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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Plasma proteins RAS pathway related proteins Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q24
Chromosome location (bp)
102501330 - 102617302
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo-or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000165[MAPK cascade] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001818[negative regulation of cytokine production] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0007254[JNK cascade] GO:0010467[gene expression] GO:0010605[negative regulation of macromolecule metabolic process] GO:0010629[negative regulation of gene expression] GO:0010744[positive regulation of macrophage derived foam cell differentiation] GO:0010884[positive regulation of lipid storage] GO:0010956[negative regulation of calcidiol 1-monooxygenase activity] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0032375[negative regulation of cholesterol transport] GO:0032695[negative regulation of interleukin-12 production] GO:0033256[I-kappaB/NF-kappaB complex] GO:0034774[secretory granule lumen] GO:0035580[specific granule lumen] GO:0035994[response to muscle stretch] GO:0042802[identical protein binding] GO:0042805[actinin binding] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050728[negative regulation of inflammatory response] GO:0050853[B cell receptor signaling pathway] GO:0051248[negative regulation of protein metabolic process] GO:0060056[mammary gland involution] GO:0060261[positive regulation of transcription initiation by RNA polymerase II] GO:0071159[NF-kappaB complex] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071316[cellular response to nicotine] GO:0071347[cellular response to interleukin-1] GO:0071354[cellular response to interleukin-6] GO:0071356[cellular response to tumor necrosis factor] GO:0071359[cellular response to dsRNA] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097398[cellular response to interleukin-17] GO:0098586[cellular response to virus] GO:1900127[positive regulation of hyaluronan biosynthetic process] GO:1904385[cellular response to angiotensin] GO:2000630[positive regulation of miRNA metabolic process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0010605[negative regulation of macromolecule metabolic process] GO:0010629[negative regulation of gene expression] GO:0010744[positive regulation of macrophage derived foam cell differentiation] GO:0010884[positive regulation of lipid storage] GO:0010956[negative regulation of calcidiol 1-monooxygenase activity] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0032375[negative regulation of cholesterol transport] GO:0033256[I-kappaB/NF-kappaB complex] GO:0034774[secretory granule lumen] GO:0035580[specific granule lumen] GO:0042802[identical protein binding] GO:0042805[actinin binding] GO:0043066[negative regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051248[negative regulation of protein metabolic process] GO:0071159[NF-kappaB complex] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071316[cellular response to nicotine] GO:0071347[cellular response to interleukin-1] GO:0071354[cellular response to interleukin-6] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1900127[positive regulation of hyaluronan biosynthetic process] GO:1904385[cellular response to angiotensin] GO:2000630[positive regulation of miRNA metabolic process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007165[signal transduction] GO:0010605[negative regulation of macromolecule metabolic process] GO:0010629[negative regulation of gene expression] GO:0010744[positive regulation of macrophage derived foam cell differentiation] GO:0010884[positive regulation of lipid storage] GO:0010956[negative regulation of calcidiol 1-monooxygenase activity] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0032375[negative regulation of cholesterol transport] GO:0033256[I-kappaB/NF-kappaB complex] GO:0034774[secretory granule lumen] GO:0035580[specific granule lumen] GO:0042802[identical protein binding] GO:0042805[actinin binding] GO:0043066[negative regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051248[negative regulation of protein metabolic process] GO:0071159[NF-kappaB complex] GO:0071222[cellular response to lipopolysaccharide] GO:0071260[cellular response to mechanical stimulus] GO:0071316[cellular response to nicotine] GO:0071347[cellular response to interleukin-1] GO:0071354[cellular response to interleukin-6] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1900127[positive regulation of hyaluronan biosynthetic process] GO:1904385[cellular response to angiotensin] GO:2000630[positive regulation of miRNA metabolic process]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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