SAM Domain and HD Domain-Containing Protein 1 - CISMeF
SAM Domain and HD Domain-Containing Protein 1MeSH Descriptor
Preferred Label : SAM Domain and HD Domain-Containing Protein 1;
MeSH definition : 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).;
MeSH synonym : SAM Domain and HD Domain Containing Protein 1; SAMHD1 dNTPase; SAMHD1 Deoxynucleoside Triphosphate Triphosphohydrolase; SAMHD1 Protein;
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).