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Aliases for SAMHD1 Gene

Aliases for SAMHD1 Gene

  • SAM Domain And HD Domain 1 2 3
  • Monocyte Protein 5 2 3 4
  • DCIP 3 4 6
  • SAM Domain And HD Domain-Containing Protein 1 3 4
  • Dendritic Cell-Derived IFNG-Induced Protein 3 4
  • DNTPase 3 4
  • CHBL2 3 6
  • MOP-5 3 4
  • Deoxynucleoside Triphosphate Triphosphohydrolase SAMHD1 3
  • Aicardi-Goutieres Syndrome 5 2
  • HD Domain Containing 1 2
  • EC 3.1.5.- 4
  • SBBI88 3
  • HDDC1 3
  • MOP5 4
  • AGS5 6

External Ids for SAMHD1 Gene

Previous GeneCards Identifiers for SAMHD1 Gene

  • GC20M035247
  • GC20M036157
  • GC20M036206
  • GC20M034954
  • GC20M035518
  • GC20M032255

Summaries for SAMHD1 Gene

Entrez Gene Summary for SAMHD1 Gene

  • 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]

GeneCards Summary for SAMHD1 Gene

SAMHD1 (SAM Domain And HD Domain 1) is a Protein Coding gene. Diseases associated with SAMHD1 include aicardi-goutieres syndrome 5 and chilblain lupus 2. GO annotations related to this gene include RNA binding and phosphoric diester hydrolase activity.

UniProtKB/Swiss-Prot for SAMHD1 Gene

  • Host restriction nuclease that blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May function by reducing the cellular dNTP levels to levels too low for retroviral reverse transcription to occur. May play a role in mediating proinflammatory responses to TNF-alpha signaling.

Gene Wiki entry for SAMHD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMHD1 Gene

Genomics for SAMHD1 Gene

Regulatory Elements for SAMHD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SAMHD1 Gene

Start:
36,890,229 bp from pter
End:
36,951,843 bp from pter
Size:
61,615 bases
Orientation:
Minus strand

Genomic View for SAMHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SAMHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMHD1 Gene

Proteins for SAMHD1 Gene

  • Protein details for SAMHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3Z3-SAMH1_HUMAN
    Recommended name:
    Deoxynucleoside triphosphate triphosphohydrolase SAMHD1
    Protein Accession:
    Q9Y3Z3
    Secondary Accessions:
    • B4E2A5
    • E1P5V2
    • Q5JXG8
    • Q8N491
    • Q9H004
    • Q9H005
    • Q9H3U9

    Protein attributes for SAMHD1 Gene

    Size:
    626 amino acids
    Molecular mass:
    72201 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homodimer. Homotetramer; in dGTP-bound form. After HIV infection, interacts (via C-terminus) with a ubiquitin-protein ligase complex containing VPRBP and the viral accessory protein Vpx.

    Three dimensional structures from OCA and Proteopedia for SAMHD1 Gene

    Alternative splice isoforms for SAMHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAMHD1 Gene

Proteomics data for SAMHD1 Gene at MOPED

Post-translational modifications for SAMHD1 Gene

  • Ubiquitinated and targeted for proteasomal degradation by a DCX (DDB1-CUL4-X-box) E3 ubiquitin ligase with the help of the viral accessory protein Vpx.
  • Ubiquitination at Lys66, Lys99, Lys148, Lys294, Lys304, Lys312, Lys446, Lys455, Lys486, and Lys544
  • Modification sites at PhosphoSitePlus

Other Protein References for SAMHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SAMHD1 (SAMHD1)

No data available for DME Specific Peptides for SAMHD1 Gene

Domains for SAMHD1 Gene

Gene Families for SAMHD1 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Suggested Antigen Peptide Sequences for SAMHD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y3Z3

UniProtKB/Swiss-Prot:

SAMH1_HUMAN :
  • Q9Y3Z3
Domain:
  • Contains 1 HD domain.
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the SAMHD1 family.
genes like me logo Genes that share domains with SAMHD1: view

Function for SAMHD1 Gene

Molecular function for SAMHD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: dNTP + H(2)O = Deoxynucleoside + triphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: Allosterically stimulated by dGTP which binds in a cleft at the interface of the homodimer and promotes the formation of highly active homotetramers. Each allosteric site binds two molecules of dGTP (dGTP1 and dGTP 2) between adjoining subunits. Not activated by dATP, dCTP and dTTP.
UniProtKB/Swiss-Prot Function: Host restriction nuclease that blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May function by reducing the cellular dNTP levels to levels too low for retroviral reverse transcription to occur. May play a role in mediating proinflammatory responses to TNF-alpha signaling.
UniProtKB/Swiss-Prot Induction: By IFNG/IFN-gamma. Up-regulated in TNF treated lung fibroblasts.

