Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SAMHD1 Gene

Aliases for SAMHD1 Gene

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

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. Among its related pathways are Immune System and Interferon gamma signaling. GO annotations related to this gene include nucleic acid binding and dGTPase 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

Promoters for SAMHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SAMHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SAMHD1 Gene

Chromosome:
20
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

Genes around SAMHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Lys 66, Lys 99, Lys 148, Lys 294, Lys 304, Lys 312, Lys 446, Lys 455, Lys 486, and Lys 544
  • 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 & Families for SAMHD1 Gene

Gene Families for SAMHD1 Gene

Suggested Antigen Peptide Sequences for SAMHD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y3Z3

UniProtKB/Swiss-Prot:

SAMH1_HUMAN :
  • Contains 1 HD domain.
  • Belongs to the SAMHD1 family.
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

genes like me logo Genes that share phenotypes with SAMHD1: view

Human Phenotype Ontology for SAMHD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SAMHD1 Gene

MGI Knock Outs for SAMHD1:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
cytosol 3
chloroplast 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SAMHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SAMHD1: view

Pathways & Interactions for SAMHD1 Gene

genes like me logo Genes that share pathways with SAMHD1: view

Pathways by source for SAMHD1 Gene

SIGNOR curated interactions for SAMHD1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SAMHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 11064105
GO:0046061 dATP catabolic process IDA 24141705
GO:0051289 protein homotetramerization IDA 24217394
genes like me logo Genes that share ontologies with SAMHD1: view

Drugs & Compounds for SAMHD1 Gene

No Compound Related Data Available

Transcripts for SAMHD1 Gene

mRNA/cDNA for SAMHD1 Gene

Unigene Clusters for SAMHD1 Gene

SAM domain and HD domain 1:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for SAMHD1 Gene

This gene is overexpressed in Lymph node (16.0) and Monocytes (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SAMHD1: view

Protein tissue co-expression partners for SAMHD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 36
  • 99 (a)
OneToOne
SAMHD1 35
  • 95.75 (n)
  • 95.17 (a)
cow
(Bos Taurus)
Mammalia SAMHD1 35
  • 85 (n)
  • 78.56 (a)
SAMHD1 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMHD1 36
  • 78 (a)
OneToOne
SAMHD1 35
  • 84.08 (n)
  • 77.8 (a)
mouse
(Mus musculus)
Mammalia Samhd1 16
Samhd1 35
  • 77.16 (n)
  • 74.55 (a)
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 36
  • 59 (a)
OneToOne
samhd1 35
  • 64.69 (n)
  • 66.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta fal 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK177.8a 37
  • 33 (a)
ZK177.8b 37
  • 33 (a)
ZK177.8 36
  • 27 (a)
OneToOne
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
VAR_058481 Aicardi-Goutieres syndrome 5 (AGS5)
VAR_058482 Aicardi-Goutieres syndrome 5 (AGS5)
VAR_058483 Aicardi-Goutieres syndrome 5 (AGS5)
VAR_058484 Aicardi-Goutieres syndrome 5 (AGS5)
VAR_058485 Aicardi-Goutieres syndrome 5 (AGS5)

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

Variation tolerance for SAMHD1 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.33% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(11) MalaCards diseases for SAMHD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome 5
  • cree encephalitis
chilblain lupus 2
  • chbl2
aicardi-goutieres syndrome
  • cree encephalitis
aicardi-goutieres syndrome 1, dominant and recessive
  • aicardi-goutieres syndrome type 1
chilblain lupus
  • chilblain lupus 1
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SAMHD1

Human Genome Epidemiology (HuGE) Navigator
SAMHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAMHD1
genes like me logo Genes that share disorders with SAMHD1: view

No data available for Genatlas for SAMHD1 Gene

Publications for SAMHD1 Gene

  1. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. (PMID: 22056990) Goldstone D.C. … Webb M. (Nature 2011) 2 3 4 67
  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
  3. 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. SAMHD1 degradation enhances active suppression of dendritic cell maturation by HIV-1. (PMID: 25825449) Hertoghs N. … Geijtenbeek T.B. (J. Immunol. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for SAMHD1 Gene

Sources for SAMHD1 Gene

Back to Top

Content