Free for academic non-profit institutions. Other users need a Commercial license
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] See more...
Aliases for SAMHD1 Gene
Aliases for SAMHD1 Gene
- SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1 2 3 5
- Monocyte Protein 5 2 3 4
- MOP-5 2 3 4
- Deoxynucleoside Triphosphate Triphosphohydrolase SAMHD1 3 4
- SAM Domain And HD Domain-Containing Protein 1 3 4
- Dendritic Cell-Derived IFNG-Induced Protein 3 4
- SAM Domain And HD Domain 1 2 3
- HSAMHD1 3 4
- DNTPase 3 4
- SBBI88 2 3
External Ids for SAMHD1 Gene
- HGNC: 15925
- Entrez Gene: 25939
- Ensembl: ENSG00000101347
- OMIM: 606754
- UniProtKB: Q9Y3Z3
Previous GeneCards Identifiers for SAMHD1 Gene
- GC20M035247
- GC20M036157
- GC20M036206
- GC20M034954
- GC20M035518
- GC20M032255
Summaries 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 And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1) is a Protein Coding gene. Diseases associated with SAMHD1 include Aicardi-Goutieres Syndrome 5 and Chilblain Lupus 2. Among its related pathways are Interferon gamma signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and dGTPase activity.
UniProtKB/Swiss-Prot Summary for SAMHD1 Gene
-
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:22056990, PubMed:24336198, PubMed:26294762, PubMed:26431200, PubMed:28229507, PubMed:28834754, PubMed:29670289). Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:23364794, PubMed:25038827, PubMed:26101257, PubMed:22056990, PubMed:24336198, PubMed:28229507, PubMed:26294762, PubMed:26431200). Likewise, suppresses LINE-1 retrotransposon activity (PubMed:24035396, PubMed:29610582, PubMed:24217394). Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx (PubMed:21613998, PubMed:21720370). In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools (PubMed:23858451). Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks (PubMed:23602554, PubMed:23601106, PubMed:29610582, PubMed:29670289). Functions during S phase at stalled DNA replication forks to promote the resection of gapped or reversed forks: acts by stimulating the exonuclease activity of MRE11, activating the ATR-CHK1 pathway and allowing the forks to restart replication (PubMed:29670289). Its ability to promote degradation of nascent DNA at stalled replication forks is required to prevent induction of type I interferons, thereby preventing chronic inflammation (PubMed:27477283, PubMed:29670289). Ability to promote DNA end resection at stalled replication forks is independent of dNTPase activity (PubMed:29670289). Enhances immunoglobulin hypermutation in B-lymphocytes by promoting transversion mutation (By similarity).
Additional gene information for SAMHD1 Gene
- HGNC(15925)
- Entrez Gene(25939)
- Ensembl(ENSG00000101347)
- OMIM(606754)
- UniProtKB(Q9Y3Z3)
- Open Targets Platform(ENSG00000101347)
- Monarch Initiative
- Search for SAMHD1 at DataMed
- Search for SAMHD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAMHD1 Gene
Genomics for SAMHD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SAMHD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SAMHD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAMHD1
- Top Transcription factor binding sites by QIAGEN in the SAMHD1 gene promoter:
-
- HOXA9
- HOXA9B
- Meis-1
- Meis-1a
- POU2F1
- POU2F1a
- SEF-1 (1)
Genomic Locations for SAMHD1 Gene
Genomic Locations for SAMHD1 Gene
- chr20:36,889,773-36,951,843
- (GRCh38/hg38)
- Size:
- 62,071 bases
- Orientation:
- Minus strand
- chr20:35,518,632-35,580,246
- (GRCh37/hg19)
- 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:
-
- 20q11.23 by HGNC
- 20q11.23 by Entrez Gene
- 20q11.23 by Ensembl
SAMHD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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; in absence of GTP and dNTP (PubMed:24141705, PubMed:24217394, PubMed:28229507, PubMed:25760601). Homotetramer; in GTP- and dNTP-bound form (PubMed:23601106, PubMed:26101257, PubMed:24141705, PubMed:24217394, PubMed:28229507, PubMed:26294762, PubMed:26431200, PubMed:25288794, PubMed:25267621, PubMed:25760601). Interacts with MRE11; leading to stimulate the exonuclease activity of MRE11 (PubMed:28834754, PubMed:29670289). Interacts with RBBP8/CtIP (PubMed:28834754). Interacts (via its C-terminus) with CD81.
