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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NFKB1
nuclear factor kappa B subunit 1
Chromosome 4 · 4q24
NCBI Gene: 4790Ensembl: ENSG00000109320.15HGNC: HGNC:7794UniProt: P19838
3,393PubMed Papers
21Diseases
1Drugs
157Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedLandmark GeneTrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of canonical Wnt signaling pathwaycellular response to nicotinecellular response to mechanical stimuluspositive regulation of transcription by RNA polymerase IIcommon variable immunodeficiencyimmunodeficiency diseaseprimary biliary cirrhosishypothyroidism
✦AI Summary

NFKB1 encodes the p50 subunit of the nuclear factor kappa-B transcription factor complex, which associates with RELA/p65 to form the NF-κB p65-p50 heterodimer 12. This complex binds kappa-B consensus sequences in gene enhancer regions to regulate transcription of immune response and acute phase reaction genes 12. NFKB1 is essential for natural killer (NK) cell maturation and effector functions; mutations impair NK cell cytotoxicity and interferon-gamma production 3. NFKB1 also functions as a transcriptional regulator of CD200R1, controlling microglial quiescence and neuroinflammation 4. Loss-of-function NFKB1 mutations cause autosomal-dominant inborn errors of immunity characterized by immunodeficiency with immune dysregulation 5. Patients present with hypogammaglobulinemia (88.9%), reduced switched memory B cells, and respiratory infections, alongside autoimmunity (57.4%), lymphoproliferation (52.4%), and autoinflammation (29.6%) 5. Truncating variants impair autophagy and trigger combined NLRP3 inflammasome and type I interferon activation, predisposing to necrotizing fasciitis 6. Reduced NFKB1 expression contributes to Parkinson's disease pathogenesis through CD200R1 dysregulation and microglial overactivation 4. Additionally, NFKB1 rs28362491 polymorphism associates with decreased head and neck cancer risk, particularly nasopharyngeal carcinoma 7.

Sources cited
1
NFKB1 associates with RELA/p65 to form NF-κB p65-p50 transcription factor complex binding kappa-B consensus sequences
PMID: 1740106
2
NFKB1-RELA/p65 complex binds kappa-B consensus sequences in immune response and acute phase reaction gene enhancers
PMID: 7830764
3
NFKB1 mutations impair human NK cell maturation, cytotoxicity, and interferon-gamma production
PMID: 27923702
4
NFKB1 directly regulates CD200R1 expression and controls microglial quiescence; reduced NFKB1 contributes to Parkinson's disease
PMID: 39294682
5
NFKB1 loss-of-function mutations cause primary immunodeficiency with immune dysregulation including hypogammaglobulinemia, autoimmunity, and autoinflammation
PMID: 32278790
6
Truncating NFKB1 variants impair autophagy and trigger combined NLRP3 inflammasome and type I interferon activation, predisposing to necrotizing fasciitis
PMID: 38593810
7
NFKB1 rs28362491 polymorphism associates with decreased head and neck cancer risk, particularly nasopharyngeal carcinoma
PMID: 31612070
Disease Associationsⓘ21
common variable immunodeficiencyOpen Targets
0.72Strong
immunodeficiency diseaseOpen Targets
0.52Moderate
primary biliary cirrhosisOpen Targets
0.48Moderate
hypothyroidismOpen Targets
0.45Moderate
allergic rhinitisOpen Targets
0.44Moderate
ulcerative colitisOpen Targets
0.42Moderate
systemic sclerodermaOpen Targets
0.40Weak
Eczematoid dermatitisOpen Targets
0.40Weak
Abnormality of the skeletal systemOpen Targets
0.39Weak
myxedemaOpen Targets
0.39Weak
tonsillitisOpen Targets
0.38Weak
inborn error of immunityOpen Targets
0.38Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
infectious diseaseOpen Targets
0.37Weak
upper respiratory tract disorderOpen Targets
0.37Weak
hypertensionOpen Targets
0.36Weak
primary ciliary dyskinesiaOpen Targets
0.34Weak
Abdominal Aortic AneurysmOpen Targets
0.34Weak
