDATED

Source sequence(s)

BC028013, BM684710, DA940587

Consensus CDS

CCDS46110.1

UniProtKB/Swiss-Prot

Q01201, Q6GTX7, Q9UEI7

UniProtKB/TrEMBL

A8K3H9

Related

ENSP00000221452.7, ENST00000221452.13

Conserved Domains (4) summary

cd07886
Location:125 → 296

RHD-n_RelB; N-terminal sub-domain of the Rel homology domain (RHD) of the reticuloendotheliosis viral oncogene homolog B (RelB) protein

pfam16181
Location:403 → 579

RelB_transactiv; RelB transactivation domain

pfam16179
Location:304 → 400

RHD_dimer; Rel homology dimerisation domain

pfam16180
Location:18 → 96

RelB_leu_zip; RelB leucine zipper

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45001464..45038192

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439189.1 → XP_047295145.1 transcription factor RelB isoform X2
XM_005259128.3 → XP_005259185.1 transcription factor RelB isoform X1

UniProtKB/TrEMBL

A8K3H9

Conserved Domains (4) summary

cd07886
Location:125 → 296

RHD-n_RelB; N-terminal sub-domain of the Rel homology domain (RHD) of the reticuloendotheliosis viral oncogene homolog B (RelB) protein

pfam16180
Location:18 → 110

RelB_leu_zip; RelB leucine zipper

pfam16181
Location:331 → 507

RelB_transactiv; RelB transactivation domain

cl15674
Location:303 → 331

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
XM_047439190.1 → XP_047295146.1 transcription factor RelB isoform X3