The Human Reference Genome

  Source:		NFKB1

    		nuclear factor kappa B subunit 1

			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
			protein complex (NFKB1, NFKB2, RELA, RELB, REL).
			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.

			Expression of nuclear factor kappa B subunit
			1 has been detected in white blood cells,
			bone marrow, lung, lymph node, prostate
			and 29 other tissues.

			Related Genes
			5-azacytidine induced 2 (AZI2)
			A-kinase interacting protein 1 (AKIP1)
			A20-binding inhibitor of NF-kappaB activation 2 pseudogene (LOC100132831)
			B cell CLL/lymphoma 10 (BCL10)
			CD27 molecule (CD27)
			CFTR promoter region (LOC111674463)
			COMM domain containing 6 (COMMD6)
			COMM domain containing 8 (COMMD8)
			DDRGK domain containing 1 (DDRGK1)
			Fas cell surface death receptor (FAS)
			HEAT repeat containing 3 (HEATR3)
			LDOC1, regulator of NFKB signaling (LDOC1)
			LRR binding FLII interacting protein 2 (LRRFIP2)
			LTR-CSF1R promoter (LOC111188153)
			MALT1 paracaspase (MALT1)
			NF-kappaB interacting lncRNA (NKILA)
			NFKB activating protein (NKAP)
			NFKB activating protein like (NKAPL)
			NFKB activating protein pseudogene 1 (NKAPP1)
			NFKB inhibitor alpha (NFKBIA)
			NFKB inhibitor beta (NFKBIB)
			NFKB inhibitor delta (NFKBID)
			NFKB inhibitor epsilon (NFKBIE)
			NFKB inhibitor interacting Ras like 1 (NKIRAS1)
			NFKB inhibitor interacting Ras like 2 (NKIRAS2)
			NFKB inhibitor like 1 (NFKBIL1)
			NFKB inhibitor zeta (NFKBIZ)
			NFKB repressing factor (NKRF)
			NLR family CARD domain containing 5 (NLRC5)
			NLR family pyrin domain containing 2 (NLRP2)
			NLR family pyrin domain containing 3 (NLRP3)
			NLR family pyrin domain containing 4 (NLRP4)
			NLR family pyrin domain containing 6 (NLRP6)
			NOS1 1f and 1g alternate promoter region 111258525 (LOC111258525)
			NOS2 5' regulatory region (LOC111365141)
			NmrA like redox sensor 1 (NMRAL1)
			OTU deubiquitinase 7A (OTUD7A)
			PTGS2 antisense NFKB1 complex-mediated expression regulator RNA (PACERR)
			RELT, TNF receptor (RELT)
			SPP1 5' regulatory region (LOC110283621)
			Smad nuclear interacting protein 1 (SNIP1)
			TANK binding kinase 1 (TBK1)
			TAp63 promoter of tumor protein p63 (LOC111162620)
			TBK1 binding protein 1 (TBK1 binding protein 1)
			TERT 5' regulatory region (LOC110806263)
			TGF-beta activated kinase 1 (MAP3K7) binding protein 2 (TAB2)
			TGF-beta activated kinase 1 (MAP3K7) binding protein 3 (TAB3)
			TIFA inhibitor (TIFAB)
			TIR domain containing adaptor protein (TIRAP)
			TNF receptor associated factor 1 (TRAF1)
			TNF receptor associated factor 2 (TRAF2)
			TNF receptor associated factor 3 (TRAF3)
			TNF receptor associated factor 6 (TRAF6)
			TNF receptor superfamily member 13B (TNFRSF13B)
			TNF receptor superfamily member 17 (TNFRSF17)
			TNF receptor superfamily member 21 (TNFRSF21)
			TNF receptor superfamily member 4 (TNFRSF4)
			TNF receptor superfamily member 8 (TNFRSF8)
			TNF receptor superfamily member 9 (TNFRSF9)
			TNF superfamily member 15 (TNFSF15)
			TNFAIP3 interacting protein 1 (TNIP)
			TNFAIP3 interacting protein 2 (TNIP2)
			TNFRSF10A 5' regulatory region (LOC111255645)
			TNFRSF10B 5' regulatory region (LOC111255642)
			TNFRSF1A associated via death domain (TRADD)
			TRAF family member associated NFKB activator (TANK)
			TRAF3 interacting protein 2 (TRAF3IP2)
			TRK-fused gene (TFG)
			TSR2, ribosome maturation factor (TSR2)
			ZFP91 zinc finger protein (ZFP91)
			activating signal cointegrator 1 complex subunit 1 (ASCC1)
			beta-transducin repeat containing E3 ubiquitin protein ligase (BTRC)
			caspase recruitment domain family member 10 (CARD10)
			caspase recruitment domain family member 11 (CARD11)
			caspase recruitment domain family member 14 (CARD14)
			caspase recruitment domain family member 6 (CARD6)
			caspase recruitment domain family member 8 (CARD8)
			caspase recruitment domain family member 9 (CARD9)
			centromere protein J (CENPJ)
			coiled-coil domain containing 22 (CCDC22)
			coiled-coil domain containing 50 (CCDC50)
			conserved helix-loop-helix ubiquitous kinase (CHUK)
			copper metabolism domain containing 1 (COMMD1)
			ectodysplasin A receptor (EDAR)
			epithelial stromal interaction 1 (EPSTI1)
			human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3)
			inhibitor of Bruton tyrosine kinase (IBTK)
			inhibitor of nuclear factor kappa B kinase subunit beta (IKBKB)
			inhibitor of nuclear factor kappa B kinase subunit gamma (IKBKG)
			integrin subunit beta 3 binding protein (ITGB3BP)
			interleukin 1 receptor associated kinase 2 (IRAK2)
			interleukin 1 receptor associated kinase 4 (IRAK4)
			interleukin 17 receptor B (IL17RB)
			interleukin 17A (IL17A)
			interleukin 25 (IL25)
			interleukin 36 alpha (IL36A)
			interleukin 36 receptor antagonist (IL36RN)
			lysine acetyltransferase 2A (KAT2A)
			mitogen-activated protein kinase kinase kinase 1 (MAP3K1)
			mitogen-activated protein kinase kinase kinase 11 (MAP3K11)
			mitogen-activated protein kinase kinase kinase 14 (MAP3K14)
			mitogen-activated protein kinase kinase kinase 2 (MAP3K2)
			mitogen-activated protein kinase kinase kinase 3 (MAP3K3)
			mitogen-activated protein kinase kinase kinase 7 (MAP3K7)
			mitogen-activated protein kinase kinase kinase 8 (MAP3K8)
			nuclear factor kappa B subunit 2 pseudogene (LOC100533852)
			nucleotide binding oligomerization domain containing 2 (NOD2)
			peroxiredoxin 4 (PRDX4)
			phospholipase C beta 2 (PLCB2)
			pleckstrin homology and RhoGEF domain containing G5 (PLEKHG5)
			programmed cell death 11 (PDCD11)
			protein inhibitor of activated STAT 1 (PIAS1)
			protein kinase C theta (PRKCQ)
			receptor interacting serine/threonine kinase 2 (RIPK2)
			receptor interacting serine/threonine kinase 3 (RIPK3)
			receptor interacting serine/threonine kinase 4 (RIPK4)
			ring finger protein 25 (RNF25)
			sequestosome 1 (SQSTM1)
			small ubiquitin-like modifier 4 (SUMO4)
			sphingosine kinase 1 (SPHK1)
			toll like receptor 3 (TLR3)
			toll like receptor 5 (TLR5)
			toll like receptor adaptor molecule 1 (TICAM1)
			tonsoku like, DNA repair protein (TONSL)
			trafficking protein particle complex 9 (TRAPPC9)
			transcriptional and immune response regulator (TCIM)
			tribbles pseudokinase 3 (TRIB3)
			tyrosyl-DNA phosphodiesterase 2 (TDP2)
			ubiquitin conjugating enzyme E2 L3 (UBE2L3)
			zinc finger protein 382 (ZNF382)