Crohn's diseaseOpen Targets
0.33Weak
Immunodeficiency, common variable, 12, with autoimmunityUniProt
Pathogenic Variants157
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter)Pathogenic
Immunodeficiency, common variable, 12|not provided
★★☆☆2026→ Residue 157
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)Pathogenic
Immunodeficiency, common variable, 12|not provided|Inherited Immunodeficiency Diseases
★★☆☆2025→ Residue 302
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)Pathogenic
Common variable immunodeficiency|Inherited Immunodeficiency Diseases|Immunodeficiency, common variable, 12|not provided
★★☆☆2025→ Residue 284
NM_003998.4(NFKB1):c.376_377del (p.Val126fs)Pathogenic
not provided
★★☆☆2025→ Residue 126
NM_003998.4(NFKB1):c.407+2T>GPathogenic
Immunodeficiency, common variable, 12|not provided
★★☆☆2025
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)Pathogenic
Immunodeficiency, common variable, 12|not provided
★★☆☆2025→ Residue 359
NM_003998.4(NFKB1):c.2083G>T (p.Glu695Ter)Pathogenic
not provided
★★☆☆2024→ Residue 695
NM_003998.4(NFKB1):c.1753-1G>CLikely pathogenic
not provided|Common variable immunodeficiency
★★☆☆2024
NM_003998.4(NFKB1):c.317dup (p.Asn106fs)Pathogenic
Immunodeficiency, common variable, 12|not provided
★★☆☆2024→ Residue 106
NM_003998.4(NFKB1):c.2602_2603dup (p.Thr869fs)Pathogenic
not provided
★★☆☆2024→ Residue 869
NM_003998.4(NFKB1):c.407+1G>APathogenic
not provided|Immunodeficiency, common variable, 12
★★☆☆2023
NM_003998.4(NFKB1):c.1402C>T (p.Gln468Ter)Pathogenic
not provided|Immunodeficiency, common variable, 12
★★☆☆2023→ Residue 468
NM_003998.4(NFKB1):c.418_427del (p.Leu140fs)Pathogenic
Immunodeficiency, common variable, 12|not provided
★★☆☆2023→ Residue 140
NM_003998.4(NFKB1):c.159+1G>APathogenic
Immunodeficiency, common variable, 12|not provided
★★☆☆2022
NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter)Pathogenic
Inherited Immunodeficiency Diseases|not provided
★★☆☆2021→ Residue 99
NM_003998.4(NFKB1):c.835+2T>CLikely pathogenic
not provided|Inherited Immunodeficiency Diseases
★★☆☆2019
NM_003998.4(NFKB1):c.830dup (p.Lys278fs)Pathogenic
not provided|Common variable immunodeficiency
★★☆☆2019→ Residue 278
NM_003998.4(NFKB1):c.846del (p.Ile283fs)Pathogenic
Immunodeficiency, common variable, 12
★☆☆☆2026→ Residue 283
NM_003998.4(NFKB1):c.1753-1G>ALikely pathogenic
not provided
★☆☆☆2026
NM_003998.4(NFKB1):c.2239dup (p.Leu747fs)Pathogenic
not provided
★☆☆☆2026→ Residue 747
View on ClinVar ↗
Drug Targets1
EDASALONEXENTPhase III
Nuclear factor NF-kappa-B complex inhibitor
Related Genes
BCL3Protein interaction100%KPNA1Protein interaction100%NFKB2Protein interaction100%TP53Protein interaction100%IKBKGProtein interaction100%NFKBIBProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
55%
Ovary
37%
Liver
28%
Heart
27%
Brain
12%
Gene Interaction Network
Click a node to explore
NFKB1BCL3KPNA1NFKB2TP53IKBKGNFKBIB
PROTEIN STRUCTURE
Preparing viewer…
PDB8TQD · 2.02 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.18]
RankingsWhere NFKB1 stands among ~20K protein-coding genes
  • #15of 20,598
    Most Researched3,393 · top 1%
  • #478of 5,498
    Most Pathogenic Variants157 · top 10%
  • #333of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedNFKB1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.
PMID: 38990428
J Clin Immunol · 2024
1.00
2
Multiomics and Systematic Analyses Reveal the Roles of Hemoglobin and the HIF-1 Pathway in Polycystic Ovary Syndrome.
PMID: 39950870
Adv Sci (Weinh) · 2025
0.90
3
Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.
PMID: 38951460
Am J Clin Dermatol · 2024
0.90
4
NFKB1 as a key player in Tumor biology: from mechanisms to therapeutic implications.
PMID: 39797972
Cell Biol Toxicol · 2025
0.86
5
Analysis of NFKB1 and NFKB2 gene expression in the blood of patients with sudden sensorineural hearing loss.
PMID: 36773447
Int J Pediatr Otorhinolaryngol · 2023
0.80