NFKB1 Chromosome 4
Nuclear factor kappa B subunit 1
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What This Gene Does
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-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing"
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000109320
Associated Conditions (10)
Immunodeficiency
common variable
12
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Squamous cell lung carcinoma
NFKB1-related disorder
Inherited Immunodeficiency Diseases
Common variable immunodeficiency
Primary ciliary dyskinesia 3
Key Variants
RS1354534120
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS141844350
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143817570
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS143882681
Conflicting classifications of pathogenicity
NFKB1-related disorder, NFKB1-related disorder
Health Risk
RS146936581
Conflicting classifications of pathogenicity
Health Risk
RS201395077
Conflicting classifications of pathogenicity
Inborn genetic diseases, Immunodeficiency, common variable
Health Risk
RS201874528
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS2149203552
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS375088091
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS4648086
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS748763015
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 12
Health Risk
RS750825184
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (127)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1302123106 | Health Risk | Pathogenic | — |
| RS1387606271 | Health Risk | Pathogenic | Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS1410266677 | Health Risk | Pathogenic | — |
| RS1465687986 | Health Risk | Pathogenic | — |
| RS1553934187 | Health Risk | Pathogenic | — |
| RS1553937650 | Health Risk | Pathogenic | — |
| RS1553938888 | Health Risk | Pathogenic | — |
| RS1560679469 | Health Risk | Pathogenic | Immunodeficiency, common variable, 12 |
| RS1578771120 | Health Risk | Pathogenic | Common variable immunodeficiency, Immunodeficiency, common variable |
| RS1578771197 | Health Risk | Pathogenic | Common variable immunodeficiency, Common variable immunodeficiency |
| RS1578771211 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1578793298 | Health Risk | Pathogenic | Common variable immunodeficiency, Common variable immunodeficiency |
| RS1578795536 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1578805410 | Health Risk | Pathogenic | — |
| RS1578809101 | Health Risk | Pathogenic | Common variable immunodeficiency, Inherited Immunodeficiency Diseases, Common variable immunodeficiency |
| RS1578811073 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Immunodeficiency, common variable |
| RS1578811245 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1724867456 | Health Risk | Pathogenic | Immunodeficiency, common variable, 12 |
| RS1724875502 | Health Risk | Pathogenic | Immunodeficiency, common variable, 12 |
| RS1724876868 | Health Risk | Pathogenic | — |
| RS1725580228 | Health Risk | Pathogenic | — |
| RS2149123423 | Health Risk | Pathogenic | Immunodeficiency, common variable, 12 |
| RS2149127930 | Health Risk | Pathogenic | — |
| RS2149168276 | Health Risk | Pathogenic | — |
| RS2149181831 | Health Risk | Pathogenic | Immunodeficiency, common variable, 12 |
| RS2149181883 | Health Risk | Pathogenic | — |
| RS2149181968 | Health Risk | Pathogenic | — |
| RS2149190155 | Health Risk | Pathogenic | — |
| RS2149192665 | Health Risk | Pathogenic | Immunodeficiency, common variable, 12 |
| RS2149192697 | Health Risk | Pathogenic | — |
| RS2149203324 | Health Risk | Pathogenic | — |
| RS2149203505 | Health Risk | Pathogenic | — |
| RS2149206488 | Health Risk | Pathogenic | — |
| RS2149208637 | Health Risk | Pathogenic | — |
| RS2149227839 | Health Risk | Pathogenic | — |
| RS2149230078 | Health Risk | Pathogenic | — |
| RS2476200380 | Health Risk | Pathogenic | — |
| RS2476350261 | Health Risk | Pathogenic | — |
| RS2476350553 | Health Risk | Pathogenic | — |
| RS2476351116 | Health Risk | Pathogenic | — |
| RS2476351129 | Health Risk | Pathogenic | — |
| RS2476351160 | Health Risk | Pathogenic | — |
| RS2476402911 | Health Risk | Pathogenic | — |
| RS2476404144 | Health Risk | Pathogenic | — |
| RS2476415372 | Health Risk | Pathogenic | — |
| RS2476415934 | Health Risk | Pathogenic | — |
| RS2476425600 | Health Risk | Pathogenic | — |
| RS2476435904 | Health Risk | Pathogenic | — |
| RS2476487058 | Health Risk | Pathogenic | — |
| RS2476487087 | Health Risk | Pathogenic | — |