更多...
收起
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]
[中文简述(自动翻译):]  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]
FURIN基因(以及对应的蛋白质)的细胞分布位置:
FURIN基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Animal Mammary Neoplasms | 0.12 | 2 | 0 | CTD_human |
Mammary Neoplasms, Experimental | 0.12 | 2 | 0 | CTD_human |
Schizophrenia | 0.12 | 1 | 1 | GWASCAT |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Colorectal Cancer | 0.002909916 | 2 | 1 | BeFree_GAD |
Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Cystic Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Cessation of life | 0.00272435 | 1 | 0 | LHGDN |
Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Glioma | 0.00272435 | 1 | 0 | LHGDN |
Head and Neck Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Vascular Diseases | 0.00272435 | 1 | 0 | LHGDN |
Amyloidosis, Familial | 0.00272435 | 1 | 0 | LHGDN |
Hypertensive disease | 0.002638474 | 1 | 0 | BeFree_GAD |
Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
Hepatitis B, Chronic | 0.002367032 | 1 | 0 | GAD |
Blood pressure finding | 0.002367032 | 1 | 0 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
Chlamydia Infections | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 1 | BeFree |
Chlamydia trachomatis infection | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Streptococcal Infections | 0.000271442 | 1 | 0 | BeFree |
T-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Deep Vein Thrombosis | 0.000271442 | 1 | 0 | BeFree |
Philadelphia chromosome-positive acute lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。