- (Microbial infection) Interacts with HIV-2 viral protein Vpx; promoting interaction with a E3 ubiquitin-protein ligase complex containing DCAF1, leading to subsequent ubiquitination and degradation of SAMHD1.
- SequenceCaution:
-
- Sequence=BAG65067.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 3]: Catalytically inactive.
- [Isoform 4]: Catalytically inactive.
Three dimensional structures from OCA and Proteopedia for SAMHD1 Gene
Protein Expression for SAMHD1 Gene
Post-translational modifications for SAMHD1 Gene
- Phosphorylation at Thr-592 by CDK1 acts as a switch to control deoxynucleoside triphosphate (dNTPase)-dependent and -independent functions (PubMed:29670289). Phosphorylation at Thr-592 takes place in cycling cells: it reduces the stability of the homotetramer, impairing the dNTPase activity and subsequent ability to restrict infection by viruses (PubMed:23602554, PubMed:23601106, PubMed:26294762, PubMed:26431200). It also inhibits ability to suppress LINE-1 retrotransposon activity (PubMed:29610582). In contrast, phosphorylation at Thr-592 promotes DNA end resection at stalled replication forks in response to DNA damage (PubMed:29670289).
- (Microbial infection) Ubiquitinated following interaction with HIV-2 viral protein Vpx; Vpx promotes interaction and with a DCX (DDB1-CUL4-X-box) E3 ubiquitin ligase, leading to proteasomal degradation.
-
Ubiquitination at Lys66, Lys99, Lys148, Lys294, Lys304, Lys312, Lys446, Lys455, Lys486, and Lys544
- NX_Q9Y3Z3 (NX_Q9Y3Z3-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SAMHD1 Gene
- ENSEMBL proteins:
-
- ENSP00000493536
- ENSP00000494520
- ENSP00000494823
- ENSP00000493810
- ENSP00000494979
- ENSP00000494313
- ENSP00000262878
- ENSP00000495667
- ENSP00000494436
- ENSP00000493928
- ENSP00000494354
- ENSP00000495432
- ENSP00000496075
- ENSP00000495448
- ENSP00000495381
- ENSP00000494271
- ENSP00000496474
- ENSP00000495737
- ENSP00000495645
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SAMHD1 Monoclonal Antibody (LS-B9640) and SAMHD1 Monoclonal Antibody (LS-B12390)
- G Biosciences Immunotag™ Phospho-SAMHD1 (Thr592) Antibody and Immunotag™ SAMHD1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SAMHD1
- Novus Biologicals Antibodies for SAMHD1
-
Abcam antibodies for SAMHD1
- Invitrogen Antibodies for SAMHD1 (AFLGC-SAMHD1)
-
Custom Antibody ServicesProSci Antibodies for SAMHD1
Protein Products
-
OriGene Purified Proteins for SAMHD1
- Search Origene for MassSpec and Protein Over-expression Lysates for SAMHD1
- Origene Custom Protein Services for SAMHD1
- antibodies-online: Show 4 available SAMHD1 Proteins ranked by validation data
- Compare Top SAMHD1 Proteins
-
Quality Products:
-
Abcam proteins for SAMHD1
Assay Products
- antibodies-online: Show 7 available SAMHD1 Elisa Kits ranked by validation data
- Compare Top SAMHD1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SAMHD1 Gene
Domains & Families for SAMHD1 Gene
Gene Families for SAMHD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SAMHD1 Gene
- InterPro:
- Blocks:
-
- Sterile alpha motif SAM
- Sterile alpha motif homology 2
- Metal-dependent phosphohydrolase, HD region
- ProtoNet:
Suggested Antigen Peptide Sequences for SAMHD1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ51783, highly similar to SAM domain and HD domain-containing protein 1 (A6NDZ3_HUMAN)
- Monocyte protein 5 (SAMH1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y3Z3UniProtKB/Swiss-Prot:
SAMH1_HUMAN :- In human, and in contrast to mouse protein, the SAM domain is not required for deoxynucleoside triphosphate (dNTPase) activity and ability to restrict infection by viruses.
