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NFKB1 (nuclear factor of kappa light polypeptide gene enhancer in B-cells 1)

Written2002-01Fei Chen
Health Effects Laboratory Division, NIOSH, 1095 Willowdale Rd, Morgantown, WV 26505, USA

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)NF-kB p105
NF-kB p50
HGNC (Hugo) NFKB1
HGNC Alias symbKBF1
p105
NFKB-p50
p50
NF-kappaB
NFkappaB
NF-kB1
HGNC Alias nameNuclear factor NF-kappa-B p105 subunit
HGNC Previous namenuclear factor of kappa light polypeptide gene enhancer in B-cells 1
LocusID (NCBI) 4790
Atlas_Id 323
Location 4q24  [Link to chromosome band 4q24]
Location_base_pair Starts at 102501359 and ends at 102617302 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping NFKB1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LRBA (4q31.3)::NFKB1 (4q24)NFKB1 (4q24)::FAM160A1 (4q31.3)NFKB1 (4q24)::ITPKB (1q42.12)
NFKB1 (4q24)::KMT2A (11q23.3)NFKB1 (4q24)::MANBA (4q24)NFKB1 (4q24)::NFKB1 (4q24)
Note see also, in the Deep Insight section: Upstream Signal Transduction of NF-kB Activation

DNA/RNA

Description The gene encoding human nfkb1 has 24 exons spanning 156 kb. The expression of nfkb1 can be positively regulated by NF-kB itself and possibly Ets family transcription factors.

Protein

 
Description The nfkb1 gene encodes a protein composed 968 amino acids with an approximately molecular weight of 105 kDa, which was considered as a precursor of p50 subunit of NF-kB complexes. In the N-terminal region of NF-kB1, there is a Rel homology domain (RHD) composed of ~300 amino acids that are responsible for DNA binding, dimerization with other Rel family members, and interaction with IkB proteins. The C-terminal region of NF-kB1 contains multiple copies of the so-called ankyrin repeats which is found in IkB family members, including IkBa, IkBb, IkBe, Bcl3, and Drosophila cactus. The earlier studies by several groups demonstrated that NF-kB1 was posttranslationally cleaved to produce the p50 molecule through the ubiquitin-proteasome dependent degradation of the C-terminal portion of NF-kB1. Further studies by Lin and Ghosh suggested that a glycine-rich region (GRR) within the region of 375 to 400 of NF-kB1 is necessary and sufficient for directing the cleavage of NF-kB1. However, recent studies challenged this model and revealed a novel mechanism in which p50 is generated by a unique cotranslational processing event involving the 26S proteasome. In other words, NF-kB1 is not the precursor of p50.
Expression nfkb1 is widely expressed in virtually all type of cells in both adults and in the embryo.
Localisation cytosol, nuclei after activation.
Function regulation of the genes involved in cell-to-cell interaction, intercellular communication, cell recruitment or transmigration, amplification or spreading of primary pathogenic signals, and initiation or acceleration of tumorigenesis. The full length of NF-kB1 can serve as an endogenous inhibitor for the NF-kB p50/ heterodimer. It has been proposed that the homodimer of NF-kB p50 was transcriptionally inactive in the absence of Bcl3. Furthermore, the NF-kB p50 homodimer may function to competitively inhibit B binding by transactivating NF- B dimers. The Bcl3 protein can form a complex with this homodimer at B sites and act as a transactivator of NF-kB p50 homodimer. Interaction with : members of IkB family and Rel family, LYL1 , Bcl3, NCOA1a(V).

Implicated in

Note
  
Entity cancer (see below), autoimmune arthritis, glomerulonephritis, asthma, inflammatory bowel disease, septic shock, lung fibrosis, HTLV-1 infection, and AIDS.
Oncogenesis overexpression of nfkb1 has been found in a number of human cancer including non-small cell lung carcinoma, colon cancer, prostate cancer, breast cancer, bone cancer and brain cancer. The rearrangement of nfkb1 gene, however, only has been identified in certain acute lymphoblastic leukemias.
  

