Gene Gene information from NCBI Gene database.
Entrez ID 4790
Gene name Nuclear factor kappa B subunit 1
Gene symbol NFKB1
Synonyms (NCBI Gene)
CVID12EBP-1KBF1NF-kBNF-kB1NF-kappa-B1NF-kappaBNF-kappabetaNFKB-p105NFKB-p50NFkappaB
Chromosome 4
Chromosome location 4q24
Summary 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.
25
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.
191
miRTarBase ID miRNA Experiments Reference
MIRT003193 hsa-miR-9-5p qRT-PCRLuciferase reporter assayWestern 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 assayqRT-PCRWestern blot 20102618
Transcription factors Transcription factors information provided by TRRUST V2 database.
41
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
109
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164011 7794 ENSG00000109320
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
140
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Common variable immunodeficiency Likely pathogenic; Pathogenic rs2476539565, rs1578790573, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101 RCV004018000
RCV001027602
RCV001027589
RCV001027591
RCV001027592
RCV001027598
RCV001027594
Immunodeficiency, common variable, 12 Pathogenic; Likely pathogenic rs1724867456, rs2149123423, rs2149181831, rs2149192665, rs2149168346, rs2149222635, rs2149192634, rs2476581538, rs869320688, rs869320689, rs869320754, rs2149203291, rs2476539565, rs2476562023, rs2476436133
View all (11 more)
RCV001327993
RCV001374703
RCV001374705
RCV001374708
RCV002250147
RCV002272783
RCV002279898
RCV002466909
RCV000192693
RCV000194108
RCV000195130
RCV003142251
RCV003990407
RCV003991936
RCV004577121
RCV000611708
RCV000761318
RCV000761319
RCV005253121
RCV001374707
RCV001262753
RCV001374706
RCV003142035
RCV001253202
RCV001262328
RCV001263439
Inherited Immunodeficiency Diseases Likely pathogenic; Pathogenic rs773694113, rs869320689, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1578735709 RCV001027605
RCV001027603
RCV001027600
RCV001027601
RCV001027604
RCV001027593
RCV001027595
RCV001027596
RCV001027599
RCV001027597
NFKB1-related disorder Likely pathogenic rs2476446922, rs2476350193, rs2476178924 RCV003402444
RCV003391550
RCV003402810
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs4648051 RCV005916592
Familial cancer of breast Benign rs230525 RCV005915562
Gastric cancer Benign; Likely benign; Uncertain significance rs4648051, rs561940368, rs4648099, rs199574943 RCV005916594
RCV005920954
RCV005908482
RCV005912260
High myopia Uncertain significance rs1425802039 RCV000785730
Associations from Text MiningDisease 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