- Belongs to the SAMHD1 family.
- Domain:
-
- In human, and in contrast to mouse protein, the SAM domain is not required for deoxynucleoside triphosphate (dNTPase) activity and ability to restrict infection by viruses.
- Family:
-
- Belongs to the SAMHD1 family.
Function for SAMHD1 Gene
Molecular function for SAMHD1 Gene
- UniProtKB/Swiss-Prot Function:
- Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:22056990, PubMed:24336198, PubMed:26294762, PubMed:26431200, PubMed:28229507, PubMed:28834754, PubMed:29670289). Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:23602554, PubMed:23601106, PubMed:23364794, PubMed:25038827, PubMed:26101257, PubMed:22056990, PubMed:24336198, PubMed:28229507, PubMed:26294762, PubMed:26431200). Likewise, suppresses LINE-1 retrotransposon activity (PubMed:24035396, PubMed:29610582, PubMed:24217394). Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx (PubMed:21613998, PubMed:21720370). In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools (PubMed:23858451). Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks (PubMed:23602554, PubMed:23601106, PubMed:29610582, PubMed:29670289). Functions during S phase at stalled DNA replication forks to promote the resection of gapped or reversed forks: acts by stimulating the exonuclease activity of MRE11, activating the ATR-CHK1 pathway and allowing the forks to restart replication (PubMed:29670289). Its ability to promote degradation of nascent DNA at stalled replication forks is required to prevent induction of type I interferons, thereby preventing chronic inflammation (PubMed:27477283, PubMed:29670289). Ability to promote DNA end resection at stalled replication forks is independent of dNTPase activity (PubMed:29670289). Enhances immunoglobulin hypermutation in B-lymphocytes by promoting transversion mutation (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + H2O = a 2'-deoxyribonucleoside + H(+) + triphosphate; Xref=Rhea:RHEA:46148, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18036, ChEBI:CHEBI:18274, ChEBI:CHEBI:61560; Evidence={ECO:0000269|PubMed:22056990, ECO:0000269|PubMed:23601106, ECO:0000269|PubMed:24217394, ECO:0000269|PubMed:26101257, ECO:0000269|PubMed:26294762, ECO:0000269|PubMed:26431200};.
- UniProtKB/Swiss-Prot Induction:
- By IFNG/IFN-gamma. Up-regulated in TNF treated lung fibroblasts.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Allosterically activated and regulated via the combined actions of GTP and dNTPs (dATP, dGTP, dTTP and dCTP): Allosteric site 1 binds GTP, while allosteric site 2 binds dNTP (PubMed:25288794, PubMed:25267621, PubMed:25760601). Allosteric activation promotes the formation of highly active homotetramers (PubMed:22056990, PubMed:24141705, PubMed:24217394, PubMed:25288794, PubMed:25267621, PubMed:25760601). Phosphorylation at Thr-592 impairs homotetramerization, thereby inhibiting dNTPase activity, leading to reduced ability to restrict infection by viruses (PubMed:23602554, PubMed:23601106, PubMed:26294762, PubMed:26431200, PubMed:29610582, PubMed:29670289).
