Concept information
Preferred term
SAM Domain and HD Domain-Containing Protein 1
Type
-
Topical Descriptor
Broader concept
Entry terms
- SAMHD1 Deoxynucleoside Triphosphate Triphosphohydrolase
- SAMHD1 dNTPase
- SAMHD1 Protein
Scope note
- 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).
History note
- 2018
In other languages
-
Finnish
-
SAM- ja HD-rakenteet sisältävä proteiini 1
-
SAM-domeenin ja HD-domeenin sisältävä proteiini 1
URI
http://www.yso.fi/onto/mesh/D000076106
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