FURIN (furin, paired basic amino acid cleaving enzyme)
- symbol:
- FURIN
- locus group:
- protein-coding gene
- location:
- 15q26.1
- gene_family:
- alias symbol:
- SPC1
- alias name:
- proprotein convertase subtilisin/k…
- entrez id:
- 5045
- ensembl gene id:
- ENSG00000140564
- ucsc gene id:
- uc002bpu.2
- refseq accession:
- NM_002569
- hgnc_id:
- HGNC:8568
- approved reserved:
- 1991-08-08
FURIN是一种编码前蛋白转化酶的基因，属于前蛋白转化酶家族（Proprotein Convertase Family，PC家族），该家族共有9个成员（如PCSK1、PCSK2等），主要负责切割和激活多种无活性的前体蛋白。FURIN基因位于人类15号染色体上，其表达的FURIN蛋白是一种重要的内切蛋白酶，在多种生理过程中发挥关键作用。FURIN的主要作用位点是高尔基体和细胞膜，它通过识别并切割含有特定碱性氨基酸序列（如RXKR或RXXR）的前体蛋白，激活包括生长因子、激素、病毒蛋白（如SARS-CoV-2的刺突蛋白）和细胞表面受体在内的多种底物。FURIN的功能异常或突变可能导致多种疾病。例如，FURIN功能缺失突变可能与某些代谢紊乱、免疫缺陷或发育异常相关，而过度激活则可能促进肿瘤进展或病毒感染。FURIN在癌症中常过表达，促进肿瘤侵袭和转移，因为它能激活基质金属蛋白酶（MMPs）和生长因子（如TGF-β）。此外，FURIN还参与心血管疾病和神经退行性疾病（如阿尔茨海默病）的病理过程。FURIN表达水平的变化对其他基因和功能有广泛影响。过表达可能增强病毒易感性（如流感或HIV）或加剧炎症反应，而表达降低可能损害免疫应答或组织修复。PC家族的共性包括依赖钙离子的蛋白酶活性、在高尔基体和分泌途径中的作用，以及通过切割前体蛋白调控生物活性分子的成熟。FURIN因其广泛的底物和病理关联，成为药物开发的潜在靶点，尤其在抗病毒和抗癌领域。
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. The product of this gene is one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140 and may play a role in tumor progression. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
该基因编码的枯草杆菌蛋白酶类前蛋白转化家族，其包括投放通过分泌途径的调控型或组成分支过程的蛋白质和肽的前体蛋白酶的成员。它编码是在许多组织，包括神经内分泌，肝脏，肠和大脑中表达的1型膜结合蛋白酶。所编码的蛋白质发生在ER的初始催化处理事件，然后进行排序，以通过核内体的反式高尔基网络，其中第二催化事件发生和催化活性被获取。这个基因的产物是在单个或成对碱性残基裂解其底物的七个碱性氨基酸具体酸的成员之一。它的一些底物包括proparathyroid激素，转化生长因子β1前体，前白蛋白，亲β-分泌，膜型基质金属蛋白酶-1，促神经生长因子和血管假性血友病因子β亚基。它也被认为是负责HIV包膜糖蛋白gp160的和gp140的活化的蛋白酶的一个，并且可以在肿瘤进展中的作用。该基因位于靠近家庭成员前蛋白转化酶枯草杆菌蛋白酶/可心6型和FES癌基因的??上游。选择性剪接结果在多个抄本变形。 [由RefSeq的，2014年1月提供]
基因本体信息
FURIN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
FURIN基因的本体（GO）信息：
| 名称 |
|---|
| 5164 Influenza A [PATH:hsa05164] |
| 名称 |
|---|
| Activation of Matrix Metalloproteinases |
| Assembly Of The HIV Virion |
| Collagen degradation |
| Degradation of the extracellular matrix |
| Developmental Biology |
| Disease |
| Elastic fibre formation |
| Extracellular matrix organization |
| Gamma carboxylation, hypusine formation and arylsulfatase activation |
| Gamma-carboxylation, transport, and amino-terminal cleavage of proteins |
| HIV Infection |
| HIV Life Cycle |
| Infectious disease |
| Late Phase of HIV Life Cycle |
| Metabolism of proteins |
| NGF processing |
| Post-translational protein modification |
| Pre-NOTCH Expression and Processing |
| Pre-NOTCH Processing in Golgi |
| Removal of aminoterminal propeptides from gamma-carboxylated proteins |
| Signal Transduction |
| Signaling by NODAL |
| Signaling by NOTCH |
| Signaling by PDGF |
| Signaling by TGF-beta Receptor Complex |
| Signalling by NGF |
| Synthesis and processing of ENV and VPU |
| TGF-beta receptor signaling activates SMADs |
| Uptake and actions of bacterial toxins |
| Uptake and function of anthrax toxins |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Animal Mammary Neoplasms | 0.12 | 2 | 0 | CTD_human |
| Schizophrenia | 0.12 | 1 | 1 | GWASCAT |
| Mammary Neoplasms, Experimental | 0.12 | 2 | 0 | CTD_human |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Colorectal Cancer | 0.002909916 | 2 | 1 | BeFree_GAD |
| Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Cystic Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
| Vascular Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Glioma | 0.00272435 | 1 | 0 | LHGDN |
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