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SAMHD1 (Deoxynucleoside triphosphate triphosphohydrolase SAMHD1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks. Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity.
IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.
In plain words · SAMHD1 (Deoxynucleoside triphosphate triphosphohydrolase SAMHD1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.
SAMHD1 (Deoxynucleoside triphosphate triphosphohydrolase SAMHD1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks.
No product in this corpus aims at SAMHD1 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
First described 1998. Earliest sequence paper UniProt cites for the protein: Takayama et al, 1998, "Molecular and biological characterization of a novel monocyte protein, MOP-5". Source.
Sources: HGNC HGNC:15925 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9Y3Z3 (protein name, function text, keywords and locations (REST API)); IntOGen SAMHD1 (driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks. Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx. In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools. Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks. Location: Nucleus; Chromosome (UniProt). Locus 20q11.23 (HGNC).
Query for this target: (TITLE:"SAMHD1" OR ABSTRACT:"SAMHD1" OR TITLE:"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1" OR ABSTRACT:"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1" OR TITLE:"Deoxynucleoside triphosphate triphosphohydrolase SAMHD1" OR ABSTRACT:"Deoxynucleoside triphosphate triphosphohydrolase SAMHD1" OR TITLE:"SBBI88" OR ABSTRACT:"SBBI88" OR TITLE:"Mg11" OR ABSTRACT:"Mg11" OR TITLE:"HDDC1" OR ABSTRACT:"HDDC1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SAMHD1, not a curated reading list.