======= SAMHD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SAMHD1
  * **<color #00a2e8>Official Name</color>**: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=25939|25939]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y3Z3|Q9Y3Z3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SAMHD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SAMHD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606754|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|SAM 2|
|HD|
|SAM 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
|purine nucleoside triphosphate metabolic process|
|response to type I interferon|
|nucleoside phosphate catabolic process|
|negative regulation of response to biotic stimulus|
|protein homotetramerization|
|nucleoside triphosphate metabolic process|
|double-strand break repair via homologous recombination|
|recombinational repair|
|nucleobase-containing small molecule biosynthetic process|
|single-stranded DNA binding|
|DNA-dependent DNA replication|
|organophosphate catabolic process|
|negative regulation of immune response|
|protein tetramerization|
|immunoglobulin production|
|RNA phosphodiester bond hydrolysis|
|regulation of cytokine-mediated signaling pathway|
|regulation of response to cytokine stimulus|
|production of molecular mediator of immune response|
|double-strand break repair|
|defense response to virus|
|carbohydrate derivative catabolic process|
|nucleic acid binding|
|negative regulation of defense response|
|DNA replication|
|negative regulation of multi-organism process|
|DNA recombination|
|response to virus|
|nucleic acid phosphodiester bond hydrolysis|
|purine nucleotide metabolic process|
|protein homooligomerization|
|negative regulation of response to external stimulus|
|purine-containing compound metabolic process|
|nucleobase-containing compound catabolic process|
|GTP binding|
|heterocycle catabolic process|
|cellular nitrogen compound catabolic process|
|negative regulation of immune system process|
|aromatic compound catabolic process|
|nucleotide metabolic process|
|nucleoside phosphate metabolic process|
|regulation of innate immune response|
|organic cyclic compound catabolic process|
|DNA repair|
|protein complex oligomerization|
|regulation of response to biotic stimulus|
|nucleobase-containing small molecule metabolic process|
|small molecule biosynthetic process|
|immune system development|
|cytokine-mediated signaling pathway|
|DNA metabolic process|
|regulation of defense response|
|innate immune response|
|regulation of multi-organism process|
|cellular response to DNA damage stimulus|
|zinc ion binding|
|organophosphate metabolic process|
|defense response to other organism|
|cellular response to cytokine stimulus|
|carbohydrate derivative metabolic process|
|organonitrogen compound catabolic process|
|identical protein binding|
|immune effector process|
|regulation of response to external stimulus|
|nucleobase-containing compound biosynthetic process|
|response to cytokine|
|regulation of immune response|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of signal transduction|
|response to other organism|
|organic cyclic compound biosynthetic process|
|response to external biotic stimulus|
|response to biotic stimulus|
|defense response|
|negative regulation of cell communication|
|negative regulation of signaling|
|RNA binding|
|regulation of response to stress|
|protein-containing complex assembly|
|negative regulation of response to stimulus|
|cellular nitrogen compound biosynthetic process|
|regulation of immune system process|
|RNA metabolic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|small molecule metabolic process|
|macromolecule biosynthetic process|
|organic substance catabolic process|
|cellular catabolic process|
|protein-containing complex subunit organization|
|immune response|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp426|FBS-Wisent 0.1 R07 exp426]]|-2.71|
|[[:results:exp45|Docetaxel 0.002μM R01 exp45]]|1.73|
|[[:results:exp360|Genistein 15μM R07 exp360]]|1.78|
|[[:results:exp190|Vincristine 0.0005μM R04 exp190]]|1.89|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|2.01|
|[[:results:exp460|BML-284 0.09μM R08 exp460]]|2.01|
|[[:results:exp215|Colchicine 0.009μM R05 exp215]]|2.11|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|2.11|
|[[:results:exp231|Epothilone-B 0.0015μM R05 exp231]]|2.26|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|2.58|
|[[:results:exp184|Ixabepilone 0.004 to 0.005μM on day4 R04 exp184]]|2.95|
|[[:results:exp228|Demecolcine 0.03μM R05 exp228]]|3.09|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|4.5|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:atp1a1|ATP1A1]]|0.408|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 2513
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.14 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SAMHD1 Expression in NALM6 Cells: 4.14'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>