Format

Send to:

Choose Destination
    • Showing Current items.

    SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [ Homo sapiens (human) ]

    Gene ID: 25939, updated on 11-Jul-2021

    Summary

    Official Symbol
    SAMHD1provided by HGNC
    Official Full Name
    SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1provided by HGNC
    Primary source
    HGNC:HGNC:15925
    See related
    Ensembl:ENSG00000101347 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; hSAMHD1
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 54.7), spleen (RPKM 47.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SAMHD1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (36889773..36951708, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35518176..35580111, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene suppressor of glucose, autophagy associated 1 Neighboring gene RNA, 7SL, cytoplasmic 156, pseudogene Neighboring gene TBC/LysM-associated domain containing 2 Neighboring gene RB transcriptional corepressor like 1 Neighboring gene RPS3A pseudogene 3 Neighboring gene RPS27A pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 replication is restricted by SAMHD1 in dividing THP-1 monocytic cells as shown through genome editing with CRISPR/Cas9 or overexpression of SAMHD1 PubMed
    HIV-1 replication is restricted by SAMHD1 in monocyte-derived Langerhans cells and dendritic cells PubMed
    HIV-1 replication is restricted by SAMHD1, but addition of exogenous deoxynucleotides bypasses this restriction PubMed
    HIV-1 replication is restricted by SAMHD1 in monocyte-derived macrophage-like cells (PMA-treated U937 cells) PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dGTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dGTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables dGTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables deoxynucleoside triphosphate hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nucleic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables ribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables triphosphoric monoester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA strand resection involved in replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in RNA phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dATP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dGTP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in dGTP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in deoxyribonucleotide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type I interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somatic hypermutation of immunoglobulin genes ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tetraspanin-enriched microdomain IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    deoxynucleoside triphosphate triphosphohydrolase SAMHD1
    Names
    SAM domain and HD domain 1
    SAM domain and HD domain-containing protein 1
    dNTPase
    dendritic cell-derived IFNG-induced protein
    monocyte protein 5
    NP_001350658.1
    NP_001350662.1
    NP_056289.2

    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.

    Genomic

    1. NG_017059.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001363729.2NP_001350658.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB208944, AK027811, AK311150, AL079335, CA306490
      Consensus CDS
      CCDS86953.1
      Related
      ENSP00000262878.5, ENST00000262878.5
      Conserved Domains (2) summary
      cd09508
      Location:41110
      SAM_HD; SAM domain of HD-phosphohydrolase
      cl26231
      Location:115503
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
    2. NM_001363733.2NP_001350662.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK027811, AL079335, BE937520, BP252994, R26128
      Consensus CDS
      CCDS86954.1
      Related
      ENSP00000493928.1, ENST00000643918.1
      Conserved Domains (2) summary
      cd09508
      Location:41110
      SAM_HD; SAM domain of HD-phosphohydrolase
      cl26231
      Location:115504
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
    3. NM_015474.4NP_056289.2  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1

      See identical proteins and their annotated locations for NP_056289.2

      Status: REVIEWED

      Source sequence(s)
      AB208944, AK027811, AK311150, AL079335
      Consensus CDS
      CCDS13288.1
      UniProtKB/Swiss-Prot
      Q9Y3Z3
      UniProtKB/TrEMBL
      Q59H15
      Related
      ENSP00000493536.2, ENST00000646673.2
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      36889773..36951708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center