SAM domain and HD domain-containing protein 1 is a protein that in humans is encoded by the SAMHD1 gene. SAMHD1 is a cellular enzyme, responsible for blocking replication of HIV in dendritic cells, [5] macrophages, [6] monocytes [7] and resting CD4 + T lymphocytes. [8] .

2024年12月25日 · SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1) is a Protein Coding gene. Diseases associated with SAMHD1 include Chilblain Lupus 2 and Aicardi-Goutieres Syndrome 5. Among its related pathways are Metabolism of nucleotides and Cytokine Signaling in Immune system.

2020年3月31日 · Recent publications have identified diverse roles for SAMHD1 in double-stranded break repair, genome stability, and the replication stress response through interferon signaling. Finally, a series of SAMHD1 mutations were also reported in various cancer cell types while why SAMHD1 is mutated in these cancer cells remains to investigated.

2018年4月18日 · Here we show that SAMHD1 promotes degradation of nascent DNA at stalled replication forks in human cell lines by stimulating the exonuclease activity of MRE11. This function activates the...

SAMHD1 通过与 VDAC1 相互作用并维持线粒体功能来抑制 TLR4 诱导的急性炎症和巨噬细胞的 M1 极化，这概述了 LPS 刺激后 TLR 信号传导的新调节机制。 这些结果可以通过将全长野生型 SAMHD1 或其磷酸化模拟 T634D 突变体过表达到 Samhd1−/− RAW264.7 细胞中来挽救，而突变体 dNTP 水解酶功能剥夺的 H238A 和磷酸化消融的 T634A 则没有发挥同样的作用。 最后，co-IP 和免疫荧光测定证实 SAMHD1 与外线粒体膜定位蛋白、电压依赖性阴离子通道 1 (VDAC1) 相 …

2025年1月4日 · SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA. SAMHD1 associates with inflammation and vasculitis in paediatric-onset systemic lupus erythematosus. SAMHD1, positively regulated by KLF4, suppresses the proliferation of gastric cancer cells through MAPK p38 signaling pathway.

SAMHD1 is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of innate immunity is affirmed by mutations in the SAMHD1 gene that cause the severe autoimmune disease, Aicardi-Goutieres syndrome (AGS) and that are linked to cancer.

2022年9月22日 · How vast amounts of self RNA are shielded from immune recognition to prevent autoinflammation is not fully understood. Here, we show that human SAM-domain- and HD-domain-containing protein 1 (SAMHD1), one of the AGS-causing genes, functions as a single-stranded RNA (ssRNA) 3′exonuclease, the lack of which causes cellular RNA accumulation ...

The SAMHD1 gene provides instructions for making an enzyme that helps cut molecules called deoxynucleoside triphosphates (dNTPs). Learn about this gene and related health conditions.

2025年3月13日 · 人源SAMHD1蛋白(即包含SAM和HD结构域的I型蛋白)由我国著名免疫学家曹雪涛院士在2000年首次在人树突细胞中发现，并于2009年被认定是人体自身免疫疾病Aicardi-Goutières综合症(AGS)相关蛋白。