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Search Result

Gene id

4790

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

NFKB1 Gene UCSC Ensembl

Aliases

CVID12, EBP-1, KBF1, NF-kB1, NF-kappa-B, NF-kappaB, NFKB-p105, NFKB-p50, NFkappaB, p105, p50

Gene name

nuclear factor kappa B subunit 1

Alternate names

nuclear factor NF-kappa-B p105 subunit, DNA-binding factor KBF1, NF-kappabeta, nuclear factor NF-kappa-B p50 subunit, nuclear factor kappa-B DNA binding subunit, nuclear factor of kappa light polypeptide gene enhancer in B-cells 1,

Gene location

4q24 (102501328: 102617301) Exons: 26 NC_000004.12

Gene summary(Entrez)

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. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]

OMIM

164011

SNPs

rs28362491

Strand:    Allele origin:   Allele change: -/ATTG   Mutation type: in-del

CM000666.2   g.102500998_102501001delATTG
NC_000004.11   g.103422155_103422158delATTG
NC_000004.12   g.102500998_102501001delATTG
NG_050628.1   g.4670_4673delATTG
NM_001165412.1   c.-798_-795delATTG
NM_001319226.1   c.-1177_-1174delATTG
NM_003998.3   c.-798_-795delATTG
NR_136202.1   n.48+1438_48+1441delCAAT

Protein Summary

Protein general information

P19838

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]

Length: 968 Mass: 105,356

Sequence

MAEDDPYLGRPEQMFHLDPSLTHTIFNPEVFQPQMALPTDGPYLQILEQPKQRGFRFRYVCEGPSHGGLPGASSE
KNKKSYPQVKICNYVGPAKVIVQLVTNGKNIHLHAHSLVGKHCEDGICTVTAGPKDMVVGFANLGILHVTKKKVF
ETLEARMTEACIRGYNPGLLVHPDLAYLQAEGGGDRQLGDREKELIRQAALQQTKEMDLSVVRLMFTAFLPDSTG
SFTRRLEPVVSDAIYDSKAPNASNLKIVRMDRTAGCVTGGEEIYLLCDKVQKDDIQIRFYEEEENGGVWEGFGDF
SPTDVHRQFAIVFKTPKYKDINITKPASVFVQLRRKSDLETSEPKPFLYYPEIKDKEEVQRKRQKLMPNFSDSFG
GGSGAGAGGGGMFGSGGGGGGTGSTGPGYSFPHYGFPTYGGITFHPGTTKSNAGMKHGTMDTESKKDPEGCDKSD
DKNTVNLFGKVIETTEQDQEPSEATVGNGEVTLTYATGTKEESAGVQDNLFLEKAMQLAKRHANALFDYAVTGDV
KMLLAVQRHLTAVQDENGDSVLHLAIIHLHSQLVRDLLEVTSGLISDDIINMRNDLYQTPLHLAVITKQEDVVED
LLRAGADLSLLDRLGNSVLHLAAKEGHDKVLSILLKHKKAALLLDHPNGDGLNAIHLAMMSNSLPCLLLLVAAGA
DVNAQEQKSGRTALHLAVEHDNISLAGCLLLEGDAHVDSTTYDGTTPLHIAAGRGSTRLAALLKAAGADPLVENF
EPLYDLDDSWENAGEDEGVVPGTTPLDMATSWQVFDILNGKPYEPEFTSDDLLAQGDMKQLAEDVKLQLYKLLEI
PDPDKNWATLAQKLGLGILNNAFRLSPAPSKTLMDNYEVSGGTVRELVEALRQMGYTEAIEVIQAASSPVKTTSQ
AHSLPLSPASTRQQIDELRDSDSVCDSGVETSFRKLSFTESLTSGASLLTLNKMPHDYGQEGPLEGKI

Structural information

Protein Domains	RHD. (42-367) Death. (805-892)
Motifs	Nuclear localization(360-365)
Interpro:	IPR002110 IPR020683 IPR011029 IPR000488 IPR013783 IPR014756 IPR002909 IPR033926 IPR030503 IPR000451 IPR008967 IPR030492 IPR032397 IPR011539
Prosite:	PS50297 PS50088 PS01204 PS50254
Pfam:	PF12796 PF00531 PF16179 PF00554
CDD:	cd01177
PDB:	1MDI 1MDJ 1MDK 1NFI 1SVC 2DBF 2O61 3GUT
PDBsum:	1MDI 1MDJ 1MDK 1NFI 1SVC 2DBF 2O61 3GUT
DIP:	106
MINT:	85658
STRING:	ENSP00000226574;

