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

Gene ID: 25939, updated on 12-May-2019

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

Genomic context

See SAMHD1 in Genome Data Viewer
Location:
20q11.23
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (36890882..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 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 ribosomal protein S3A pseudogene 3 Neighboring gene ribosomal protein S27a 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 FunctionsWhat'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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
dGTP binding IDA
Inferred from Direct Assay
more info
PubMed 
dGTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dGTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nucleic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT ribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
triphosphoric monoester hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA strand resection involved in replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
RNA phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
dATP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
dGTP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dGTP catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
defense response to virus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
deoxyribonucleotide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
deoxyribonucleotide catabolic process TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of type I interferon-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
regulation of innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
somatic hypermutation of immunoglobulin genes ISS
Inferred from Sequence or Structural Similarity
more info
 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
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_056289.2
XP_005260441.1
XP_011527063.1

NCBI Reference Sequences (RefSeq)

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_001363729.1NP_001350658.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB208944, AK027811, AK311150, AL079335, CA306490
    Consensus CDS
    CCDS86953.1
    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_001363733.1NP_001350662.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK027811, AL079335, BE937520, BP252994, R26128
    Consensus CDS
    CCDS86954.1
    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_015474.3NP_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, DA351335
    Consensus CDS
    CCDS13288.1
    UniProtKB/Swiss-Prot
    Q9Y3Z3
    UniProtKB/TrEMBL
    Q59H15
    Related
    ENSP00000493536.1, ENST00000646673.1
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    36890882..36951843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260384.4XP_005260441.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y3Z3
    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. XM_011528761.3XP_011527063.1  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform X2

    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]
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