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

Gene ID: 25939, updated on 6-Oct-2024

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; AllianceGenome:HGNC:15925
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
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Genomic context

See SAMHD1 in Genome Data Viewer
Location:
20q11.23
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36889773..36951708, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38614121..38676051, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr20:35410629-35411130 Neighboring gene microtubule crosslinking factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35478413-35478912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35483021-35483521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35484024-35484524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35485529-35486030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35486031-35486531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35500385-35500891 Neighboring gene RNA, 7SL, cytoplasmic 156, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35515591-35516313 Neighboring gene TBC/LysM-associated domain containing 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:35575178-35576013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12883 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:35604082-35604653 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35604654-35605224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35618031-35618532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35618533-35619032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35628373-35629300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35640175-35641116 Neighboring gene RB transcriptional corepressor like 1 Neighboring gene RPS3A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17826 Neighboring gene RPS27A pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

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 
NOT enables RNA nuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA nuclease activity 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
 
enables dGTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables deoxynucleoside triphosphate hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
enables single-stranded DNA binding 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 damage response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA strand resection involved in replication fork processing 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
 
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
 
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
 
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
 
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
    UniProtKB/TrEMBL
    A0A2R8YCS7
    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
    B4E2A5, E1P5V2, Q5JXG8, Q8N491, Q9H004, Q9H005, Q9H3U9, Q9Y3Z3
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38614121..38676051 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)