Other Databases

GeneCards: NFKB1; Malacards: NFKB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IC	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0000975	regulatory region DNA bin ding	IDA	molecular_function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IDA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	IDA	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0002223	stimulatory C-type lectin receptor signaling pathw ay	TAS	biological_process
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005829	cytosol	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0006979	response to oxidative str ess	IEA	biological_process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IBA	biological_process
GO:0008134	transcription factor bind ing	IDA	molecular_function
GO:0010744	positive regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010884	positive regulation of li pid storage	IC	biological_process
GO:0010956	negative regulation of ca lcidiol 1-monooxygenase a ctivity	IDA	biological_process
GO:0010957	negative regulation of vi tamin D biosynthetic proc ess	IC	biological_process
GO:0031072	heat shock protein bindin g	IEA	molecular_function
GO:0031293	membrane protein intracel lular domain proteolysis	TAS	biological_process
GO:0032269	negative regulation of ce llular protein metabolic process	IC	biological_process
GO:0032375	negative regulation of ch olesterol transport	IC	biological_process
GO:0032481	positive regulation of ty pe I interferon productio n	TAS	biological_process
GO:0033256	I-kappaB/NF-kappaB comple x	TAS	cellular_component
GO:0035994	response to muscle stretc h	IEA	biological_process
GO:0038061	NIK/NF-kappaB signaling	IBA	biological_process
GO:0038095	Fc-epsilon receptor signa ling pathway	TAS	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042805	actinin binding	IPI	molecular_function
GO:0043005	neuron projection	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045083	negative regulation of in terleukin-12 biosynthetic process	IEA	biological_process
GO:0045087	innate immune response	IBA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046688	response to copper ion	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0050728	negative regulation of in flammatory response	IEA	biological_process
GO:0050852	T cell receptor signaling pathway	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	TAS	biological_process
GO:0051403	stress-activated MAPK cas cade	TAS	biological_process
GO:0071222	cellular response to lipo polysaccharide	IMP	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071316	cellular response to nico tine	IMP	biological_process
GO:0071322	cellular response to carb ohydrate stimulus	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEP	biological_process
GO:0071354	cellular response to inte rleukin-6	IMP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEA	biological_process
GO:0071359	cellular response to dsRN A	IEA	biological_process
GO:0071375	cellular response to pept ide hormone stimulus	IMP	biological_process
GO:0090263	positive regulation of ca nonical Wnt signaling pat hway	IMP	biological_process
GO:1900127	positive regulation of hy aluronan biosynthetic pro cess	IDA	biological_process
GO:1904630	cellular response to dite rpene	IEA	biological_process
GO:1904632	cellular response to gluc oside	IEA	biological_process
GO:1990416	cellular response to brai n-derived neurotrophic fa ctor stimulus	IEA	biological_process
GO:2000630	positive regulation of mi RNA metabolic process	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IC	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0000975	regulatory region DNA bin ding	IDA	molecular_function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular_function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IDA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	IDA	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0001818	negative regulation of cy tokine production	IEA	biological_process
GO:0002223	stimulatory C-type lectin receptor signaling pathw ay	TAS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006915	apoptotic process	IEA	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0006979	response to oxidative str ess	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IBA	biological_process
GO:0008134	transcription factor bind ing	IDA	molecular_function
GO:0009617	response to bacterium	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010744	positive regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010884	positive regulation of li pid storage	IC	biological_process
GO:0010956	negative regulation of ca lcidiol 1-monooxygenase a ctivity	IDA	biological_process
GO:0010957	negative regulation of vi tamin D biosynthetic proc ess	IC	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0031072	heat shock protein bindin g	IEA	molecular_function
GO:0031293	membrane protein intracel lular domain proteolysis	TAS	biological_process
GO:0032269	negative regulation of ce llular protein metabolic process	IC	biological_process
GO:0032375	negative regulation of ch olesterol transport	IC	biological_process
GO:0032481	positive regulation of ty pe I interferon productio n	TAS	biological_process
GO:0033256	I-kappaB/NF-kappaB comple x	TAS	cellular_component
GO:0035994	response to muscle stretc h	IEA	biological_process
GO:0038061	NIK/NF-kappaB signaling	IBA	biological_process
GO:0038095	Fc-epsilon receptor signa ling pathway	TAS	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042805	actinin binding	IPI	molecular_function
GO:0043005	neuron projection	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043234	protein complex	IEA	cellular_component
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045083	negative regulation of in terleukin-12 biosynthetic process	IEA	biological_process
GO:0045087	innate immune response	IBA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046688	response to copper ion	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0050728	negative regulation of in flammatory response	IEA	biological_process
