Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4790
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear factor kappa B subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFKB1
Synonyms (NCBI Gene) Gene synonyms aliases
CVID12, EBP-1, KBF1, NF-kB, NF-kB1, NF-kappa-B1, NF-kappaB, NF-kappabeta, NFKB-p105, NFKB-p50, NFkappaB
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs773694113 ->T Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant
rs869320688 A>G Pathogenic Intron variant
rs869320689 T>C,G Likely-pathogenic, pathogenic Splice donor variant
rs869320754 ->A Pathogenic Frameshift variant, coding sequence variant
rs939459600 C>G,T Likely-pathogenic Missense variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003193 hsa-miR-9-5p qRT-PCR, Luciferase reporter assay, Western blot 19702828
MIRT004459 hsa-miR-146a-5p Luciferase reporter assay 18504431
MIRT004530 hsa-miR-146b-5p Luciferase reporter assay 18504431
MIRT003193 hsa-miR-9-5p Luciferase reporter assay 19702828
MIRT003193 hsa-miR-9-5p GFP reporter assay, qRT-PCR, Western blot 20102618
Transcription factors
Transcription factor Regulation Reference
APEX1 Activation 17045925
AR Repression 18386814
BCL3 Repression 11387332
BCL3 Unknown 14573596;7896265
BCL6 Repression 15611242
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IGI 24434150
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19881551
GO:0000165 Process MAPK cascade IDA 1833717
GO:0000165 Process MAPK cascade IEA
GO:0000785 Component Chromatin IC 34721373
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164011 7794 ENSG00000109320
Protein
UniProt ID P19838
Protein name Nuclear factor NF-kappa-B p105 subunit (DNA-binding factor KBF1) (EBP-1) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]
Protein function NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammati
PDB 1MDI , 1MDJ , 1MDK , 1NFI , 1SVC , 2DBF , 2O61 , 3GUT , 7LEQ , 7LET , 7LF4 , 7LFC , 7RG4 , 7RG5 , 8TQD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00554 RHD_DNA_bind 44 242 Rel homology DNA-binding domain Domain
PF16179 RHD_dimer 251 353 Rel homology dimerisation domain Domain
PF00023 Ank 583 613 Ankyrin repeat Repeat
PF12796 Ank_2 679 749 Ankyrin repeats (3 copies) Repeat
PF00531 Death 816 892 Death domain Domain
Sequence
MAEDDPYLGRPEQMFHLDPSLTHTIFNPEVFQPQMALPTDGPYLQILEQPKQRGFRFRYV
CEGPSHGGLPGASSEKNKKSYPQVKICNYVGPAKVIVQLVTNGKNIHLHAHSLVGKHCED
GICTVTAGPKDMVVGFANLGILHVTKKKVFETLEARMTEACIRGYNPGLLVHPDLAYLQA
EGGGDRQLGDREKELIRQAALQQTKEMDLSVVRLMFTAFLPDSTGSFTRRLEPVVSDAIY
DS
KAPNASNLKIVRMDRTAGCVTGGEEIYLLCDKVQKDDIQIRFYEEEENGGVWEGFGDF
SPTDVHRQFAIVFKTPKYKDINITKPASVFVQLRRKSDLETSEPKPFLYYPEI
KDKEEVQ
RKRQKLMPNFSDSFGGGSGAGAGGGGMFGSGGGGGGTGSTGPGYSFPHYGFPTYGGITFH
PGTTKSNAGMKHGTMDTESKKDPEGCDKSDDKNTVNLFGKVIETTEQDQEPSEATVGNGE
VTLTYATGTKEESAGVQDNLFLEKAMQLAKRHANALFDYAVTGDVKMLLAVQRHLTAVQD
ENGDSVLHLAIIHLHSQLVRDLLEVTSGLISDDIINMRNDLYQTPLHLAVITKQEDVVED
LLRAGADLSLLDR
LGNSVLHLAAKEGHDKVLSILLKHKKAALLLDHPNGDGLNAIHLAMM
SNSLPCLLLLVAAGADVNAQEQKSGRTALHLAVEHDNISLAGCLLLEGDAHVDSTTYDGT
TPLHIAAGRGSTRLAALLKAAGADPLVEN
FEPLYDLDDSWENAGEDEGVVPGTTPLDMAT
SWQVFDILNGKPYEPEFTSDDLLAQGDMKQLAEDVKLQLYKLLEIPDPDKNWATLAQKLG
LGILNNAFRLSPAPSKTLMDNYEVSGGTVRELVEALRQMGYTEAIEVIQAAS
SPVKTTSQ
AHSLPLSPASTRQQIDELRDSDSVCDSGVETSFRKLSFTESLTSGASLLTLNKMPHDYGQ
EGPLEGKI
Sequence length 968
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Antifolate resistance
MAPK signaling pathway
Ras signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
NF-kappa B signaling pathway
HIF-1 signaling pathway
Sphingolipid signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Cellular senescence
Osteoclast differentiation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
C-type lectin receptor signaling pathway
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
TNF signaling pathway
Neurotrophin signaling pathway
Prolactin signaling pathway
Adipocytokine signaling pathway
Relaxin signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Alcoholic liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Legionellosis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Regulated proteolysis of p75NTR
Downstream TCR signaling
NF-kB is activated and signals survival
Senescence-Associated Secretory Phenotype (SASP)
FCERI mediated NF-kB activation
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
PKMTs methylate histone lysines
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-1 processing
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
CD209 (DC-SIGN) signaling
CLEC7A/inflammasome pathway
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Neutrophil degranulation
The NLRP3 inflammasome
Transcriptional Regulation by VENTX
Interleukin-1 signaling
TRAF6 mediated NF-kB activation
HCMV Early Events
Purinergic signaling in leishmaniasis infection
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Common Variable Immunodeficiency immunodeficiency, common variable, 12, common variable immunodeficiency rs939459600, rs1578809101, rs869320688, rs1578771120, rs869320689, rs1578811073, rs869320754, rs1578771197, rs773694113, rs1578793298, rs1723945421, rs1560679469, rs1578793312, rs1560711146, rs1578790573 N/A
Immunodeficiency Inherited Immunodeficiency Diseases rs1578795536, rs869320689, rs1578735747, rs1578809101, rs1578811073, rs1578811245, rs1578771211, rs1578735709, rs773694113, rs1578793312 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Allergic Sensitization Allergic sensitization N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 23671649
Abnormalities Drug Induced Associate 11676830
Abortion Habitual Associate 36369952
Abortion Spontaneous Associate 29796818
Achalasia Addisonianism Alacrimia syndrome Associate 31597263
Acidemia isovaleric Associate 27391542
Acidosis Associate 23613998
Acidosis Stimulate 25504433
Acidosis Renal Tubular Associate 33125105
Acne Vulgaris Associate 25894228