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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CVID12
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 IC 16938301
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:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 16938301, 17426251, 18718911
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Common Variable Immunodeficiency common variable immunodeficiency, immunodeficiency, common variable, 12 GenCC
Eczema Eczema GWAS
Hypothyroidism Hypothyroidism GWAS
Biliary Cholangitis Biliary Cholangitis GWAS
Associations from Text Mining
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