Enzyme Numbers (IUBMB) for SAMHD1 Gene
Phenotypes From GWAS Catalog for SAMHD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003676 | nucleic acid binding | IDA | 22461318 |
| GO:0003697 | single-stranded DNA binding | IDA | 29670289 |
| GO:0003723 | RNA binding | IDA | 22461318 |
| GO:0003824 | catalytic activity | IEA | -- |
Phenotypes for SAMHD1 Gene
- MGI mutant phenotypes for SAMHD1:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for SAMHD1:
Animal Models for SAMHD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SAMHD1 - Select products 50% OFF >
- * SAMHD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SAMHD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SAMHD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SAMHD1
miRNA for SAMHD1 Gene
- miRTarBase miRNAs that target SAMHD1
-
- mmu-miR-541-5p (MIRT008203)
- hsa-miR-215-5p (MIRT024909)
- hsa-miR-192-5p (MIRT026868)
- hsa-miR-30a-5p (MIRT028643)
- hsa-miR-642a-5p (MIRT235669)
- mmu-miR-3473a (MIRT592884)
- mmu-miR-185-5p (MIRT592885)
- mmu-miR-882 (MIRT592886)
- mmu-miR-335-5p (MIRT593022)
- mmu-miR-1943-5p (MIRT597373)
- hsa-miR-6868-3p (MIRT649641)
- hsa-miR-3667-3p (MIRT649642)
- hsa-miR-6734-3p (MIRT649643)
- hsa-miR-4667-3p (MIRT649644)
- hsa-miR-1470 (MIRT649645)
- hsa-miR-6873-3p (MIRT664746)
- hsa-miR-627-3p (MIRT664747)
- hsa-miR-3124-3p (MIRT664748)
- hsa-miR-130b-5p (MIRT664749)
- hsa-miR-6817-3p (MIRT664750)
- hsa-miR-7110-3p (MIRT664751)
- hsa-miR-181a-5p (MIRT735198)
- hsa-miR-155-5p (MIRT735199)
- hsa-miR-1976 (MIRT763589)
- hsa-miR-3653-5p (MIRT766384)
- hsa-miR-4279 (MIRT768338)
- hsa-miR-4722-3p (MIRT771504)
- hsa-miR-4740-3p (MIRT771869)
- hsa-miR-498 (MIRT772858)
- hsa-miR-6727-3p (MIRT777906)
- hsa-miR-6747-3p (MIRT778292)
- hsa-miR-6778-3p (MIRT778826)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SAMHD1
- Browse OriGene Inhibitory RNA Products For SAMHD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMHD1
Clone Products
- Applied Biological Materials (abm): Clones for SAMHD1 - Select products 50% OFF >
- * SAMHD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SAMHD1
- Addgene plasmids for SAMHD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SAMHD1
No data available for Transcription Factor Targets and HOMER Transcription for SAMHD1 Gene
Localization for SAMHD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SAMHD1 Gene
- Nucleus. Chromosome. Note=Localizes to sites of DNA double-strand breaks in response to DNA damage. {ECO:0000269 PubMed:28834754}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| extracellular | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
- Nucleoplasm (3)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,IDA | 19525956 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0035861 | site of double-strand break | IDA | 28834754 |
Pathways & Interactions for SAMHD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Human cytomegalovirus infection | ||
| 2 | Cytokine Signaling in Immune system | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Immune response IFN alpha/beta signaling pathway | ||
| 5 | Interferon gamma signaling | ||
Pathways by source for SAMHD1 Gene
4 Reactome pathways for SAMHD1 Gene
1 KEGG pathway for SAMHD1 Gene
Interacting Proteins for SAMHD1 Gene
Selected Interacting proteins:
Q9Y3Z3-SAMH1_HUMAN
ENSP00000262878
for SAMHD1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SAMHD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000724 | double-strand break repair via homologous recombination | IDA | 28834754 |
| GO:0002376 | immune system process | IEA | -- |
| GO:0006203 | dGTP catabolic process | IBA,IDA | 24217394 |
| GO:0006260 | DNA replication | IEA | -- |
| GO:0006281 | DNA repair | IEA | -- |
Drugs & Compounds for SAMHD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Stavudine | Approved, Investigational | Pharma | 172 |
Transcripts for SAMHD1 Gene
mRNA/cDNA for SAMHD1 Gene
- 3 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262878 4334 nts (view in UCSC)
- ENST00000465985 513 nts (view in UCSC)
