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 · Genetic mutations in SAMHD1 induce a rare inflammatory encephalopathy called Aicardi-Goutières syndrome (AGS), which phenotypically resembles viral infection. Recent publications have identified diverse roles for SAMHD1 in double-stranded break repair, genome stability, and the replication stress response through interferon signaling.

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...

Human SAMHD1 is a 65-kDa protein comprised of three structural domains (Figure 2): (1) An N-terminus SAM domain preceded by a nuclear localization sequence (11 KRPR 14), (2) a central, catalytic HD domain containing the conserved metal-coordinating histidine and aspartic acid residues essential for dNTPase function [11], and (3) a C-terminus reg...

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.

SAMHD1 is a deoxynucleoside triphosphate (dNTP) triphosphohydrolase that cleaves physiological dNTPs into deoxyribonucleosides and inorganic triphosphate. Although it has been postulated that SAMHD1 sensitizes cancer cells to nucleoside-analog derivatives through the depletion of competing dNTPs, we show here that SAMHD1 reduces Ara-C ...

2025年1月4日 · SAMHD1 may have a function in DNA repair and the presence of SAMHD1 mutations in chronic lymphocytic leukemia promotes leukemia development. Multiple regions in SAMHD1 are critical for Vpx-mediated nuclear degradation.

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.

2022年9月22日 · Our results establish SAMHD1 as a key regulator of cellular RNA homeostasis and demonstrate that buffering of immunogenic self RNA by condensates regulates innate immune responses.