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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Chromosome 20 Β· 20q11.23
NCBI Gene: 25939Ensembl: ENSG00000101347.11HGNC: HGNC:15925UniProt: A0A2R8YCS7
361PubMed Papers
22Diseases
0Drugs
137Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA nuclease activitynucleic acid bindingsingle-stranded DNA bindingRNA bindingAicardi-Goutières syndromeAicardi-Goutieres syndromeAicardi-Goutieres syndrome 5neoplasm
✦AI Summary

SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase that serves dual functions in cellular defense and DNA repair. As a host restriction factor, SAMHD1's dNTPase activity depletes cellular dNTP pools to levels insufficient for retroviral reverse transcription, thereby blocking HIV-1 infection in dendritic and myeloid cells 1. The protein also suppresses LINE-1 retrotransposon activity through this mechanism 2. Beyond antiviral defense, SAMHD1 functions as a critical regulator of DNA replication fork stability during S phase, promoting resection of stalled or reversed replication forks by stimulating MRE11 exonuclease activity and activating the ATR-CHK1 checkpoint pathway 3. This replication fork processing function is essential for preventing chr20 inflammation, as SAMHD1 depletion leads to cytosolic accumulation of single-stranded DNA fragments that activate the cGAS-STING pathway and induce type I interferon production 3. Phosphorylation at Thr-592 acts as a regulatory switch, inhibiting dNTPase activity while promoting DNA end resection functions. SAMHD1 mutations cause Aicardi-Goutières syndrome, a severe inflammatory encephalopathy characterized by elevated interferon signatures 45. Additionally, SAMHD1 dysfunction contributes to NLRP3 inflammasome hyperactivation in obesity through disrupted nucleotide metabolism 6.

Sources cited
1
SAMHD1 restricts HIV-1 infection by depleting dNTP pools to interfere with reverse transcription
PMID: 26733158
2
SAMHD1 suppresses LINE-1 retrotransposon activity and has diverse roles in virology and immunology
PMID: 32244340
3
SAMHD1 promotes degradation of nascent DNA at stalled replication forks and prevents interferon induction
PMID: 29670289
4
SAMHD1 mutations cause Aicardi-Goutières syndrome with severe clinical phenotypes
PMID: 25604658
5
AGS patients with SAMHD1 mutations show elevated interferon signatures
PMID: 24183309
6
SAMHD1 dysfunction in obesity leads to NLRP3 inflammasome hyperactivation through disrupted nucleotide metabolism
PMID: 41538457
Disease Associationsβ“˜22
Aicardi-Goutières syndromeOpen Targets
0.81Strong
Aicardi-Goutieres syndromeOpen Targets
0.76Strong
Aicardi-Goutieres syndrome 5Open Targets
0.76Strong
neoplasmOpen Targets
0.54Moderate
chilblain lupus 2Open Targets
0.54Moderate
type 1 interferonopathyOpen Targets
0.47Moderate
genetic disorderOpen Targets
0.47Moderate
chilblain lupusOpen Targets
0.46Moderate
familial chilblain lupusOpen Targets
0.37Weak
Moyamoya diseaseOpen Targets
0.37Weak
SAMHD1-related type 1 interferonopathyOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
cerebral palsyOpen Targets
0.33Weak
multiple myelomaOpen Targets
0.29Weak
joint diseaseOpen Targets
0.28Weak
crystal arthropathyOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.27Weak
skin neoplasmOpen Targets
0.26Weak
hematopoietic and lymphoid system neoplasmOpen Targets
0.18Weak
male reproductive system neoplasmOpen Targets
0.16Weak
Aicardi-Goutieres syndrome 5UniProt
Chilblain lupus 2UniProt
Pathogenic Variants137
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|not provided|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β˜…β˜…β˜†β˜†2026β†’ Residue 145
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)Pathogenic
not provided|Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β˜…β˜…β˜†β˜†2026β†’ Residue 448
NM_015474.4(SAMHD1):c.1062+1G>TPathogenic
Aicardi-Goutieres syndrome 5
β˜…β˜…β˜†β˜†2026
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Chilblain lupus 2;Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 194
NM_015474.4(SAMHD1):c.626-1G>CPathogenic
Aicardi-Goutieres syndrome 5|not provided|Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2026
NM_015474.4(SAMHD1):c.1411-2A>GPathogenic
Aicardi-Goutieres syndrome 5|not provided|SAMHD1-related disorder|Chilblain lupus 2;Aicardi-Goutieres syndrome 5
β˜…β˜…β˜†β˜†2026
NM_015474.4(SAMHD1):c.664_673del (p.Ile222fs)Pathogenic
Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Aicardi-Goutieres syndrome 5
β˜…β˜…β˜†β˜†2026β†’ Residue 222
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β˜…β˜…β˜†β˜†2025β†’ Residue 492
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)Pathogenic
Aicardi-Goutieres syndrome 5|Chilblain lupus 2|Aicardi Goutieres syndrome|not provided|Chilblain lupus 2;Aicardi-Goutieres syndrome 5
β˜…β˜…β˜†β˜†2025β†’ Residue 201
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 143
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 23
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)Likely pathogenic
Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5
β˜…β˜…β˜†β˜†2025β†’ Residue 290
NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro)Likely pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 145
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Inborn genetic diseases|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 134
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)Pathogenic
Aicardi-Goutieres syndrome 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 442
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)Pathogenic
Aicardi-Goutieres syndrome 5|not provided|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β˜…β˜…β˜†β˜†2025β†’ Residue 216
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 551
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|Chilblain lupus 2;Aicardi-Goutieres syndrome 5
β˜…β˜…β˜†β˜†2025β†’ Residue 235
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Chilblain lupus 2;Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 220
View on ClinVar β†—
Related Genes
CCNA2Protein interaction100%CCNL2Protein interaction100%CUL4AProtein interaction100%CDK1Protein interaction99%IRF3Protein interaction97%ADARProtein interaction97%
Tissue Expression6 tissues
Lung
100%
Heart
52%
Ovary
50%
Brain
38%
Bone Marrow
26%
Liver
16%
Gene Interaction Network
Click a node to explore
SAMHD1CCNA2CCNL2CUL4ACDK1IRF3ADAR
PROTEIN STRUCTURE
Preparing viewer…
PDB6DWD Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.49–0.89]
RankingsWhere SAMHD1 stands among ~20K protein-coding genes
  • #855of 20,598
    Most Researched361 Β· top 5%
  • #562of 5,498
    Most Pathogenic Variants137 Β· top quartile
  • #7,950of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedSAMHD1
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
PMID: 25604658
Am J Med Genet A Β· 2015
1.00
2
Nucleotide metabolic rewiring enables NLRP3 inflammasome hyperactivation in obesity.
PMID: 41538457
Science Β· 2026
0.90
3
SAMHD1 Functions and Human Diseases.
PMID: 32244340
Viruses Β· 2020
0.80
4
Functional organization of human SAMHD1 and mechanisms of HIV-1 restriction.
PMID: 26733158
Biol Chem Β· 2016
0.70
5
SAMHD1 … and Viral Ways around It.
PMID: 33801276
Viruses Β· 2021
0.68