NFKBIB(核因子κB抑制因子β)属于IκB家族,是NF-κB信号通路的关键调控因子。该基因编码的IκBβ蛋白通过与NF-κB二聚体(如p50/p65)结合,将其锚定在细胞质中,阻止其进入细胞核激活靶基因。与IκBα不同,IκBβ的降解较慢,可提供更持久的NF-κB抑制。该基因在炎症、免疫应答和细胞存活中起核心作用,其表达水平直接影响TNF-α、IL-6等促炎因子的产生。NFKBIB突变可能导致调控异常,如功能丧失性突变会引发NF-κB持续活化,与类风湿性关节炎、炎症性肠病等慢性炎症疾病相关;而某些突变可能增强其抑制能力,导致免疫缺陷。过表达NFKBIB会过度抑制NF-κB通路,削弱机体对抗感染和应激的能力,并可能影响细胞凋亡;表达降低则会导致NF-κB异常激活,促进炎症和肿瘤发生(如淋巴瘤、乳腺癌)。IκB家族(包括IκBα、IκBβ、IκBε等)的共同特点是含有多个锚蛋白重复序列,能特异性结合NF-κB并掩盖其核定位信号。该家族成员通过可逆性抑制NF-κB,形成动态调控网络,其中NFKBIB的特点在于其N端具有独特的调控区域,且对特定刺激(如LPS)的反应性不同于其他成员。此外,NFKBIB还能与p50同源二聚体形成长期稳定的复合物,这种特性被某些病毒(如EB病毒)利用来逃避免疫监视。
The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011]
由该基因编码的蛋白质属于NF-卡帕-B抑制剂家族,其通过与络合,并在细胞质中捕获它抑制NF-κ-B点。通过激酶对这些蛋白的丝氨酸残基的磷酸化经由泛素化途径它们标记为破坏,从而使NF-κ-B,其易位至核以充当转录因子的激活。另外剪接转录变体也发现了这种基因。[由RefSeq的,2011年7月提供]
NFKBIB基因(以及对应的蛋白质)的细胞分布位置:
NFKBIB基因的本体(GO)信息:
| 名称 |
|---|
| 4621 NOD-like receptor signaling pathway [PATH:hsa04621] |
| 4622 RIG-I-like receptor signaling pathway [PATH:hsa04622] |
| 4623 Cytosolic DNA-sensing pathway [PATH:hsa04623] |
| 4660 T cell receptor signaling pathway [PATH:hsa04660] |
| 4662 B cell receptor signaling pathway [PATH:hsa04662] |
| 4062 Chemokine signaling pathway [PATH:hsa04062] |
| 4920 Adipocytokine signaling pathway [PATH:hsa04920] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 5131 Shigellosis [PATH:hsa05131] |
| 5162 Measles [PATH:hsa05162] |
| 5164 Influenza A [PATH:hsa05164] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 5140 Leishmaniasis [PATH:hsa05140] |
| 名称 |
|---|
| Activated TLR4 signalling |
| Activation of NF-kappaB in B cells |
| Adaptive Immune System |
| Cytosolic sensors of pathogen-associated DNA |
| Disease |
| Diseases associated with the TLR signaling cascade |
| Diseases of Immune System |
| Downstream signaling events of B Cell Receptor (BCR) |
| IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) |
| Immune System |
| Innate Immune System |
| MyD88 cascade initiated on plasma membrane |
| MyD88 dependent cascade initiated on endosome |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways |
| RIP-mediated NFkB activation via ZBP1 |
| Signaling by the B Cell Receptor (BCR) |
| TAK1 activates NFkB by phosphorylation and activation of IKKs complex |
| Toll Like Receptor 10 (TLR10) Cascade |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor 5 (TLR5) Cascade |
| Toll Like Receptor 7/8 (TLR7/8) Cascade |
| Toll Like Receptor 9 (TLR9) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| TRAF6 Mediated Induction of proinflammatory cytokines |
| TRAF6 mediated NF-kB activation |
| TRIF-mediated TLR3/TLR4 signaling |
| ZBP1(DAI) mediated induction of type I IFNs |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Rheumatoid Arthritis | 0.004734064 | 2 | 1 | GAD |
| Premature Birth | 0.004734064 | 2 | 0 | GAD |
| Hepatitis C | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of ovary | 0.002638474 | 1 | 0 | BeFree_GAD |
| Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
| Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.002367032 | 1 | 0 | GAD |
| Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
| Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
| Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
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