2024年12月25日 · PCSK1N (Proprotein Convertase Subtilisin/Kexin Type 1 Inhibitor) is a Protein Coding gene. Diseases associated with PCSK1N include Parkinsonism and Breast Lipoma. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and endopeptidase inhibitor activity.

2025年1月4日 · Gene ID: 27344, updated on 4-Jan-2025. The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further …

2025年1月4日 · The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]

Specifically expressed in neuroendocrine tissue and brain. Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas. Manually selected location of the protein positivity, observed by immunofluorescence staining in mouse brain. Synapse in …

这个基因编码的蛋白质作为前激素转换酶1的抑制剂发挥作用，调节神经内分泌肽前体的蛋白水解切割。 前蛋白进一步加工成多个短肽。 这个基因内的多态性可能与肥胖症有关。 [RefSeq，2013年8月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 该模块正在开发中，请耐心等待我们的数据更新。 这个基因编码的蛋白质作为前激素转换酶1的抑制剂发挥作用，调节神经内分泌肽前体的蛋白水解切割。 前蛋白进一步加工成多个短肽。 这个基因内的多态性 …

PCSK1N is likely to be part of the adaptive response to ER stress, potentially conferring a survival advantage to the corticotroph tumor cell in conjunction with other proteins. PCSK1N is higher in SCA compared with FCA, and associated with corticotroph cell markers and tumor size.

neuronal proSAAS plays an important role in proteostatic processes. Cloning of proSAAS homologs in Danio and Xenopus identifies conserved, putatively functional areas. ProSAAS or proSAAS-like molecules are trapped within tau fibrils and accumulate in tau inclusions in patients with Alzheimer's disease and parkinsonism-dementia complex.

该基因编码枯草杆菌蛋白酶样原蛋白转化酶家族的一个成员，其中包括通过分泌途径的受调节或组成性分支处理蛋白质和肽前体运输的蛋白酶。 编码的蛋白质在 ER 中经历初始自催化处理事件以生成异二聚体，该异二聚体离开 ER 并分类到亚细胞区室，在那里甚至发生第二次自催化并获得催化活性。 蛋白酶被包装到致密的核心分泌颗粒中并被激活，并在神经内分泌系统和大脑中表达。 该基因编码七个碱性氨基酸特异性成员之一，这些成员在单个或成对的碱性残基处切割其底物。 …

2024年12月25日 · PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1) is a Protein Coding gene. Diseases associated with PCSK1 include Proprotein Convertase 1/3 Deficiency and Body Mass Index Quantitative Trait Locus 12. Among its related pathways are Incretin synthesis, secretion, and inactivation and Peptide hormone metabolism.

关于 pcsk1n Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,831,096-48,835,610 (from NCBI) This gene has 2 transcripts (splice variants) and 78 orthologues.