NFKB1

 Nuclear factor NF-kappa-B p105 subunit is a protein that in humans is encoded by the NFKB1 gene.^[5]

NFKB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MDI, 1MDJ, 1MDK, 1NFI, 1SVC, 2DBF, 2O61, 3GUT
Identifiers
Aliases	NFKB1, EBP-1, KBF1, NF-kB1, NF-kappa-B, NF-kappaB, NFKB-p105, NFKB-p50, NFkappaB, p105, p50, CVID12, nuclear factor kappa B subunit 1, NF-kappa-B1, NF-kB, NF-kappabeta
External IDs	OMIM: 164011 MGI: 97312 HomoloGene: 2971 GeneCards: NFKB1
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q24 Start 102,501,331 bp[1] End 102,617,302 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 G3|3 62.82 cM Start 135,584,655 bp[2] End 135,691,547 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • RNA polymerase II regulatory region sequence-specific DNA binding • transcription factor binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • protein homodimerization activity • chromatin binding • GO:0001948 protein binding • DNA binding • sequence-specific DNA binding • actinin binding • identical protein binding • transcription regulatory region sequence-specific DNA binding • protein heterodimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cytoplasm • mitochondrion • cell nucleus • I-kappaB/NF-kappaB complex • nucleoplasm • extracellular region • cytosol • secretory granule lumen • specific granule lumen Biological process • negative regulation of cellular protein metabolic process • cellular response to interleukin-6 • positive regulation of canonical Wnt signaling pathway • regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • negative regulation of vitamin D biosynthetic process • Fc-epsilon receptor signaling pathway • cellular response to mechanical stimulus • NIK/NF-kappaB signaling • stress-activated MAPK cascade • negative regulation of inflammatory response • apoptotic process • response to muscle stretch • regulation of transcription, DNA-templated • stimulatory C-type lectin receptor signaling pathway • transcription, DNA-templated • positive regulation of transcription, DNA-templated • negative regulation of calcidiol 1-monooxygenase activity • positive regulation of hyaluronan biosynthetic process • membrane protein intracellular domain proteolysis • inflammatory response • I-kappaB kinase/NF-kappaB signaling • positive regulation of miRNA metabolic process • cellular response to nicotine • negative regulation of transcription from RNA polymerase II promoter • positive regulation of macrophage derived foam cell differentiation • positive regulation of NF-kappaB transcription factor activity • negative regulation of cholesterol transport • negative regulation of transcription, DNA-templated • negative regulation of cytokine production • positive regulation of lipid storage • cellular response to dsRNA • T cell receptor signaling pathway • positive regulation of type I interferon production • positive regulation of transcription from RNA polymerase II promoter • signal transduction • cellular response to lipopolysaccharide • cellular response to interleukin-1 • innate immune system • negative regulation of apoptotic process • negative regulation of gene expression • neutrophil degranulation • cellular response to tumor necrosis factor • cellular response to angiotensin • interleukin-1-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4790	18033
Ensembl	ENSG00000109320	ENSMUSG00000028163
UniProt	P19838	P25799
RefSeq (mRNA)	NM_001165412 NM_003998 NM_001319226 NM_001382625 NM_001382626 NM_001382627 NM_001382628	NM_008689
RefSeq (protein)	NP_001158884 NP_001306155 NP_003989 NP_001369554 NP_001369555 NP_001369556 NP_001369557 NP_001158884.1 NP_001306155.1	NP_032715
Location (UCSC)	Chr 4: 102.5 – 102.62 Mb	Chr 3: 135.58 – 135.69 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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-kappaB (NF-κB) protein complex. NF-κB is a transcription factor that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NF-κB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions; over 200 known genes are targets of NF-κB in various cell types, under specific conditions. Inappropriate activation of NF-κB has been associated with a number of inflammatory diseases while persistent inhibition of NF-κB leads to inappropriate immune cell development or delayed cell growth.^[6]

Model organismsEdit

Nfkb1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Abnormal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal[7]
Clinical chemistry	Abnormal[8]
Plasma immunoglobulins	Abnormal
Haematology	Abnormal[9]
Peripheral blood lymphocytes	Abnormal[10]
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Abnormal[11]
All tests and analysis from[12][13]

Model organisms have been used in the study of NFKB1 function. A conditional knockout mouse line, called Nfkb1^{tm1a(KOMP)Wtsi[14][15]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[12][19] Twenty five tests were carried out on mutant mice and six significant abnormalities were observed.^[12] Female homozygotes had a decreased respiratory quotient, increased circulating alkaline phosphatase level and increased leukocyte cell number. Male homozygotes showed an increased susceptibility to Salmonella infection, while homozygotes of both sex had decreased IgG1 and decreased regulatory T cell and NK cell numbers.^[12]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.