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NFKB1 (nuclear factor kappa B subunit 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4790
Gene nameGene Name - the full gene name approved by the HGNC.
Nuclear factor kappa B subunit 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NFKB1
SynonymsGene synonyms aliases
CVID12, EBP-1, KBF1, NF-kB, NF-kB1, NF-kappa-B1, NF-kappaB, NF-kappabeta, NFKB-p105, NFKB-p50, NFkappaB
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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

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