"SAM Domain and HD Domain-Containing Protein 1" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A host restriction triphosphorylhydrolase and dNTPase that contains an N-terminal STERILE ALPHA MOTIF and central, conserved ASPARTATE and HISTIDINE (HD) domain. It acts on single-stranded RNA, yielding deoxynucleosides and triphosphate, and functions in anti-viral defense through its dNTPase activity, reducing cellular dNTP levels below what is required for retroviral reverse transcription in DENDRITIC CELLS and MYELOID CELLS. It also has RIBONUCLEASE activity which blocks early replication of retroviruses such as HIV-1. Mutations in the SAMHD1 gene are associated with type 5 Aicardi-Goutieres syndrome (AGS5) and type 2 chilblain LUPUS (CHBL2).
Descriptor ID |
D000076106
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MeSH Number(s) |
D08.811.277.040.725 D08.811.277.352.700.843
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Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "SAM Domain and HD Domain-Containing Protein 1".
Below are MeSH descriptors whose meaning is more specific than "SAM Domain and HD Domain-Containing Protein 1".
This graph shows the total number of publications written about "SAM Domain and HD Domain-Containing Protein 1" by people in this website by year, and whether "SAM Domain and HD Domain-Containing Protein 1" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2010 | 0 | 2 | 2 |
2013 | 0 | 1 | 1 |
2014 | 0 | 2 | 2 |
2022 | 0 | 1 | 1 |
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Below are the most recent publications written about "SAM Domain and HD Domain-Containing Protein 1" by people in Profiles.
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Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner. J Exp Med. 2023 01 02; 220(1).
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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct; 164A(10):2510-3.
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SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis. 2015 Mar; 74(3):e17.
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Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response. Cell Rep. 2013 Aug 29; 4(4):689-96.
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Cerebral arterial stenoses and stroke: novel features of Aicardi-Gouti?res syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010 Nov; 31(11):E1836-50.
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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti?res syndrome. Arthritis Rheum. 2010 May; 62(5):1469-77.