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    Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 311580, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Samhd1provided by RGD
    Official Full Name
    SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1provided by RGD
    Primary source
    RGD:1308369
    See related
    EnsemblRapid:ENSRNOG00000006418 AllianceGenome:RGD:1308369
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including dGTP binding activity; nucleic acid binding activity; and triphosphoric monoester hydrolase activity. Predicted to be involved in several processes, including DNA metabolic process; modulation by host of viral RNA genome replication; and purine deoxyribonucleoside triphosphate catabolic process. Predicted to be located in nucleoplasm; site of double-strand break; and tetraspanin-enriched microdomain. Predicted to be active in nucleus. 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, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 227.3), Lung (RPKM 78.0) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Samhd1 in Genome Data Viewer
    Location:
    3q42
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (166179742..166214448, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (145761549..145794420, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (153210829..153250705, complement)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene microtubule crosslinking factor 2 Neighboring gene TBC/LysM-associated domain containing 2 Neighboring gene RB transcriptional corepressor like 1 Neighboring gene 60S ribosomal protein L34 pseudogene Neighboring gene uncharacterized LOC134486195 Neighboring gene U7 small nuclear RNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Identification of natural splice variants of SAMHD1 in virus-infected HCC. Shi Y, et al. Oncol Rep, 2014 Feb. PMID 24317272
    2. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Rice GI, et al. Nat Genet, 2009 Jul. PMID 19525956, Free PMC Article
    3. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Goldstone DC, et al. Nature, 2011 Nov 6. PMID 22056990
    4. SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. Goncalves A, et al. Hum Mutat, 2012 Jul. PMID 22461318
    5. Mechanism of allosteric activation of SAMHD1 by dGTP. Ji X, et al. Nat Struct Mol Biol, 2013 Nov. PMID 24141705, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT enables RNA nuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables RNA nuclease activity ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables deoxynucleoside triphosphate hydrolase activity ISO
    Inferred from Sequence Orthology
    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 single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    involved_in modulation by host of viral RNA genome replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of type I interferon-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of viral life cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 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
    SAM domain and HD domain, 1
    SAM domain and HD domain-containing protein 1
    NP_001178672.1
    XP_038961015.1
    XP_038961016.1

    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_001191743.1 → NP_001178672.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1

      Status: VALIDATED

      Source sequence(s)
      CB806058, FN801895, JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A8I6ACW3, D3Z898
      Related
      ENSRNOP00000008961.6, ENSRNOT00000008961.9
      Conserved Domains (5) summary
      cd09508
      Location:40 → 109
      SAM_HD; SAM domain of HD-phosphohydrolase
      smart00454
      Location:43 → 106
      SAM; Sterile alpha motif
      COG1078
      Location:114 → 508
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
      cd00077
      Location:161 → 334
      HDc; Metal dependent phosphohydrolases with conserved 'HD' motif
      cl21457
      Location:497 → 591
      TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      166179742..166214448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039105087.2 → XP_038961015.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform X1

      UniProtKB/TrEMBL
      A0A8I6A3V5, A0A8I6ACW3
      Related
      ENSRNOP00000087823.1, ENSRNOT00000103535.2
      Conserved Domains (2) summary
      cd09508
      Location:40 → 109
      SAM_HD; SAM domain of HD-phosphohydrolase
      COG1078
      Location:114 → 508
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]

    2. XM_039105088.2 → XP_038961016.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform X2

      UniProtKB/TrEMBL
      A6JWR1
      Conserved Domains (1) summary
      COG1078
      Location:79 → 280
      YdhJ; HD superfamily phosphohydrolase [General function prediction only]
    Nucleotide Protein Strain
    Heading Accession and Version

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