Enzyme Numbers (IUBMB) for SAMHD1 Gene

Gene Ontology (GO) - Molecular Function for SAMHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IDA 22461318
GO:0003723 RNA binding IDA 22461318
GO:0005515 protein binding IPI 21903422
GO:0008270 zinc ion binding IDA 24217394
GO:0008832 dGTPase activity IDA 24217394
genes like me logo Genes that share ontologies with SAMHD1: view
genes like me logo Genes that share phenotypes with SAMHD1: view

Animal Models for SAMHD1 Gene

MGI Knock Outs for SAMHD1:

Animal Model Products

CRISPR Products

miRNA for SAMHD1 Gene

miRTarBase miRNAs that target SAMHD1

No data available for Transcription Factor Targeting and HOMER Transcription for SAMHD1 Gene

Localization for SAMHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMHD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAMHD1 Gene COMPARTMENTS Subcellular localization image for SAMHD1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
chloroplast 2
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for SAMHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 11064105
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with SAMHD1: view

Pathways for SAMHD1 Gene

SuperPathways for SAMHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAMHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006203 dGTP catabolic process IDA 24217394
GO:0006955 immune response NAS 11064105
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0045087 innate immune response --
GO:0045088 regulation of innate immune response IMP 19525956
genes like me logo Genes that share ontologies with SAMHD1: view

No data available for Pathways by source for SAMHD1 Gene

Transcripts for SAMHD1 Gene

mRNA/cDNA for SAMHD1 Gene

Unigene Clusters for SAMHD1 Gene

SAM domain and HD domain 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SAMHD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMHD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for SAMHD1 Gene

GeneLoc Exon Structure for
SAMHD1
ECgene alternative splicing isoforms for
SAMHD1

Expression for SAMHD1 Gene

mRNA expression in normal human tissues for SAMHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SAMHD1 Gene

SOURCE GeneReport for Unigene cluster for SAMHD1 Gene Hs.580681

mRNA Expression by UniProt/SwissProt for SAMHD1 Gene

Q9Y3Z3-SAMH1_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes. No expression is seen in brain and thymus.
genes like me logo Genes that share expressions with SAMHD1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SAMHD1 Gene

Orthologs for SAMHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAMHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMHD1 35
  • 95.75 (n)
  • 95.17 (a)
SAMHD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SAMHD1 35
  • 85 (n)
  • 78.56 (a)
SAMHD1 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMHD1 35
  • 84.08 (n)
  • 77.8 (a)
SAMHD1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Samhd1 35
  • 77.16 (n)
  • 74.55 (a)
Samhd1 16
Samhd1 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMHD1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Samhd1 35
  • 77.18 (n)
  • 74.51 (a)
chicken
(Gallus gallus)
Aves SAMHD1 35
  • 66.72 (n)
  • 62.96 (a)
SAMHD1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMHD1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498574 35
  • 64.27 (n)
  • 63.56 (a)
zebrafish
(Danio rerio)
Actinopterygii samhd1 35
  • 64.69 (n)
  • 66.01 (a)
samhd1 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fal 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK177.8 36
  • 27 (a)
OneToOne
ZK177.8a 37
  • 33 (a)
ZK177.8b 37
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40290 35
  • 48.49 (n)
  • 40.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
-- 36
  • 30 (a)
OneToMany
Species with no ortholog for SAMHD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAMHD1 Gene

ENSEMBL:
Gene Tree for SAMHD1 (if available)
TreeFam:
Gene Tree for SAMHD1 (if available)

Paralogs for SAMHD1 Gene

No data available for Paralogs for SAMHD1 Gene

Variants for SAMHD1 Gene

Sequence variations from dbSNP and Humsavar for SAMHD1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs1291142 -- 36,896,959(+) CTGCC(A/G)AATAT intron-variant
rs1291143 -- 36,897,237(+) CCTGC(A/C)TGCCA intron-variant
rs1291144 -- 36,899,487(+) TTGAA(A/G)TTCAA intron-variant
rs1291145 -- 36,900,072(+) ctggg(C/T)gacac intron-variant
rs1291146 -- 36,900,598(+) ggagt(C/T)tctgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAMHD1 Gene

Variant ID Type Subtype PubMed ID
esv2677733 CNV Deletion 23128226
esv27677 CNV Loss 19812545
esv2668593 CNV Deletion 23128226
nsv912866 CNV Loss 21882294

Relevant External Links for SAMHD1 Gene

HapMap Linkage Disequilibrium report
SAMHD1
Human Gene Mutation Database (HGMD)
SAMHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMHD1 Gene

Disorders for SAMHD1 Gene

(2) OMIM Diseases for SAMHD1 Gene (606754)

UniProtKB/Swiss-Prot

SAMH1_HUMAN
  • Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269 PubMed:19525956, ECO:0000269 PubMed:20131292, ECO:0000269 PubMed:20842748}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Chilblain lupus 2 (CHBL2) [MIM:614415]: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade. {ECO:0000269 PubMed:21204240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SAMHD1 Gene

Relevant External Links for SAMHD1

Human Genome Epidemiology (HuGE) Navigator
SAMHD1
genes like me logo Genes that share disorders with SAMHD1: view

Publications for SAMHD1 Gene

  1. Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells. (PMID: 11064105) Li N. … Cao X. (Immunol. Lett. 2000) 2 3 4
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. Cerebral arterial stenoses and stroke: novel features of Aicardi- Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. (PMID: 20842748) Thiele H. … Rutsch F. (Hum. Mutat. 2010) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for SAMHD1 Gene

Sources for SAMHD1 Gene

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