SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
2013-05-01 AffiliationIdentity
HGNC
LOCATION
20q11.23
LOCUSID
ALIAS
CHBL2,DCIP,HDDC1,MOP-5,SBBI88,hSAMHD1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25939
MIM: 606754
HGNC: 15925
Ensembl: ENSG00000101347
Variants:
dbSNP: 25939
ClinVar: 25939
TCGA: ENSG00000101347
COSMIC: SAMHD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445301 | Peripheral Nervous System Diseases | Disease | ClinicalAnnotation | associated | PD | 30273369 | |
| PA447230 | HIV | Disease | ClinicalAnnotation | associated | PD | 30273369 | |
| PA451494 | stavudine | Chemical | ClinicalAnnotation | associated | PD | 30273369 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38041217 | 2024 | SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome. | 0 |
| 38367301 | 2024 | SAMHD1 dysfunction induces IL-34 expression via NF-κB p65 in neuronal SH-SY5Y cells. | 0 |
| 38041217 | 2024 | SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome. | 0 |
| 38367301 | 2024 | SAMHD1 dysfunction induces IL-34 expression via NF-κB p65 in neuronal SH-SY5Y cells. | 0 |
| 36689724 | 2023 | SAMHD1 single nucleotide polymorphisms impact outcome in children with newly diagnosed acute myeloid leukemia. | 3 |
| 36845138 | 2023 | SAMHD1 expression modulates innate immune activation and correlates with ovarian cancer prognosis. | 0 |
| 36934410 | 2023 | SAMHD1 restricts the deoxyguanosine triphosphate pool contributing to telomere stability in telomerase-positive cells. | 1 |
| 37009792 | 2023 | SAMHD1-induced endosomal FAK signaling promotes human renal clear cell carcinoma metastasis by activating Rac1-mediated lamellipodia protrusion. | 2 |
| 37037311 | 2023 | Purified recombinant lentiviral Vpx proteins maintain their SAMHD1 degradation efficiency in resting CD4(+) T cells. | 1 |
| 37100289 | 2023 | The host antiviral protein SAMHD1 suppresses NF-κB activation by interacting with the IKK complex during inflammatory responses and viral infection. | 1 |
| 37213666 | 2023 | Recombinant Klotho attenuates IFNγ receptor signaling and SAMHD1 expression through blocking NF-κB translocation in glomerular mesangial cells. | 0 |
| 37246644 | 2023 | Protein oxidation increases SAMHD1 binding ssDNA via its regulatory site. | 0 |
| 37328105 | 2023 | SAMHD1 impairs type I interferon induction through the MAVS, IKKε, and IRF7 signaling axis during viral infection. | 1 |
| 37781035 | 2023 | Activation of STING by SAMHD1 Deficiency Promotes PANoptosis and Enhances Efficacy of PD-L1 Blockade in Diffuse Large B-cell Lymphoma. | 2 |
| 37800914 | 2023 | Gene editing of SAMHD1 in macrophage-like cells reveals complex relationships between SAMHD1 phospho-regulation, HIV-1 restriction, and cellular dNTP levels. | 1 |
Citation
Dessen P
SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/gene/53284/samhd1-(sam-and-hd-domain-containing-deoxynucleoside-triphosphate-triphosphohydrolase-1)
