ENSG00000109320


Homo sapiens

Features
Gene ID: ENSG00000109320
  
Biological name :NFKB1
  
Synonyms : NFKB1 / nuclear factor kappa B subunit 1 / P19838
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q24
Gene start: 102501329
Gene end: 102617302
  
Corresponding Affymetrix probe sets: 209239_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000378297
Ensembl peptide - ENSP00000420904
Ensembl peptide - ENSP00000469340
Ensembl peptide - ENSP00000426147
Ensembl peptide - ENSP00000424815
Ensembl peptide - ENSP00000424790
Ensembl peptide - ENSP00000423877
Ensembl peptide - ENSP00000226574
NCBI entrez gene - 4790     See in Manteia.
OMIM - 164011
RefSeq - XM_011532008
RefSeq - NM_001165412
RefSeq - NM_001319226
RefSeq - NM_003998
RefSeq - XM_011532006
RefSeq Peptide - NP_003989
RefSeq Peptide - NP_001158884
RefSeq Peptide - NP_001306155
swissprot - D6RC45
swissprot - A0A024RDJ4
swissprot - D6RF93
swissprot - D6RDI9
swissprot - P19838
swissprot - D6RH30
Ensembl - ENSG00000109320
  
Related genetic diseases (OMIM): 616576 - Immunodeficiency, common variable, 12, 616576

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nfkb1ENSDARG00000105261Danio rerio
 NFKB1ENSGALG00000012304Gallus gallus
 Nfkb1ENSMUSG00000028163Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NFKB2 / Q00653 / nuclear factor kappa B subunit 2ENSG0000007715041
REL / Q04864 / REL proto-oncogene, NF-kB subunitENSG0000016292419
RELB / Q01201 / RELB proto-oncogene, NF-kB subunitENSG0000010485618
RELA / Q04206 / RELA proto-oncogene, NF-kB subunitENSG0000017303918


Protein motifs (from Interpro)
Interpro ID Name
 IPR000451  NF-kappa-B/Dorsal
 IPR000488  Death domain
 IPR002110  Ankyrin repeat
 IPR002909  IPT domain
 IPR008967  p53-like transcription factor, DNA-binding
 IPR011029  Death-like domain superfamily
 IPR011539  Rel homology domain (RHD), DNA-binding domain
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR020683  Ankyrin repeat-containing domain
 IPR030492  Rel homology domain, conserved site
 IPR030503  Nuclear factor NF-kappa-B, p105 subunit
 IPR032397  Rel homology dimerisation domain
 IPR033926  NFkappaB IPT domain
 IPR036770  Ankyrin repeat-containing domain superfamily
 IPR037059  Rel homology domain (RHD), DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IGI
 biological_processGO:0001818 negative regulation of cytokine production IEA
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006954 inflammatory response TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IBA
 biological_processGO:0010629 negative regulation of gene expression IDA
 biological_processGO:0010744 positive regulation of macrophage derived foam cell differentiation IC
 biological_processGO:0010884 positive regulation of lipid storage IC
 biological_processGO:0010956 negative regulation of calcidiol 1-monooxygenase activity IDA
 biological_processGO:0010957 negative regulation of vitamin D biosynthetic process IC
 biological_processGO:0031293 membrane protein intracellular domain proteolysis TAS
 biological_processGO:0032269 negative regulation of cellular protein metabolic process IC
 biological_processGO:0032375 negative regulation of cholesterol transport IC
 biological_processGO:0032481 positive regulation of type I interferon production TAS
 biological_processGO:0035994 response to muscle stretch IEA
 biological_processGO:0038061 NIK/NF-kappaB signaling IBA
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045083 negative regulation of interleukin-12 biosynthetic process IEA
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated NAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity TAS
 biological_processGO:0051403 stress-activated MAPK cascade TAS
 biological_processGO:0070498 interleukin-1-mediated signaling pathway TAS
 biological_processGO:0071222 cellular response to lipopolysaccharide IMP
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:0071316 cellular response to nicotine IMP
 biological_processGO:0071347 cellular response to interleukin-1 IEP
 biological_processGO:0071354 cellular response to interleukin-6 IMP
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071359 cellular response to dsRNA IEA
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IMP
 biological_processGO:1900127 positive regulation of hyaluronan biosynthetic process IDA
 biological_processGO:1904385 cellular response to angiotensin IMP
 biological_processGO:2000630 positive regulation of miRNA metabolic process IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005829 cytosol IBA
 cellular_componentGO:0033256 I-kappaB/NF-kappaB complex TAS
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0035580 specific granule lumen TAS
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IBA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0042805 actinin binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IDA


