TNFRSF1A (TNF receptor superfamily member 1A)
- symbol:
- TNFRSF1A
- locus group:
- protein-coding gene
- location:
- 12p13.31
- gene_family:
- CD molecules|Tumor necrosis factor receptor superfamily
- alias symbol:
- TNF-R|TNFAR|TNFR60|TNF-R-I|CD120a|TNF-R55
- alias name:
- None
- entrez id:
- 7132
- ensembl gene id:
- ENSG00000067182
- ucsc gene id:
- uc001qnu.4
- refseq accession:
- NM_001065
- hgnc_id:
- HGNC:11916
- approved reserved:
- 1991-01-15
TNFRSF1A（肿瘤坏死因子受体超家族成员1A，Tumor Necrosis Factor Receptor Superfamily Member 1A）是肿瘤坏死因子受体超家族（TNFRSF）的重要成员，编码TNF受体1（TNFR1）。该基因位于12号染色体上，其表达产物TNFR1是一种跨膜蛋白，主要通过与肿瘤坏死因子（TNF-α）结合来激活下游信号通路，参与炎症反应、细胞凋亡和免疫调节等关键生物学过程。TNFR1的胞内区含有死亡结构域（Death Domain, DD），能够募集TRADD、FADD等适配蛋白，进而激活NF-κB通路（促生存）或 caspase级联反应（促凋亡），具体取决于细胞微环境。该基因的突变可能导致功能异常，例如常染色体显性遗传病TNF受体相关周期性综合征（TRAPS），表现为反复发热、腹痛和炎症。突变可能影响受体折叠或信号传导，导致NF-κB过度激活或异常凋亡。TNFRSF1A过表达可能加剧炎症性疾病（如类风湿关节炎）或肿瘤发生，而低表达可能削弱免疫防御或促进感染易感性。TNF受体超家族（TNFRSF）的共性包括：均含有富含半胱氨酸的胞外区以结合配体（如TNF家族细胞因子），并通过激活下游信号（如NF-κB、MAPK、凋亡通路）调控免疫和细胞命运。该家族成员在自身免疫病、癌症和感染中具有广泛作用。
The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [provided by RefSeq, Jul 2008]
由该基因编码的蛋白质是TNF受体超家族的成员。这种蛋白质是主要受体的肿瘤坏死因子-α之一。该受体可以激活NF-κB的，介导细胞凋亡，并作为炎症的调节器。抗凋亡蛋白BCL2相关athanogene 4（BAG4 / SODD）和衔接蛋白TRADD和TRAF2已显示出与该受体相互作用，并因此在通过受体介导的信号转导发挥调节作用。发现该受体的胞外结构域的种系突变与常染色体显性周期性发热综合征。受损受体间隙被认为是疾病的机制。 [由RefSeq的，2008年7月提供]
基因本体信息
TNFRSF1A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
TNFRSF1A基因的本体（GO）信息：
| 名称 |
|---|
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4064 NF-kappa B signaling pathway [PATH:hsa04064] |
| 4668 TNF signaling pathway [PATH:hsa04668] |
| 4071 Sphingolipid signaling pathway [PATH:hsa04071] |
| 4060 Cytokine-cytokine receptor interaction [PATH:hsa04060] |
| 4210 Apoptosis [PATH:hsa04210] |
| 4920 Adipocytokine signaling pathway [PATH:hsa04920] |
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
| 4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5164 Influenza A [PATH:hsa05164] |
| 5160 Hepatitis C [PATH:hsa05160] |
| 5168 Herpes simplex infection [PATH:hsa05168] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Death Receptor Signalling |
| TNF signaling |
| TNFR1-mediated proapoptotic signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 0.58156346 | 65 | 12 | BeFree_CLINVAR_CTD_human_GAD_MGD_ORPHANET_UNIPROT |
| Multiple Sclerosis | 0.258816704 | 23 | 3 | BeFree_CTD_human_GAD_GWASCAT |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.208544182 | 8 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Cachexia | 0.200271442 | 3 | 0 | BeFree_CTD_human_RGD |
| Diabetes Mellitus, Experimental | 0.2 | 2 | 0 | CTD_human_RGD |
| Brain Ischemia | 0.2 | 2 | 0 | CTD_human_RGD |
| Cystic Fibrosis | 0.125362824 | 1 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Fever | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Biliary cirrhosis | 0.122367032 | 1 | 1 | CTD_human_GAD |
| Autoimmune Diseases | 0.121357209 | 6 | 0 | BeFree_CTD_human |
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