Bibliography

The NF-kappa B and I kappa B proteins: new discoveries and insights.
Baldwin AS Jr
Annual review of immunology. 1996 ; 14 : 649-683.
PMID 8717528
 
New insights into the role of nuclear factor-kappaB, a ubiquitous transcription factor in the initiation of diseases.
Chen F, Castranova V, Shi X, Demers LM
Clinical chemistry. 1999 ; 45 (1) : 7-17.
PMID 9895331
 
NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses.
Ghosh S, May MJ, Kopp EB
Annual review of immunology. 1998 ; 16 : 225-260.
PMID 9597130
 
Cotranslational biogenesis of NF-kappaB p50 by the 26S proteasome.
Lin L, DeMartino GN, Greene WC
Cell. 1998 ; 92 (6) : 819-828.
PMID 9529257
 
Related subunits of NF-kappa B map to two distinct loci associated with translocations in leukemia, NFKB1 and NFKB2.
Liptay S, Schmid RM, Perkins ND, Meltzer P, Altherr MR, McPherson JD, Wasmuth JJ, Nabel GJ
Genomics. 1992 ; 13 (2) : 287-292.
PMID 1612589
 

Citation

This paper should be referenced as such :
Chen, F
NFKB1 (nuclear factor of kappa light polypeptide gene enhancer in B-cells 1)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):96-97.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  Nodular lymphocyte-predominant Hodgkin lymphoma
t(2;9)(p23;q33) TRAF1::ALK
t(7;19)(q34;p13) TRB::LYL1
t(14;18)(q32;q21) IGH::MALT1
t(14;19)(q32;q13) IGH::Various Partners
ins(11;4)(q23;q21q24) NFKB1::KMT2A
t(X;14)(p11.4;q32.33) IGH::GPR34


External links

 