GO:0050852	T cell receptor signaling pathway	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	TAS	biological_process
GO:0051403	stress-activated MAPK cas cade	TAS	biological_process
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:0071222	cellular response to lipo polysaccharide	IMP	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071316	cellular response to nico tine	IMP	biological_process
GO:0071322	cellular response to carb ohydrate stimulus	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEA	biological_process
GO:0071347	cellular response to inte rleukin-1	IEP	biological_process
GO:0071354	cellular response to inte rleukin-6	IMP	biological_process
GO:0071356	cellular response to tumo r necrosis factor	IEA	biological_process
GO:0071359	cellular response to dsRN A	IEA	biological_process
GO:0071375	cellular response to pept ide hormone stimulus	IMP	biological_process
GO:0071407	cellular response to orga nic cyclic compound	IEA	biological_process
GO:0090263	positive regulation of ca nonical Wnt signaling pat hway	IMP	biological_process
GO:1900127	positive regulation of hy aluronan biosynthetic pro cess	IDA	biological_process
GO:1901653	cellular response to pept ide	IEA	biological_process
GO:1904630	cellular response to dite rpene	IEA	biological_process
GO:1904632	cellular response to gluc oside	IEA	biological_process
GO:1990416	cellular response to brai n-derived neurotrophic fa ctor stimulus	IEA	biological_process
GO:2000630	positive regulation of mi RNA metabolic process	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IC	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0000975	regulatory region DNA bin ding	IDA	molecular_function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IDA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	IDA	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0002223	stimulatory C-type lectin receptor signaling pathw ay	TAS	biological_process
GO:0003682	chromatin binding	IBA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005739	mitochondrion	IDA	cellular_component
GO:0005829	cytosol	IBA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IBA	biological_process
GO:0008134	transcription factor bind ing	IDA	molecular_function
GO:0010744	positive regulation of ma crophage derived foam cel l differentiation	IC	biological_process
GO:0010884	positive regulation of li pid storage	IC	biological_process
GO:0010956	negative regulation of ca lcidiol 1-monooxygenase a ctivity	IDA	biological_process
GO:0010957	negative regulation of vi tamin D biosynthetic proc ess	IC	biological_process
GO:0031293	membrane protein intracel lular domain proteolysis	TAS	biological_process
GO:0032269	negative regulation of ce llular protein metabolic process	IC	biological_process
GO:0032375	negative regulation of ch olesterol transport	IC	biological_process
GO:0032481	positive regulation of ty pe I interferon productio n	TAS	biological_process
GO:0033256	I-kappaB/NF-kappaB comple x	TAS	cellular_component
GO:0038061	NIK/NF-kappaB signaling	IBA	biological_process
GO:0038095	Fc-epsilon receptor signa ling pathway	TAS	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042805	actinin binding	IPI	molecular_function
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045087	innate immune response	IBA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	NAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IDA	molecular_function
GO:0050852	T cell receptor signaling pathway	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	TAS	biological_process
GO:0051403	stress-activated MAPK cas cade	TAS	biological_process
GO:0071222	cellular response to lipo polysaccharide	IMP	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0071316	cellular response to nico tine	IMP	biological_process
GO:0071347	cellular response to inte rleukin-1	IEP	biological_process
GO:0071354	cellular response to inte rleukin-6	IMP	biological_process
GO:0071375	cellular response to pept ide hormone stimulus	IMP	biological_process
GO:0090263	positive regulation of ca nonical Wnt signaling pat hway	IMP	biological_process
GO:1900127	positive regulation of hy aluronan biosynthetic pro cess	IDA	biological_process
GO:2000630	positive regulation of mi RNA metabolic process	IMP	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa05206  MicroRNAs in cancer
hsa05166  HTLV-I infection
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05152  Tuberculosis
hsa05168  Herpes simplex infection
hsa05169  Epstein-Barr virus infection
hsa05418  Fluid shear stress and atherosclerosis
hsa05161  Hepatitis B
hsa04062  Chemokine signaling pathway
hsa05164  Influenza A
hsa05145  Toxoplasmosis
hsa05202  Transcriptional misregulation in cancer
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05203  Viral carcinogenesis
hsa04210  Apoptosis
hsa04621  NOD-like receptor signaling pathway
hsa04659  Th17 cell differentiation
hsa04668  TNF signaling pathway
hsa05142  Chagas disease
hsa05215  Prostate cancer
hsa05162  Measles
hsa04657  IL-17 signaling pathway
hsa04380  Osteoclast differentiation
hsa04932  Non-alcoholic fatty liver disease
hsa04024  cAMP signaling pathway
hsa04066  HIF-1 signaling pathway
hsa05160  Hepatitis C
hsa05321  Inflammatory bowel disease
hsa04722  Neurotrophin signaling pathway
hsa04620  Toll-like receptor signaling pathway
hsa05146  Amoebiasis
hsa04660  T cell receptor signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa05140  Leishmaniasis
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05222  Small cell lung cancer
hsa04917  Prolactin signaling pathway
hsa05133  Pertussis
hsa04064  NF-kappa B signaling pathway
hsa04931  Insulin resistance
hsa04211  Longevity regulating pathway
hsa05134  Legionellosis
hsa05132  Salmonella infection
hsa04071  Sphingolipid signaling pathway
hsa04920  Adipocytokine signaling pathway
hsa05221  Acute myeloid leukemia
hsa05120  Epithelial cell signaling in Helicobacter pylori infection
hsa04662  B cell receptor signaling pathway
hsa05131  Shigellosis
hsa04622  RIG-I-like receptor signaling pathway
hsa04623  Cytosolic DNA-sensing pathway
hsa01523  Antifolate resistance
hsa05030  Cocaine addiction

