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

Gene ID: 56045, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in spleen adult (RPKM 38.6), lung adult (RPKM 21.3) and 26 other tissues See more
Orthologs
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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 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)

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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_001139520.2NP_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)