{"entity":{"id":"samhd1","kind":"target","name":"SAMHD1","aka":["SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","Deoxynucleoside triphosphate triphosphohydrolase SAMHD1","SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"tldr":"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.","summary":"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.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925"},{"label":"UniProt Q9Y3Z3","url":"https://www.uniprot.org/uniprotkb/Q9Y3Z3/entry"},{"label":"NCBI Gene 25939","url":"https://www.ncbi.nlm.nih.gov/gene/25939"},{"label":"Ensembl ENSG00000101347","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101347"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SAMHD1","role":["tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y3Z3","url":"https://www.uniprot.org/uniprotkb/Q9Y3Z3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SAMHD1","url":"https://www.intogen.org/search?gene=SAMHD1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:15925","ensembl":"ENSG00000101347","uniprot":"Q9Y3Z3","entrez":"25939","biology":"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).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/samhd1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"multiple-myeloma","kind":"cancer","name":"Multiple myeloma","route":"/cancers/multiple-myeloma/"}]}}