Nomenclature
HGNC (Hugo)NFKB1   7794
Cards
AtlasNFKB1ID323
Entrez_Gene (NCBI)NFKB1    nuclear factor kappa B subunit 1
AliasesCVID12; EBP-1; KBF1; NF-kB; 
NF-kB1; NF-kappa-B1; NF-kappaB; NF-kappabeta; NFKB-p105; NFKB-p50; NFkappaB
GeneCards (Weizmann)NFKB1
Ensembl hg19 (Hinxton)ENSG00000109320 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109320 [Gene_View]  ENSG00000109320 [Sequence]  chr4:102501359-102617302 [Contig_View]  NFKB1 [Vega]
ICGC DataPortalENSG00000109320
TCGA cBioPortalNFKB1
AceView (NCBI)NFKB1
Genatlas (Paris)NFKB1
SOURCE (Princeton)NFKB1
Genetics Home Reference (NIH)NFKB1
Genomic and cartography
GoldenPath hg38 (UCSC)NFKB1  -     chr4:102501359-102617302 +  4q24   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NFKB1  -     4q24   [Description]    (hg19-Feb_2009)
GoldenPathNFKB1 - 4q24 [CytoView hg19]  NFKB1 - 4q24 [CytoView hg38]
ImmunoBaseENSG00000109320
Genome Data Viewer NCBINFKB1 [Mapview hg19]  
OMIM164011   616576   
Gene and transcription
Genbank (Entrez)AI076882 AK122850 AK291450 BC033210 BC051765
RefSeq transcript (Entrez)NM_001165412 NM_001319226 NM_001382625 NM_001382626 NM_001382627 NM_001382628 NM_003998
Consensus coding sequences : CCDS (NCBI)NFKB1
Gene ExpressionNFKB1 [ NCBI-GEO ]   NFKB1 [ EBI - ARRAY_EXPRESS ]   NFKB1 [ SEEK ]   NFKB1 [ MEM ]
Gene Expression Viewer (FireBrowse)NFKB1 [ Firebrowse - Broad ]
GenevisibleExpression of NFKB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4790
GTEX Portal (Tissue expression)NFKB1
Human Protein AtlasENSG00000109320-NFKB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19838   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19838  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19838
PhosPhoSitePlusP19838
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    REL_1 (PS01204)    REL_2 (PS50254)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    DEATH-like_dom_sf    Death_domain    Ig-like_fold    Ig_E-set    IPT_dom    IPT_NFkappaB    NF-kB_p105    NFkB/Dor    p53-like_TF_DNA-bd    RHD_CS    RHD_dimer    RHD_DNA_bind_dom    RHD_DNA_bind_dom_sf   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Death (PF00531)    RHD_dimer (PF16179)    RHD_DNA_bind (PF00554)   
Domain families : Pfam (NCBI)pfam12796    pfam00531    pfam16179    pfam00554   
Domain families : Smart (EMBL)ANK (SM00248)  DEATH (SM00005)  IPT (SM00429)  
Conserved Domain (NCBI)NFKB1
PDB (RSDB)1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
PDB Europe1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
PDB (PDBSum)1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
PDB (IMB)1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
Structural Biology KnowledgeBase1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
SCOP (Structural Classification of Proteins)1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
CATH (Classification of proteins structures)1MDI    1MDJ    1MDK    1NFI    1SVC    2DBF    2O61    3GUT   
SuperfamilyP19838
AlphaFold pdb e-kbP19838   
Human Protein Atlas [tissue]ENSG00000109320-NFKB1 [tissue]
HPRD01238
Protein Interaction databases
DIP (DOE-UCLA)P19838
IntAct (EBI)P19838
BioGRIDNFKB1
STRING (EMBL)NFKB1
ZODIACNFKB1
Ontologies - Pathways
QuickGOP19838
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  transcription cis-regulatory region binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  stimulatory C-type lectin receptor signaling pathway  chromatin binding  DNA-binding transcription factor activity  protein binding  extracellular region  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  apoptotic process  inflammatory response  negative regulation of gene expression  positive regulation of macrophage derived foam cell differentiation  positive regulation of lipid storage  negative regulation of calcidiol 1-monooxygenase activity  negative regulation of vitamin D biosynthetic process  membrane protein intracellular domain proteolysis  negative regulation of cellular protein metabolic process  negative regulation of cholesterol transport  positive regulation of type I interferon production  negative regulation of interleukin-12 production  I-kappaB/NF-kappaB complex  secretory granule lumen  specific granule lumen  response to muscle stretch  Fc-epsilon receptor signaling pathway  identical protein binding  actinin binding  negative regulation of apoptotic process  neutrophil degranulation  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  negative regulation of inflammatory response  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  stress-activated MAPK cascade  regulation of transcription initiation from RNA polymerase II promoter  interleukin-1-mediated signaling pathway  cellular response to lipopolysaccharide  cellular response to mechanical stimulus  cellular response to nicotine  cellular response to interleukin-1  cellular response to interleukin-6  cellular response to tumor necrosis factor  cellular response to dsRNA  positive regulation of canonical Wnt signaling pathway  positive regulation of hyaluronan biosynthetic process  cellular response to angiotensin  positive regulation of miRNA metabolic process  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  negative regulation of transcription by RNA polymerase II  chromatin  transcription cis-regulatory region binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  stimulatory C-type lectin receptor signaling pathway  chromatin binding  DNA-binding transcription factor activity  protein binding  extracellular region  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  apoptotic process  inflammatory response  negative regulation of gene expression  positive regulation of macrophage derived foam cell differentiation  positive regulation of lipid storage  negative regulation of calcidiol 1-monooxygenase activity  negative regulation of vitamin D biosynthetic process  membrane protein intracellular domain proteolysis  negative regulation of cellular protein metabolic process  negative regulation of cholesterol transport  positive regulation of type I interferon production  negative regulation of interleukin-12 