FADD (Fas associated via death domain)
- symbol:
- FADD
- locus group:
- protein-coding gene
- location:
- 11q13.3
- gene_family:
- alias symbol:
- MORT1|GIG3
- alias name:
- Fas-associating protein with death…
- entrez id:
- 8772
- ensembl gene id:
- ENSG00000168040
- ucsc gene id:
- uc001opm.3
- refseq accession:
- NM_003824
- hgnc_id:
- HGNC:3573
- approved reserved:
- 1999-05-07
FADD（Fas-associated protein with death domain）是一种重要的衔接蛋白，属于死亡结构域蛋白家族（Death Domain family）。它的主要功能是参与细胞凋亡（程序性细胞死亡）和炎症反应的信号传导。FADD通过其死亡结构域（DD）与Fas受体（CD95）或TNF受体家族的死亡受体结合，并通过死亡效应结构域（DED）与procaspase-8或procaspase-10相互作用，形成死亡诱导信号复合物（DISC），从而激活caspase级联反应，最终导致细胞凋亡。FADD还在炎症反应中发挥作用，通过参与TLR3和TLR4信号通路激活NF-κB和干扰素调节因子（IRF）等转录因子。FADD的突变或表达异常可能导致严重的生理后果。例如，FADD功能缺失突变会抑制细胞凋亡，可能导致癌症或自身免疫性疾病；而FADD过表达可能引起过度细胞凋亡，与神经退行性疾病或组织损伤相关。FADD基因敲除小鼠在胚胎期因心脏发育异常而死亡，表明其在发育中具有关键作用。FADD还与多种疾病相关，包括癌症、病毒感染和炎症性疾病。在癌症中，FADD表达水平的变化可能影响肿瘤细胞的存活和扩散。FADD属于死亡结构域蛋白家族，该家族的成员通常含有死亡结构域，参与细胞凋亡、炎症和免疫反应的信号转导。家族成员包括TRADD、RIPK1和CRADD等，它们通过相似的机制调节细胞命运和免疫应答。FADD的表达水平变化会影响其他基因和细胞功能，例如过表达可能增强凋亡信号，而低表达可能抑制凋亡并促进细胞存活，进而影响机体的稳态和疾病进程。
The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是一个接头分子与各种细胞表面受体相互作用并介导细胞凋亡信号。通过其C末端的死亡结构域，该蛋白质可以通过TNFRSF6 /的Fas受体，肿瘤坏死因子受体，TNFRSF25，和TNFSF10 / TRAIL受体被招募，并且因此它在死亡参与这些受体信令发起的。与受体的这种蛋白质相互作用取消屏蔽该蛋白质，这使得它能够招募的caspase-8的N末端效应物结构域，并由此激活半胱氨酸蛋白酶级联反应。在小鼠中敲除研究还表明这种蛋白在早期T细胞发育的重要性。 [由RefSeq的，2008年7月提供]
基因本体信息
FADD基因（以及对应的蛋白质）的细胞分布位置：
- 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
FADD基因的本体（GO）信息：
| 名称 |
|---|
| 4668 TNF signaling pathway [PATH:hsa04668] |
| 4210 Apoptosis [PATH:hsa04210] |
| 4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
| 4622 RIG-I-like receptor signaling pathway [PATH:hsa04622] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Activated TLR4 signalling |
| Apoptosis |
| CASP8 activity is inhibited |
| Caspase activation via extrinsic apoptotic signalig pathway |
| Death Receptor Signalling |
| Dimerization of procaspase-8 |
| FasL/ CD95L signaling |
| Immune System |
| Innate Immune System |
| Ligand-dependent caspase activation |
| MyD88-independent TLR3/TLR4 cascade |
| NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 |
| Programmed Cell Death |
| Regulated Necrosis |
| Regulation by c-FLIP |
| Regulation of necroptotic cell death |
| RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways |
| RIPK1-mediated regulated necrosis |
| Signal Transduction |
| TNF signaling |
| TNFR1-mediated proapoptotic signaling |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll-Like Receptors Cascades |
| TRAIL signaling |
| TRIF-mediated programmed cell death |
| TRIF-mediated TLR3/TLR4 signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
| Neoplasm Metastasis | 0.122995792 | 3 | 0 | BeFree_CTD_human_LHGDN |
| Stomatognathic Diseases | 0.12 | 1 | 0 | CTD_human |
| Sensorineural Hearing Loss (disorder) | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Otodental Dysplasia | 0.12 | 0 | 0 | ORPHANET |
| Lung Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
| Chronic Lymphocytic Leukemia | 0.002909916 | 3 | 0 | BeFree_GAD |
| Histiocytosis, Langerhans-Cell | 0.00272435 | 1 | 0 | LHGDN |
| Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
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