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This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因是在宿主细胞因子家族的成员,并具有五个KELCH重复,纤连蛋白样基序编码蛋白质,和六HCF重复,其中每个都包含一个高度特异性切割信号。此核共活化剂是蛋白水解切割在六个可能的网站之一,导致产生的N-末端链和相应的C-末端链。这种蛋白质的最后形式由非共价结合的N-和C-末端链。该蛋白质是参与疱疹病毒感染过程中的细胞周期和转录调控的控制。可变剪接变体,其编码不同蛋白同种型已被描述;然而,并非所有的变体已被充分表征。 [由RefSeq的,2008年7月提供]
HCFC1基因(以及对应的蛋白质)的细胞分布位置:
HCFC1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MENTAL RETARDATION, X-LINKED 3 | 0.36 | 1 | 5 | CLINVAR_ORPHANET_UNIPROT |
Liver neoplasms | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Herpes Simplex Infections | 0.002995792 | 2 | 0 | BeFree_LHGDN |
leukemia | 0.00272435 | 1 | 0 | LHGDN |
Meniere Disease | 0.002367032 | 1 | 0 | GAD |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Congenital malformation syndrome | 0.000542884 | 2 | 0 | BeFree |
Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Cognition Disorders | 0.000271442 | 1 | 0 | BeFree |
Dystonia | 0.000271442 | 1 | 0 | BeFree |
Keratoconus | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Vitamin B 12 Deficiency | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Craniofacial Abnormalities | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
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