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

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, Nov 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 38.6), lung adult (RPKM 21.3) and 26 other tissues See more
Orthologs: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SAMHD1 Attenuates Acute Inflammation by Maintaining Mitochondrial Function in Macrophages via Interaction with VDAC1.
Title: SAMHD1 Attenuates Acute Inflammation by Maintaining Mitochondrial Function in Macrophages via Interaction with VDAC1.
Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.
Title: Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.
SAMHD1 Promotes the Antiretroviral Adaptive Immune Response in Mice Exposed to Lipopolysaccharide.
Title: SAMHD1 Promotes the Antiretroviral Adaptive Immune Response in Mice Exposed to Lipopolysaccharide.
SAMHD1 Limits the Efficacy of Forodesine in Leukemia by Protecting Cells against the Cytotoxicity of dGTP.
Title: SAMHD1 Limits the Efficacy of Forodesine in Leukemia by Protecting Cells against the Cytotoxicity of dGTP.
Induction of Samhd1 by interferon gamma and lipopolysaccharide in murine macrophages requires IRF1.
Title: Induction of Samhd1 by interferon gamma and lipopolysaccharide in murine macrophages requires IRF1.
The phosphorylation of SAMHD1 in infected cells correlated with a reduced level of dNTP hydrolase activity and the loss of viral restriction.
Title: A viral kinase counteracts in vivo restriction of murine cytomegalovirus by SAMHD1.
SAMHD1 inhibits NF-kappaB activation by interacting with NF-kappaB1/2 and reducing phosphorylation of the NF-kappaB inhibitory protein IkappaBalpha. SAMHD1 also interacts with the inhibitor-kappaB kinase epsilon (IKKepsilon) and IFN regulatory factor 7 (IRF7), leading to the suppression of the IFN-I induction pathway by reducing IKKepsilon-mediated IRF7 phosphorylation. SAMHD1 down-regulates innate immune responses to ...
Title: SAMHD1 suppresses innate immune responses to viral infections and inflammatory stimuli by inhibiting the NF-κB and interferon pathways.
SAMHD1's restriction of dNTP supply enhances AID's mutagenicity and that the evolution of Ig hypermutation included the repurposing of antiviral mechanisms based on dNTP starvation.
Title: SAMHD1 enhances immunoglobulin hypermutation by promoting transversion mutation.
SAMHD1 crystal structure delineates the SAMHD1 allosteric activation process that governs SAMHD1 enzymatic activities.
Title: The SAM domain of mouse SAMHD1 is critical for its activation and regulation.
provide genetic evidence that cell-autonomous control of lentivirus infection in myeloid cells by SAMHD1 limits virus-induced production of interferons and the induction of co-stimulatory markers
Title: Restriction by SAMHD1 Limits cGAS/STING-Dependent Innate and Adaptive Immune Responses to HIV-1.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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

EC 3.1.5.-

NP_001357539.1

EC 3.1.5.-

NP_061339.4

EC 3.1.5.-

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)

NM_001139520.2 → NP_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:42 → 111

SAM_HD; SAM domain of HD-phosphohydrolase

COG1078
Location:116 → 495

YdhJ; HD superfamily phosphohydrolase [General function prediction only]
NM_001370610.1 → NP_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:42 → 111

SAM_HD; SAM domain of HD-phosphohydrolase

COG1078
Location:116 → 219

YdhJ; HD superfamily phosphohydrolase [General function prediction only]
NM_018851.4 → NP_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:42 → 111

SAM_HD; SAM domain of HD-phosphohydrolase

COG1078
Location:116 → 573

YdhJ; HD superfamily phosphohydrolase [General function prediction only]