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    SAMHD1 SAM domain and HD domain 1 [ Homo sapiens (human) ]

    Gene ID: 25939, updated on 24-Aug-2015
    Official Symbol
    SAMHD1provided by HGNC
    Official Full Name
    SAM domain and HD domain 1provided by HGNC
    Primary source
    HGNC:HGNC:15925
    See related
    HPRD:08418; MIM:606754
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DCIP; CHBL2; HDDC1; MOP-5; SBBI88
    Summary
    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]
    Orthologs
    See SAMHD1 in Epigenomics, MapViewer
    Location:
    20pter-q12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (36891824..36951843, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35519285..35580246, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene DSN1 homolog, MIS12 kinetochore complex component Neighboring gene suppressor of glucose, autophagy associated 1 Neighboring gene TBC/LysM-associated domain containing 2 Neighboring gene retinoblastoma-like 1 Neighboring gene ribosomal protein S3A pseudogene 3 Neighboring gene ribosomal protein S27a pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of SAMHD1 by siRNA enhances HIV-1 infectivity in mature monocyte-derived dendritic cells or macrophages PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag HIV-1-exposed monocyte-derived dendritic cells induce weak secretion of IFN-gamma and low amounts of intracellular Gag expression in the presence of SAMHD1 PubMed
    gag HIV-1 Gag processing and formation of a mature virion are required to allow the release of Vpx, leading to cellular SAMHD1 degradation in the nucleus PubMed
    capsid gag SAMHD1 expression is decreased during T-cell proliferation and is associated with higher susceptibility to HIV-1 infection in terms of percentages of HIV-1 p24 positive cells PubMed
    reverse transcriptase gag-pol SAMHD1 restricts HIV-1 replication by depleting the dNTP pool, which is required for the synthesis of the viral DNA by HIV-1 reverse transcriptase (RT) PubMed
    gag-pol SAMHD1 degrades deoxynucleoside triphosphates (dNTPs) to deprive viruses of dNTPs, and is counteracted by HIV-2/SIV Vpx protein PubMed
    gag-pol SAMHD1 restricts replication of the HIV-1 RT mutant V148I, which has lower affinity for dNTPs compared to WT, in cultured cells and in mice PubMed

    Go to the HIV-1, Human Interaction Database

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dGTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dGTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    dATP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dGTP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    intracellular NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    deoxynucleoside triphosphate triphosphohydrolase SAMHD1
    Names
    SAM domain and HD domain-containing protein 1
    dNTPase
    dendritic cell-derived IFNG-induced protein
    monocyte protein 5
    NP_056289.2

    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.

    Genomic

    1. NG_017059.1 RefSeqGene

      Range
      5001..65020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_281

    mRNA and Protein(s)

    1. NM_015474.3NP_056289.2  deoxynucleoside triphosphate triphosphohydrolase SAMHD1

      See identical proteins and their annotated locations for NP_056289.2

      Status: REVIEWED

      Source sequence(s)
      AB208944, AK027811, AK311150, DA351335
      Consensus CDS
      CCDS13288.1
      UniProtKB/TrEMBL
      Q59H15
      UniProtKB/Swiss-Prot
      Q9Y3Z3
      Conserved Domains (4) summary
      cd09508
      Location:41110
      SAM_HD; SAM domain of HD-phosphohydrolase
      smart00454
      Location:42109
      SAM; Sterile alpha motif
      COG1078
      Location:115504
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
      cd00077
      Location:162335
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

      Range
      36891824..36951843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260384.2XP_005260441.1  

      UniProtKB/Swiss-Prot
      Q9Y3Z3
      Conserved Domains (4) summary
      cd09508
      Location:41110
      SAM_HD; SAM domain of HD-phosphohydrolase
      smart00454
      Location:42109
      SAM; Sterile alpha motif
      COG1078
      Location:115503
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
      cd00077
      Location:162335
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
    2. XM_011528761.1XP_011527063.1  

      Conserved Domains (4) summary
      cd09508
      Location:41110
      SAM_HD; SAM domain of HD-phosphohydrolase
      smart00454
      Location:42109
      SAM; Sterile alpha motif
      COG1078
      Location:115504
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
      cd00077
      Location:162335
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      35421787..35482498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)