NFKB1 (nuclear factor kappa B subunit 1)

symbol:
NFKB1
locus group:
protein-coding gene
location:
4q24
gene_family:
Ankyrin repeat domain containing
alias symbol:
KBF1|p105|NFKB-p50|p50|NF-kappaB|NFkappaB|NF-kB1
alias name:
Nuclear factor NF-kappa-B p105 sub…
entrez id:
4790
ensembl gene id:
ENSG00000109320
ucsc gene id:
uc011cep.2
refseq accession:
NM_003998
hgnc_id:
HGNC:7794
approved reserved:
1991-11-14
4q24
基因染色体位置图

NFKB1是核因子κB(NF-κB)家族的重要成员,编码p105蛋白,经加工后形成具有活性的p50亚基。NF-κB家族是一类广泛参与免疫、炎症、细胞增殖和凋亡调控的转录因子,其共性在于通过形成同源或异源二聚体结合DNA,调控下游靶基因表达。NFKB1主要通过与Rel家族蛋白(如RelA/p65)形成p50-RelA异源二聚体发挥作用,这种复合物是经典的NF-κB激活形式。在静息状态下,NF-κB被IκB蛋白抑制而滞留于胞质;当受到TNF-α、IL-1等刺激时,IκB被降解,NF-κB入核激活靶基因,如促炎细胞因子(IL-6、TNF-α)和抗凋亡蛋白(Bcl-2)。NFKB1的突变可能导致免疫缺陷或异常炎症反应,如杂合突变与常见可变免疫缺陷病(CVID)相关,表现为抗体产生障碍和反复感染。其功能丧失还可能影响B细胞发育和淋巴器官形成。NFKB1过表达会持续激活促炎通路,与类风湿关节炎、炎症性肠病和多种癌症(如淋巴瘤、乳腺癌)的发生发展密切相关;而表达降低则可能导致免疫应答缺陷,增加感染风险。值得注意的是,p50同源二聚体缺乏转录激活域,反而可能抑制某些炎症基因的表达,形成负反馈调节。该基因还参与氧化应激反应、昼夜节律调控等过程,并与阿尔茨海默病中神经炎症的进展相关。药物开发中常以NF-κB通路为靶点,但需谨慎平衡其促炎和抗凋亡的双重作用。

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

该基因编码一个105 kD的蛋白质被26S蛋白酶体产生50 kD的蛋白质,可以经过共翻译加工。所述的105kD蛋白质是相对特异性蛋白转录抑制剂和50 kD的蛋白质是NF-κ-B(NFKB)蛋白质复合物的DNA结合亚基。的NFκB是受各种内和细胞外刺激如细胞因子,不含氧化剂,自由基,紫外线照射,以及细菌或病毒产品激活的转录调节子。激活的NFκB易位到细胞核并刺激参与多种生物功能的基因的表达。 NFKB的不适当的激活已经与一些炎症性疾病,而NFκB的持续抑制导致不适当的免疫细胞发育或延迟细胞生长有瓜葛。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2009年09月提供]

NFKB1基因的碱基序列:[NCBI]
Loading Gene Browser...
NFKB1基因的碱基突变:           仅显示部分snp
rs1801       rs230491       rs230492       rs230493       rs230494       rs230495       rs230496       rs230497       rs230498       rs230499       rs230500       rs230501       rs230502       rs230503       rs230504       rs230505       rs230538      

