ENSG00000100906


Homo sapiens

Features
Gene ID: ENSG00000100906
  
Biological name :NFKBIA
  
Synonyms : NFKBIA / NFKB inhibitor alpha / P25963
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q13.2
Gene start: 35401511
Gene end: 35404749
  
Corresponding Affymetrix probe sets: 201502_s_at (Human Genome U133 Plus 2.0 Array)   231699_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450514
Ensembl peptide - ENSP00000450537
Ensembl peptide - ENSP00000451257
Ensembl peptide - ENSP00000451281
Ensembl peptide - ENSP00000216797
NCBI entrez gene - 4792     See in Manteia.
OMIM - 164008
RefSeq - NM_020529
RefSeq Peptide - NP_065390
swissprot - P25963
swissprot - G3V286
swissprot - G3V2A2
swissprot - G3V3I4
swissprot - G3V3K1
Ensembl - ENSG00000100906
  
Related genetic diseases (OMIM): 612132 - Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132

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
 nfkbiaaENSDARG00000005481Danio rerio
 nfkbiabENSDARG00000007693Danio rerio
 NFKBIAENSGALG00000027864Gallus gallus
 NfkbiaENSMUSG00000021025Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NFKBIE / O00221 / NFKB inhibitor epsilonENSG0000014623233
NFKBIB / Q15653 / NFKB inhibitor betaENSG0000010482532
BCL3 / P20749 / B cell CLL/lymphoma 3ENSG0000006939926
NFKBIZ / Q9BYH8 / NFKB inhibitor zetaENSG0000014480223
NFKBID / Q8NI38 / NFKB inhibitor deltaENSG0000016760420


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000060 protein import into nucleus, translocation IEA
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IDA
 biological_processGO:0007253 cytoplasmic sequestering of NF-kappaB IMP
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010745 negative regulation of macrophage derived foam cell differentiation IMP
 biological_processGO:0010875 positive regulation of cholesterol efflux IMP
 biological_processGO:0010888 negative regulation of lipid storage IMP
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0031663 lipopolysaccharide-mediated signaling pathway IEA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0032270 positive regulation of cellular protein metabolic process IMP
 biological_processGO:0032495 response to muramyl dipeptide IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway IDA
 biological_processGO:0034142 toll-like receptor 4 signaling pathway IEA
 biological_processGO:0035994 response to muscle stretch IEA
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042994 cytoplasmic sequestering of transcription factor IDA
 biological_processGO:0043066 negative regulation of apoptotic process TAS
 biological_processGO:0043330 response to exogenous dsRNA IEA
 biological_processGO:0043392 negative regulation of DNA binding NAS
 biological_processGO:0045638 negative regulation of myeloid cell differentiation IEA
 biological_processGO:0045746 negative regulation of Notch signaling pathway IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050729 positive regulation of inflammatory response IDA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity TAS
 biological_processGO:0070417 cellular response to cold NAS
 biological_processGO:0070427 nucleotide-binding oligomerization domain containing 1 signaling pathway IEA
 biological_processGO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway IEA
 biological_processGO:0070498 interleukin-1-mediated signaling pathway TAS
 biological_processGO:0071345 cellular response to cytokine stimulus IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0097421 liver regeneration IEA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0033256 I-kappaB/NF-kappaB complex TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008134 transcription factor binding TAS
 molecular_functionGO:0008139 nuclear localization sequence binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0031072 heat shock protein binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0051059 NF-kappaB binding IDA


Pathways (from Reactome)
Pathway description
Activation of NF-kappaB in B cells
RIP-mediated NFkB activation via ZBP1
Downstream TCR signaling
NF-kB is activated and signals survival
FCERI mediated NF-kB activation
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
SUMOylation of immune response proteins
IkBA variant leads to EDA-ID
CLEC7A (Dectin-1) signaling
Ub-specific processing proteases
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:0000668 Hypodontia "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators]
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 HP:0000698 Conical teeth 
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 HP:0000966 Hypohidrosis "Abnormally diminished capacity to sweat." [HPO:curators]
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 HP:0000970 Anhidrosis "Inability to sweat." [HPO:curators]
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002046 Intolerance to heat and fever 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0003593 Early onset 
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 HP:0004798 Gastrointestinal infections 
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 HP:0007476 Anhidrotic ectodermal dysplasia 
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 HP:0008070 Sparse hair 
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 HP:0011120 Saddle nose "A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum." [HPO:probinson]
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 HP:0011136 Aplasia of the sweat glands "Absence of the `sweat glands` (FMA:59152)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / reaction / complex
 ENSG00000102226 USP11 / P51784 / ubiquitin specific peptidase 11  / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex
 ENSG00000077150 NFKB2 / Q00653 / nuclear factor kappa B subunit 2  / complex
 ENSG00000109320 NFKB1 / P19838 / nuclear factor kappa B subunit 1  / complex
 ENSG00000173039 RELA / Q04206 / RELA proto-oncogene, NF-kB subunit  / complex
 ENSG00000162924 REL / Q04864 / REL proto-oncogene, NF-kB subunit  / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000072803 FBXW11 / Q9UKB1 / F-box and WD repeat domain containing 11  / reaction / complex
 ENSG00000104365 IKBKB / O14920 / inhibitor of nuclear factor kappa B kinase subunit beta  / 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  / reaction / complex
 ENSG00000213341 CHUK / O15111 / conserved helix-loop-helix ubiquitous kinase  / reaction
 ENSG00000269335 IKBKG / Q9Y6K9 / inhibitor of nuclear factor kappa B kinase subunit gamma  / reaction






 

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