If you use fanyi in published research, please cite:
Guangchuang Yu. Using fanyi to assist research communities in retrieving and interpreting information. bioRxiv 2023, doi: 10.1101/2023.12.21.572729
uid name
SPARCL1 8404 SPARCL1
CACNB2 783 CACNB2
DUSP1 1843 DUSP1
SAMHD1 25939 SAMHD1
MAOA 4128 MAOA
GPX3 2878 GPX3
description
SPARCL1 SPARC like 1
CACNB2 calcium voltage-gated channel auxiliary subunit beta 2
DUSP1 dual specificity phosphatase 1
SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
MAOA monoamine oxidase A
GPX3 glutathione peroxidase 3
summary
SPARCL1 Predicted to enable calcium ion binding activity; collagen binding activity; and extracellular matrix binding activity. Predicted to be involved in regulation of synapse organization. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]
CACNB2 This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
DUSP1 The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]
SAMHD1 This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
MAOA This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
GPX3 The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
summary_cn
SPARCL1 预测具有钙离子结合活性;胶原蛋白结合活性;和细胞外矩阵结合活性。预计参与突触组织的调节。位于细胞外间隙。[由基因组资源联盟提供，2025年7月]
CACNB2 该基因编码电压依赖性钙通道蛋白的一个亚基，该蛋白是电压门控钙通道超家族的成员。该基因产物最初被确定为Lambert-Eaton肌无力综合征（一种自身免疫性疾病）的抗原目标。该基因的突变与Brugada综合症有关。已经描述了编码不同同工型的替代性拼接变体。[由RefSeq提供，2013年2月]
DUSP1 该基因编码的蛋白质是一种对酪氨和钍具有双重特异性的磷酸酶。所编码的蛋白质可以使MAP同工酶MAP 1/ERG 2去磷酸化，从而导致其参与多种细胞过程。该蛋白质似乎在人类细胞对环境应激的反应以及细胞增生的负调节中发挥着重要作用。最后，编码的蛋白质可以使一些实体肿瘤对化疗和放疗都有耐药性，使其成为癌症治疗的靶点。[由RefSeq提供，2017年8月]
SAMHD1 该基因可能在调节先天免疫反应中发挥作用。编码的蛋白质因病毒感染而上调，并可能参与介导肿瘤坏死因子-阿尔法促炎症反应。该基因的突变与艾卡迪-古铁雷斯综合征有关。[由RefSeq提供，2010年3月]
MAOA 该基因是编码线粒体酶的两个邻近基因家族成员之一，线粒体酶催化多巴胺、去甲肾上腺素和血清素等胺的氧化脱氨作用。该基因的突变会导致布伦纳综合征。该基因还与多种其他精神疾病有关，包括反社会行为。已经观察到编码多种同工型的替代性拼接转录变体。[RefSeq提供，2012年7月]
GPX3 该基因编码的蛋白质属于谷氨肽过氧化物家族，其成员催化谷氨肽对有机氢过氧化氢和过氧化氢（H2 O2）的还原，从而保护细胞免受氧化损伤。该基因家族的几种同工酶存在于脊椎动物中，它们的细胞位置和代谢物特异性各不相同。这种同工酶是分泌的，并且在血浆中大量发现。在多种人类恶性肿瘤中，包括甲状腺癌、肝细胞癌和慢性骨髓性白血病，已观察到启动子超甲基化导致该基因的表达下调。这种同工酶也是一种硒蛋白，在其活性位点含有稀有氨基酸硒代半胱氨酸（Sec）。Sec由UGA密码子编码，其通常发出翻译终止的信号。硒蛋白mRNA的3'UTR含有保守的茎环结构，称为Sec插入序列（SECIS）元件，其是将UGA识别为Sec密码子而不是终止信号所必需的。已经发现了该基因的替代性拼接转录变体。[由RefSeq提供，2016年7月]