NFKB1基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AAATCTGCAACTATGTGGGA
57
AGATCCCATCCTCACAGTG
58
AAGAAGTCTTACCCTCAGGTC
59
GAACAATAACCTTTGCTGGTC
58
AAGAAGTCTTACCCTCAGGTC
59
GAACAATAACCTTTGCTGGTC
58
TCCATATTTGGGAAGGCCT
58
TGAAGGTATGGGCCATCTG
59
TAAAGAAGCTTCAGAATGGCAG
59
TGAAGGTATGGGCCATCTG
59
TGTAAGAATGGACAGGACAG
57
GAATCTGGATGTCATCTTTCTG
57
CCATCTATGACAGTAAAGCCC
58
AAATCCTTCCCAGACTCCA
57
TCCATATTTGGGAAGGCCT
58
TGAAGGTATGGGCCATCTG
59
AAAGAACCACCAGCTTCAG
58
CTGTGGTTGAAATACTTCTGGA
58
GACAACTATGAGGTCTCTGGG
60
TTCAATTGCTTCGGTGTAGC
59
转录因子
影响基因
影响类型
参考文献链接(PubMed)
APEX1
NFKB1
Activation
AR
NFKB1
Repression
BCL3
NFKB1
Repression
BCL3
NFKB1
Unknown
BCL6
NFKB1
Repression
BTF3
NFKB1
Repression
EGR1
NFKB1
Unknown
EP300
NFKB1
Unknown
ETV3
NFKB1
Repression
FHL2
NFKB1
Unknown

NFKB1基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

NFKB1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0003677
D6RC45 (UniProtKB)
IEA
GO:0003700
D6RC45 (UniProtKB)
IEA
GO:0005634
D6RC45 (UniProtKB)
IEA
GO:0005737
D6RC45 (UniProtKB)
IEA
GO:0006357
D6RC45 (UniProtKB)
IEA
GO:0003677
D6RDI9 (UniProtKB)
IEA
GO:0003700
D6RDI9 (UniProtKB)
IEA
GO:0005634
D6RDI9 (UniProtKB)
IEA
GO:0005737
D6RDI9 (UniProtKB)
IEA
GO:0006357
D6RDI9 (UniProtKB)
IEA
GO:0003677
D6RF93 (UniProtKB)
IEA
GO:0003700
D6RF93 (UniProtKB)
IEA
GO:0005634
D6RF93 (UniProtKB)
IEA
GO:0005737
D6RF93 (UniProtKB)
IEA
GO:0006357
D6RF93 (UniProtKB)
IEA
GO:0003677
D6RH30 (UniProtKB)
IEA
GO:0003700
D6RH30 (UniProtKB)
IEA
GO:0005634
D6RH30 (UniProtKB)
IEA
GO:0005737
D6RH30 (UniProtKB)
IEA
GO:0006357
D6RH30 (UniProtKB)
IEA
GO:0000122
P19838 (UniProtKB)
IC
GO:0000122
P19838 (UniProtKB)
IMP
GO:0000122
P19838 (UniProtKB)
IGI
GO:0000975
P19838 (UniProtKB)
IDA
GO:0000976
P19838 (UniProtKB)
IDA
GO:0000977
P19838 (UniProtKB)
IDA
GO:0000980
P19838 (UniProtKB)
IDA
GO:0001205
P19838 (UniProtKB)
IDA
GO:0001227
P19838 (UniProtKB)
IDA
GO:0002223
P19838 (UniProtKB)
TAS
GO:0003682
P19838 (UniProtKB)
IBA
GO:0003700
P19838 (UniProtKB)
IDA
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005515
P19838 (UniProtKB)
IPI
GO:0005634
P19838 (UniProtKB)
IDA
GO:0005634
P19838 (UniProtKB)
IDA
GO:0005654
P19838 (UniProtKB)
IDA
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005654
P19838 (UniProtKB)
TAS
GO:0005737
P19838 (UniProtKB)
IDA
GO:0005737
P19838 (UniProtKB)
IDA
GO:0005739
P19838 (UniProtKB)
IDA
GO:0005829
P19838 (UniProtKB)
IBA
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0005829
P19838 (UniProtKB)
TAS
GO:0006366
P19838 (UniProtKB)
TAS
GO:0006915
P19838 (UniProtKB)
IEA
GO:0006954
P19838 (UniProtKB)