Pathways (from Reactome)
Pathway description
Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Regulated proteolysis of p75NTR
Downstream TCR signaling
NF-kB is activated and signals survival
Senescence-Associated Secretory Phenotype (SASP)
FCERI mediated NF-kB activation
DEx/H-box helicases activate type I IFN and inflammatory cytokines production
PKMTs methylate histone lysines
Transcriptional regulation of white adipocyte differentiation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-1 processing
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
CD209 (DC-SIGN) signaling
CLEC7A/inflammasome pathway
MAP3K8 (TPL2)-dependent MAPK1/3 activation
Neutrophil degranulation
The NLRP3 inflammasome
Interleukin-1 signaling
TRAF6 mediated NF-kB activation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000389 Chronic otitis media 
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 HP:0000979 Purpura 
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 HP:0001531 Failure to thrive in infancy 
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 HP:0001581 Recurrent skin infections "Infections of the skin that happen multiple times." [HPO:curators]
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001878 Hemolytic anemia 
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 HP:0001888 Lymphopenia 
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 HP:0001973 Immune thrombocytopenia 
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 HP:0002023 Anal atresia "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0002090 Pneumonia 
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 HP:0002091 Restrictive lung disease 
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 HP:0002097 Emphysema 
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 HP:0002110 Bronchiectasis 
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 HP:0002633 Vasculitis 
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0002716 Lymphadenopathy 
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 HP:0002721 Immunodeficiency 
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 HP:0002829 Arthralgia 
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 HP:0002837 Bronchitis 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003828 Variable expressivity 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0005425 Recurrent sinopulmonary infections 
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 HP:0006510 Chronic obstructive pulmonary disease 
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 HP:0006783 Posterior pharyngeal cleft 
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 HP:0100723 Gastrointestinal stroma tumor 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000064300 NGFR / P08138 / nerve growth factor receptor  / complex / reaction
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / complex / reaction
 ENSG00000100906 NFKBIA / P25963 / NFKB inhibitor alpha  / complex
 ENSG00000103037 SETD6 / Q8TBK2 / SET domain containing 6  / reaction
 ENSG00000109320 NFKB1 / P19838 / nuclear factor kappa B subunit 1  / complex
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex / reaction
 ENSG00000107968 MAP3K8 / P41279 / mitogen-activated protein kinase kinase kinase 8  / complex / reaction
 ENSG00000072803 FBXW11 / Q9UKB1 / F-box and WD repeat domain containing 11  / complex / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000173039 RELA / Q04206 / RELA proto-oncogene, NF-kB subunit  / complex
 ENSG00000162924 REL / Q04864 / REL proto-oncogene, NF-kB subunit  / complex
 ENSG00000146232 NFKBIE / O00221 / NFKB inhibitor epsilon  / complex
 ENSG00000104825 NFKBIB / Q15653 / NFKB inhibitor beta  / complex
 ENSG00000168884 TNIP2 / Q8NFZ5 / TNFAIP3 interacting protein 2  / complex / reaction
 ENSG00000055130 CUL1 / Q13616 / cullin 1  / complex / reaction
 ENSG00000113558 SKP1 / P63208 / S-phase kinase associated protein 1  / complex / reaction
 ENSG00000166167 BTRC / Q9Y297 / beta-transducin repeat containing E3 ubiquitin protein ligase  / complex / reaction
 ENSG00000172216 CEBPB / P17676 / CCAAT/enhancer binding protein beta  / complex / reaction
 ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha  / reaction
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / reaction
 ENSG00000175104 TRAF6 / Q9Y4K3 / TNF receptor associated factor 6  / complex / reaction
 ENSG00000142875 P22694 / PRKACB / protein kinase cAMP-activated catalytic subunit beta  / reaction
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / reaction
 ENSG00000165059 P22612 / PRKACG / protein kinase cAMP-activated catalytic subunit gamma  / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / reaction
 ENSG00000100784 O75582 / RPS6KA5 / ribosomal protein S6 kinase A5  / reaction






 

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