			Chromosome 4

			MedGen Concepts
			Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
			Common variable immunodeficiency 1
			Defective production of NFKB1-dependent cytokines
			Immunodeficiency, common variable, 12

			32226296 Inflammation-dependent
			downregulation of miR-532-3p mediates
			apoptotic signaling in human sarcopenia
			through targeting BAK1.

			32190622 Repair mechanism of astrocytes and
			non-astrocytes in spinal cord injury.

			32190105 Translating traditional herbal
			formulas into modern drugs: a network-based
			analysis of Xiaoyao decoction.

			32184784 Heterogeneity of Liver Disease in
			Common Variable Immunodeficiency Disorders.

			32002656 NFKB1 gene single-nucleotide
			polymorphisms: implications for
			graft-versus-host disease in allogeneic
			hematopoietic stem cell transplantation.

			31992083 IL1β, IL18, NFKB1 and IFNG gene
			interactions are associated with severity of
			rheumatoid arthritis: A pilot study.

			31977526 Autoimmunity and

			31954524 Sex-Specific Human Cardiomyocyte
			Gene Regulation in Left Ventricular Pressure

			30172410 Methionine and choline supply during
			the peripartal period alter polymorphonuclear
			leukocyte immune response and
			immunometabolic gene expression in Holstein

			30171605 Genetic variation analysis in a
			follow-up study of gastric cancer precursor
			lesions confirms the association of MUC2
			variants with the evolution of the lesions and
			identifies a significant association with NFKB1
			and CD14.

			30146294 Dietary energy level affects adipose
			depot mass but does not impair in vitro
			subcutaneous adipose tissue response to
			short-term insulin and tumor necrosis factor-α
			challenge in nonlactating, nonpregnant Holstein

			30057095 Decreased blood pressure is related
			to changes in NF-kB promoter methylation
			levels after bariatric surgery.

			30021913 Blastocyst-induced changes in the
			bovine endometrial transcriptome.

			30016332 Bank1 and NF-kappaB as key
			regulators in anti-nucleolar antibody

			Clinical Trials
			3250637 Diet, Genes and Colorectal Cancer -
			With Focus on Toll-like Receptor

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