TAS
GO:0006979
P19838 (UniProtKB)
IEA
GO:0007249
P19838 (UniProtKB)
IBA
GO:0008134
P19838 (UniProtKB)
IDA
GO:0010744
P19838 (UniProtKB)
IC
GO:0010884
P19838 (UniProtKB)
IC
GO:0010956
P19838 (UniProtKB)
IDA
GO:0010957
P19838 (UniProtKB)
IC
GO:0031072
P19838 (UniProtKB)
IEA
GO:0031293
P19838 (UniProtKB)
TAS
GO:0032269
P19838 (UniProtKB)
IC
GO:0032375
P19838 (UniProtKB)
IC
GO:0032481
P19838 (UniProtKB)
TAS
GO:0033256
P19838 (UniProtKB)
TAS
GO:0035994
P19838 (UniProtKB)
IEA
GO:0038061
P19838 (UniProtKB)
IBA
GO:0038095
P19838 (UniProtKB)
TAS
GO:0042802
P19838 (UniProtKB)
IPI
GO:0042802
P19838 (UniProtKB)
IPI
GO:0042802
P19838 (UniProtKB)
IPI
GO:0042803
P19838 (UniProtKB)
IEA
GO:0042803
P19838 (UniProtKB)
IEA
GO:0042805
P19838 (UniProtKB)
IPI
GO:0043005
P19838 (UniProtKB)
IEA
GO:0043066
P19838 (UniProtKB)
TAS
GO:0043066
P19838 (UniProtKB)
TAS
GO:0044212
P19838 (UniProtKB)
IDA
GO:0045083
P19838 (UniProtKB)
IEA
GO:0045087
P19838 (UniProtKB)
IBA
GO:0045893
P19838 (UniProtKB)
IDA
GO:0045893
P19838 (UniProtKB)
IMP
GO:0045893
P19838 (UniProtKB)
NAS
GO:0045944
P19838 (UniProtKB)
IDA
GO:0045944
P19838 (UniProtKB)
IMP
GO:0046688
P19838 (UniProtKB)
IEA
GO:0046982
P19838 (UniProtKB)
IDA
GO:0046982
P19838 (UniProtKB)
IDA
GO:0050728
P19838 (UniProtKB)
IEA
GO:0050852
P19838 (UniProtKB)
TAS
GO:0051092
P19838 (UniProtKB)
TAS
GO:0051403
P19838 (UniProtKB)
TAS
GO:0071222
P19838 (UniProtKB)
IMP
GO:0071260
P19838 (UniProtKB)
IEP
GO:0071316
P19838 (UniProtKB)
IMP
GO:0071322
P19838 (UniProtKB)
IEA
GO:0071347
P19838 (UniProtKB)
IEP
GO:0071354
P19838 (UniProtKB)
IMP
GO:0071356
P19838 (UniProtKB)
IEA
GO:0071359
P19838 (UniProtKB)
IEA
GO:0071375
P19838 (UniProtKB)
IMP
GO:0090263
P19838 (UniProtKB)
IMP
GO:1900127
P19838 (UniProtKB)
IDA
GO:1904630
P19838 (UniProtKB)
IEA
GO:1904632
P19838 (UniProtKB)
IEA
GO:1990416
P19838 (UniProtKB)
IEA
GO:2000630
P19838 (UniProtKB)
IMP

可能调控 NFKB1基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Adenocarcinoma 0.138713133 8 0 CTD_human_GAD_LHGDN
Schizophrenia 0.134581916 46 1 BeFree_GAD_GWASCAT
Colonic Neoplasms 0.131354408 9 0 BeFree_CTD_human_GAD_LHGDN
Ulcerative Colitis 0.1312586 16 33 BeFree_GAD_GWASCAT_LHGDN
Diabetes Mellitus, Non-Insulin-Dependent 0.127448483 13 1 BeFree_CTD_human_GAD
Biliary cirrhosis 0.122367032 1 1 CTD_human_GAD
Common Variable Immunodeficiency 0.120814326 3 0 BeFree_ORPHANET
Kidney Failure, Chronic 0.120542884 3 0 BeFree_CTD_human
Liver diseases 0.120271442 2 0 BeFree_CTD_human
Brain Ischemia 0.120271442 2 0 BeFree_CTD_human

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