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

    Gene ID: 56045, updated on 9-Dec-2024

    Summary

    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 negative regulation of type I interferon-mediated signaling pathway; protein homotetramerization; and somatic hypermutation of immunoglobulin genes. 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, Dec 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 38.6), lung adult (RPKM 21.3) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Samhd1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA nuclease activity ISO
    Inferred from Sequence Orthology
    more info
     
    NOT enables RNA nuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables dGTP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables dGTP binding ISS
    Inferred from Sequence or Structural Similarity
    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 deoxynucleoside triphosphate hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables single-stranded DNA binding ISS
    Inferred from Sequence or Structural Similarity
    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
     
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA damage response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA strand resection involved in replication fork processing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA strand resection involved in replication fork processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dATP catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in dATP catabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 dGTP catabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 defense response to virus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in deoxyribonucleotide catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in deoxyribonucleotide catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in innate immune response 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 regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm 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 nucleus ISS
    Inferred from Sequence or Structural Similarity
    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 site of double-strand break ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in tetraspanin-enriched microdomain IEA
    Inferred from Electronic Annotation
    more info
     
    located_in tetraspanin-enriched microdomain ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001139520.2NP_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:42111
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:116495
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
    2. NM_001370610.1NP_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:42111
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:116219
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
    3. NM_018851.4NP_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:42111
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:116573
      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)