production  I-kappaB/NF-kappaB complex  secretory granule lumen  specific granule lumen  response to muscle stretch  Fc-epsilon receptor signaling pathway  identical protein binding  actinin binding  negative regulation of apoptotic process  neutrophil degranulation  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  negative regulation of inflammatory response  T cell receptor signaling pathway  positive regulation of NF-kappaB transcription factor activity  stress-activated MAPK cascade  regulation of transcription initiation from RNA polymerase II promoter  interleukin-1-mediated signaling pathway  cellular response to lipopolysaccharide  cellular response to mechanical stimulus  cellular response to nicotine  cellular response to interleukin-1  cellular response to interleukin-6  cellular response to tumor necrosis factor  cellular response to dsRNA  positive regulation of canonical Wnt signaling pathway  positive regulation of hyaluronan biosynthetic process  cellular response to angiotensin  positive regulation of miRNA metabolic process  
Pathways : BIOCARTAATM Signaling Pathway [Genes]    Keratinocyte Differentiation [Genes]    NFkB activation by Nontypeable Hemophilus influenzae [Genes]    Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy [Genes]    Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]    HIV-I Nef: negative effector of Fas and TNF [Genes]    Ceramide Signaling Pathway [Genes]    Induction of apoptosis through DR3 and DR4/5 Death Receptors [Genes]    Free Radical Induced Apoptosis [Genes]    Bone Remodelling [Genes]    TNF/Stress Related Signaling [Genes]    T Cell Receptor Signaling Pathway [Genes]    NF-kB Signaling Pathway [Genes]    Human Cytomegalovirus and Map Kinase Pathways [Genes]    Influence of Ras and Rho proteins on G1 to S Transition [Genes]    fMLP induced chemokine gene expression in HMC-1 cells [Genes]    Corticosteroids and cardioprotection [Genes]    TNFR2 Signaling Pathway [Genes]    Signal transduction through IL1R [Genes]    Activation of PKC through G protein coupled receptor [Genes]    Double Stranded RNA Induced Gene Expression [Genes]    Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells [Genes]    Acetylation and Deacetylation of RelA in The Nucleus [Genes]    Erythropoietin mediated neuroprotection through NF-kB [Genes]    The 4-1BB-dependent immune response [Genes]    AKT Signaling Pathway [Genes]    CD40L Signaling Pathway [Genes]    CXCR4 Signaling Pathway [Genes]    The information-processing pathway at the IFN-beta enhancer [Genes]    TACI and BCMA stimulation of B cell immune responses. [Genes]    Chaperones modulate interferon Signaling Pathway [Genes]    Toll-Like Receptor Pathway [Genes]    Cadmium induces DNA synthesis and proliferation in macrophages [Genes]    MAPKinase Signaling Pathway [Genes]    Ras Signaling Pathway [Genes]   
Pathways : KEGGMAPK signaling pathway    Ras signaling pathway    Chemokine signaling pathway    NF-kappa B signaling pathway    HIF-1 signaling pathway    PI3K-Akt signaling pathway    Apoptosis    Osteoclast differentiation    Toll-like receptor signaling pathway    NOD-like receptor signaling pathway    RIG-I-like receptor signaling pathway    Cytosolic DNA-sensing pathway    T cell receptor signaling pathway    B cell receptor signaling pathway    TNF signaling pathway    Neurotrophin signaling pathway    Prolactin signaling pathway    Adipocytokine signaling pathway    Non-alcoholic fatty liver disease (NAFLD)    Cocaine addiction    Epithelial cell signaling in Helicobacter pylori infection    Shigellosis    Salmonella infection    Pertussis    Legionellosis    Leishmaniasis    Chagas disease (American trypanosomiasis)    Toxoplasmosis    Amoebiasis    Tuberculosis    Hepatitis C    Hepatitis B    Measles    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Pathways in cancer    Transcriptional misregulation in cancer    Viral carcinogenesis    MicroRNAs in cancer    Pancreatic cancer    Prostate cancer    Chronic myeloid leukemia    Acute myeloid leukemia    Small cell lung cancer    Inflammatory bowel disease (IBD)   
REACTOMEP19838 [protein]
REACTOME PathwaysR-HSA-933542 [pathway]   
NDEx NetworkNFKB1
Atlas of Cancer Signalling NetworkNFKB1
Wikipedia pathwaysNFKB1
Orthology - Evolution
OrthoDB4790
GeneTree (enSembl)ENSG00000109320
Phylogenetic Trees/Animal Genes : TreeFamNFKB1
Homologs : HomoloGeneNFKB1
Homology/Alignments : Family Browser (UCSC)NFKB1
Gene fusions - Rearrangements
Fusion : MitelmanLRBA::NFKB1 [4q31.3/4q24]  
Fusion : MitelmanNFKB1::FAM160A1 [4q24/4q31.3]  
Fusion : QuiverNFKB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNFKB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NFKB1
dbVarNFKB1
ClinVarNFKB1
MonarchNFKB1
1000_GenomesNFKB1 
Exome Variant ServerNFKB1
GNOMAD BrowserENSG00000109320
Varsome BrowserNFKB1
ACMGNFKB1 variants
VarityP19838
Genomic Variants (DGV)NFKB1 [DGVbeta]
DECIPHERNFKB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNFKB1 
Mutations
ICGC Data PortalNFKB1 
TCGA Data PortalNFKB1 
Broad Tumor PortalNFKB1
OASIS PortalNFKB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNFKB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNFKB1
Mutations and Diseases : HGMDNFKB1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNFKB1
DgiDB (Drug Gene Interaction Database)NFKB1
DoCM (Curated mutations)NFKB1
CIViC (Clinical Interpretations of Variants in Cancer)NFKB1
NCG (London)NFKB1
Cancer3DNFKB1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164011    616576   
Orphanet3469   
DisGeNETNFKB1
MedgenNFKB1
Genetic Testing Registry NFKB1
NextProtP19838 [Medical]
GENETestsNFKB1
Target ValidationNFKB1
Huge Navigator NFKB1 [HugePedia]
ClinGenNFKB1
Clinical trials, drugs, therapy
MyCancerGenomeNFKB1
Protein Interactions : CTDNFKB1
Pharm GKB GenePA248
Pharm GKB PathwaysPA162356267   PA165985892   
PharosP19838
Clinical trialNFKB1
Miscellaneous
canSAR (ICR)NFKB1
HarmonizomeNFKB1
DataMed IndexNFKB1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNFKB1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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