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    Samhd1 SAM domain and HD domain, 1 [ Mus musculus (house mouse) ]

    Gene ID: 56045, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Samhd1provided by MGI
    Official Full Name
    SAM domain and HD domain, 1provided by MGI
    Primary source
    MGI:MGI:1927468
    See related
    Ensembl:ENSMUSG00000027639 AllianceGenome:MGI:1927468
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mg11; mSAMHD1; E330031J07Rik
    Summary
    Enables dGTPase activity. Involved in several processes, including dATP catabolic process; negative regulation of type I interferon-mediated signaling pathway; and protein homotetramerization. Predicted to be located in nucleoplasm; site of double-strand break; and tetraspanin-enriched microdomain. Predicted to be active in nucleus. Is expressed in left lung; right lung; and thymus primordium. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome; Chilblain lupus; acute myeloid leukemia; hepatitis B; and hepatitis C. Orthologous to human SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen adult (RPKM 38.6), lung adult (RPKM 21.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 H1; 2 78.0 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (156939454..156977016, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (157097534..157135096, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene DSN1 homolog, MIS12 kinetochore complex component Neighboring gene microtubule crosslinking factor 2 Neighboring gene STARR-seq mESC enhancer starr_06195 Neighboring gene STARR-seq mESC enhancer starr_06196 Neighboring gene TBC/LysM associated domain containing 2 Neighboring gene STARR-seq mESC enhancer starr_06197 Neighboring gene STARR-positive B cell enhancer ABC_E6008 Neighboring gene STARR-positive B cell enhancer ABC_E7876 Neighboring gene STARR-positive B cell enhancer ABC_E2649 Neighboring gene STARR-seq mESC enhancer starr_06198 Neighboring gene RB transcriptional corepressor like 1 Neighboring gene Small nuclear ribonucleoprotein Sm D1 (snRNP core protein D1) (Sm-D1) (Sm-D autoantigen) Neighboring gene STARR-positive B cell enhancer ABC_E4514 Neighboring gene STARR-positive B cell enhancer ABC_E7877 Neighboring gene predicted gene, 57690

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner. Schumann T, et al. J Exp Med, 2023 Jan 2. PMID 36346347, Free PMC Article
    2. SAMHD1 Promotes the Antiretroviral Adaptive Immune Response in Mice Exposed to Lipopolysaccharide. Barrett B, et al. J Immunol, 2022 Jan 15. PMID 34893529, Free PMC Article
    3. Elimination of rNMPs from mitochondrial DNA has no effect on its stability. Wanrooij PH, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513727, Free PMC Article
    4. Induction of Samhd1 by interferon gamma and lipopolysaccharide in murine macrophages requires IRF1. Valverde-Estrella L, et al. Eur J Immunol, 2020 Sep. PMID 32270872
    5. Phosphorylation of murine SAMHD1 regulates its antiretroviral activity. Wittmann S, et al. Retrovirology, 2015 Dec 15. PMID 26667483, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SAMHD1 Attenuates Acute Inflammation by Maintaining Mitochondrial Function in Macrophages via Interaction with VDAC1.
      Title: SAMHD1 Attenuates Acute Inflammation by Maintaining Mitochondrial Function in Macrophages via Interaction with VDAC1.
    2. Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.
      Title: Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.
    3. SAMHD1 Promotes the Antiretroviral Adaptive Immune Response in Mice Exposed to Lipopolysaccharide.
      Title: SAMHD1 Promotes the Antiretroviral Adaptive Immune Response in Mice Exposed to Lipopolysaccharide.
    4. SAMHD1 Limits the Efficacy of Forodesine in Leukemia by Protecting Cells against the Cytotoxicity of dGTP.
      Title: SAMHD1 Limits the Efficacy of Forodesine in Leukemia by Protecting Cells against the Cytotoxicity of dGTP.
    5. Induction of Samhd1 by interferon gamma and lipopolysaccharide in murine macrophages requires IRF1.
      Title: Induction of Samhd1 by interferon gamma and lipopolysaccharide in murine macrophages requires IRF1.
    6. The phosphorylation of SAMHD1 in infected cells correlated with a reduced level of dNTP hydrolase activity and the loss of viral restriction.
      Title: A viral kinase counteracts in vivo restriction of murine cytomegalovirus by SAMHD1.
    7. SAMHD1 inhibits NF-kappaB activation by interacting with NF-kappaB1/2 and reducing phosphorylation of the NF-kappaB inhibitory protein IkappaBalpha. SAMHD1 also interacts with the inhibitor-kappaB kinase epsilon (IKKepsilon) and IFN regulatory factor 7 (IRF7), leading to the suppression of the IFN-I induction pathway by reducing IKKepsilon-mediated IRF7 phosphorylation. SAMHD1 down-regulates innate immune responses to ...
      Title: SAMHD1 suppresses innate immune responses to viral infections and inflammatory stimuli by inhibiting the NF-κB and interferon pathways.
    8. SAMHD1's restriction of dNTP supply enhances AID's mutagenicity and that the evolution of Ig hypermutation included the repurposing of antiviral mechanisms based on dNTP starvation.
      Title: SAMHD1 enhances immunoglobulin hypermutation by promoting transversion mutation.
    9. SAMHD1 crystal structure delineates the SAMHD1 allosteric activation process that governs SAMHD1 enzymatic activities.
      Title: The SAM domain of mouse SAMHD1 is critical for its activation and regulation.
    10. provide genetic evidence that cell-autonomous control of lentivirus infection in myeloid cells by SAMHD1 limits virus-induced production of interferons and the induction of co-stimulatory markers
      Title: Restriction by SAMHD1 Limits cGAS/STING-Dependent Innate and Adaptive Immune Responses to HIV-1.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dGTP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables dGTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dGTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dGTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables triphosphoric monoester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables triphosphoric monoester hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA strand resection involved in replication fork processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dATP catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dGTP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dGTP catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in deoxyribonucleotide catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of type I interferon-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homotetramerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of innate immune response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in site of double-strand break ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in tetraspanin-enriched microdomain ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    deoxynucleoside triphosphate triphosphohydrolase SAMHD1
    Names
    IFN-gamma induced
    SAM domain and HD domain-containing protein 1
    dNTPase
    interferon-gamma-inducible protein Mg11
    NP_001132992.2
    NP_001357539.1
    NP_061339.4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001139520.2 → NP_001132992.2  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional frame-shifting exon in the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK171565, BC067198, DV645873
      Consensus CDS
      CCDS50783.1
      UniProtKB/TrEMBL
      Q3TCJ7
      Related
      ENSMUSP00000124935.2, ENSMUST00000139263.8
      Conserved Domains (2) summary
      cd09508
      Location:42 → 111
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:116 → 495
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]

    2. NM_001370610.1 → NP_001357539.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK152815, AK171565, AL669828
      UniProtKB/TrEMBL
      Q3U754
      Related
      ENSMUST00000149313.8
      Conserved Domains (2) summary
      cd09508
      Location:42 → 111
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:116 → 219
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]

    3. NM_018851.4 → NP_061339.4  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC067198, DV645873
      Consensus CDS
      CCDS16973.2
      UniProtKB/Swiss-Prot
      E9Q0K6, F8WJE0, Q3U5X2, Q543A4, Q60710, Q91VK8
      Related
      ENSMUSP00000059717.4, ENSMUST00000057725.10
      Conserved Domains (2) summary
      cd09508
      Location:42 → 111
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:116 → 573
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      156939454..156977016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q60710.3 GenPept UniProtKB/Swiss-Prot:Q60710

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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