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Ankylosing spondylitis	PMID: 16206345
Behcet's disease	PMID: 18616724
Biliary primary cirrhosis	PMID: 21399635
Cancer	PMID: 16387424
Cardiomyopathy	PMID: 16465659
Celiac disease	PMID: 16635909
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Crohn's disease	PMID: 13680285
Dermatitis	PMID: 17117949
Diabetes	PMID: 19070859
Ectopic endometriosis	PMID: 18710704
Endometriosis	PMID: 24133578
Endometriosis	PMID: 20218898
HELLP syndrome	PMID: 23905607
Hydrosalpinx	PMID: 23061681
Implantation failure	PMID: 19955102
Inflammatory bowel disease	PMID: 17538633
Endometriosis	INFBASE24901401
Female infertility	INFBASE22902396
Ectopic endometriosis	INFBASE18710704
Peritoneal endometriosis	INFBASE17483545
Parkinson's disease	PMID: 12203044
Peritoneal endometriosis	PMID: 17483545
Peritoneal endometriosis	PMID: 17483545
Polycystic ovary syndrome (PCOS)	PMID: 17205306
Psoriasis	PMID: 16142871
Rheumatoid arthritis	PMID: 16476711
Sarcoidosis	PMID: 12944982
Schizophrenia	PMID: 22479419
Silicosis	PMID: 18666137
Ulcerative colitis	PMID: 14613970

PubMed references

PMID	Condition	Mutation	Population details	Infertility_type	Associated_genes	Abstract
24901401	Endometrio sis		39 cases of the ectopic endome trial tissues w ithin the fallo pian tubes		Cox-2 NF-KB VEGF	Show abstract
22196717	Endometrio sis		48 (24 healthy women, 24 endom etriosis patien ts)		NF-KB1 NF-KB-p65	Show abstract
18710704	Endometrio sis		9 women with en dometriotic les ions		NF-kappaB	Show abstract
15958314	Endometrio sis		159 (35 specime ns of normal en dometrium, 48 e utopic endometr ium of endometr iosis, 76 ectop ic endometrium)		NF-kappaB VEGF	Show abstract
17483545	Endometrio sis (Perit oneal)		36 biopsies of peritoneal endo metriotic lesio ns		NF-kappaB	Show abstract
20218898	Endometrio sis	NFKB1(-94 insertion/deletion ATTG polymorphism)	571 (206 women with endometrio sis, 365 ethnic ity-matched hea lthy control wo men)		NFKB1	Show abstract
22902396	Endometrio sis	rs28362491 (-94 insertion/deletion ATTG polymorphism)	438 (172 infert ile women with endometriosis, 77 women with i diopathic infer tility and 189 controls)	Female infertility		Show abstract