SAMHD1

Gene Information

Official Symbol: SAMHD1
Official Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Aliases and Previous Symbols: N/A
Entrez ID: 25939
UniProt: Q9Y3Z3
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010].
UniProt Summary: Host restriction nuclease involved in defense response to virus. Has dNTPase activity and reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur. Blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May play a role in mediating proinflammatory responses to TNF-alpha signaling (PubMed:18546154, PubMed:19525956, PubMed:22056990, PubMed:24336198, PubMed:28229507). Has ribonuclease activity, acting on single-stranded RNA. This activity is essential for H1V-1 restriction (PubMed:25038827). {ECO:0000269|PubMed:18546154, ECO:0000269|PubMed:19525956, ECO:0000269|PubMed:22056990, ECO:0000269|PubMed:24336198, ECO:0000269|PubMed:25038827, ECO:0000269|PubMed:28229507}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
FBS-Wisent 0.1 R07 exp426	-2.71
Docetaxel 0.002μM R01 exp45	1.73
Genistein 15μM R07 exp360	1.78
Vincristine 0.0005μM R04 exp190	1.89
Aphidicolin 0.4μM R08 exp440	2.01
BML-284 0.09μM R08 exp460	2.01
Colchicine 0.009μM R05 exp215	2.11
UM131593 0.2μM R03 exp106	2.11
Epothilone-B 0.0015μM R05 exp231	2.26
Vinblastine 0.002μM R01 exp60	2.58
Ixabepilone 0.004 to 0.005μM on day4 R04 exp184	2.95
Demecolcine 0.03μM R05 exp228	3.09
Taxol 0.004μM R03 exp103	4.5

Global Fraction of Cell Lines Where Essential: 2/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	1/16
kidney	0/21
liver	0/20
lung	1/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 2513
Expression level (log2 read counts): 4.14

Expression Distribution

SAM 2
HD
SAM 1

triphosphoric monoester hydrolase activity
dGTP binding
dGTPase activity
DNA strand resection involved in replication fork processing
dGTP catabolic process
dATP catabolic process
dGTP metabolic process
purine deoxyribonucleoside triphosphate catabolic process
dATP metabolic process
purine deoxyribonucleotide catabolic process
purine nucleoside triphosphate catabolic process
deoxyribonucleoside triphosphate catabolic process
purine deoxyribonucleoside triphosphate metabolic process
tetraspanin-enriched microdomain
purine deoxyribonucleotide metabolic process
nucleoside triphosphate catabolic process
negative regulation of type I interferon-mediated signaling pathway
somatic hypermutation of immunoglobulin genes
deoxyribonucleoside triphosphate metabolic process
somatic diversification of immune receptors via somatic mutation
deoxyribonucleotide catabolic process
ribonuclease activity
deoxyribose phosphate catabolic process
2-deoxyribonucleotide metabolic process
replication fork processing
deoxyribose phosphate metabolic process
regulation of type I interferon-mediated signaling pathway
deoxyribonucleotide metabolic process
somatic diversification of immunoglobulins
DNA-dependent DNA replication maintenance of fidelity
purine nucleotide catabolic process
somatic diversification of immune receptors
purine-containing compound catabolic process
negative regulation of innate immune response
site of double-strand break
negative regulation of cytokine-mediated signaling pathway
negative regulation of response to cytokine stimulus
nucleotide catabolic process
cellular response to type I interferon
type I interferon signaling pathway