- ENST00000642186 3312 nts (view in UCSC)
- ENST00000642246 4508 nts (view in UCSC)
- ENST00000642616 1424 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SAMHD1 - Select products 50% OFF >
- * SAMHD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SAMHD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SAMHD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SAMHD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SAMHD1
- Browse OriGene Inhibitory RNA Products For SAMHD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMHD1
Clone Products
- Applied Biological Materials (abm): Clones for SAMHD1 - Select products 50% OFF >
- * SAMHD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SAMHD1
- Addgene plasmids for SAMHD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SAMHD1
| 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
Expression 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, MaxQB, and MOPED for SAMHD1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAMHD1
SOURCE GeneReport for Unigene cluster for SAMHD1 Gene:
Hs.580681mRNA 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 (PubMed:11064105). No expression is seen in brain and thymus (PubMed:11064105).
Evidence on tissue expression from TISSUES for SAMHD1 Gene
- Nervous system(4.8)
- Blood(4.7)
- Liver(4.7)
- Spleen(3.7)
- Heart(3.7)
- Muscle(3.4)
- Lung(3.3)
- Intestine(3.3)
- Kidney(3.3)
- Skin(3.3)
- Lymph node(3.3)
- Pancreas(3.1)
- Adrenal gland(2.9)
- Bone marrow(2.8)
- Eye(2.8)
- Stomach(2.7)
- Gall bladder(2.5)
- Bone(2.4)
- Thyroid gland(2.4)
- Urine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMHD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- meninges
- mouth
- neck
- nose
- outer ear
- skull
Thorax:
- chest wall
Abdomen:
- abdominal wall
- liver
- spleen
- stomach
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SAMHD1
-
OriGene qPCR primer pairs and template standards for SAMHD1
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SAMHD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SAMHD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SAMHD1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Samhd1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Samhd1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SAMHD1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SAMHD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SAMHD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498574 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | samhd1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | fal 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | ZK177.8a 32 |
|
|
|
| ZK177.8b 32 |
|
|
|||
| ZK177.8 31 |
|
OneToOne | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G40290 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany |
- Species where no ortholog for SAMHD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SAMHD1: view image
Paralogs for SAMHD1 Gene
No data available for Paralogs for SAMHD1 Gene
Variants for SAMHD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAMHD1 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636683 | Uncertain Significance: not provided | 36,916,742(-) | G/A | MISSENSE_VARIANT | |
| 636815 | Uncertain Significance: not provided | 36,892,945(-) | T/C | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 639026 | Pathogenic: Aicardi Goutieres syndrome 5 | 36,935,042(-) | C/CAA | FRAMESHIFT_VARIANT | |
| 639210 | Pathogenic: Aicardi Goutieres syndrome 5 | 36,919,516(-) | C/A | NONSENSE | |
| 639600 | Uncertain Significance: Aicardi Goutieres syndrome 5 | 36,919,385(-) | T/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7563n54 | CNV | loss | 21841781 |
| dgv7564n54 | CNV | loss | 21841781 |
| esv2668593 | CNV | deletion | 23128226 |
| esv2677733 | CNV | deletion | 23128226 |
| esv27677 | CNV | loss | 19812545 |
| esv3557041 | CNV | deletion | 23714750 |
| esv3645746 | CNV | loss | 21293372 |
| esv3645747 | CNV | loss | 21293372 |
| nsv1057845 | CNV | gain | 25217958 |
| nsv1138956 | CNV | deletion | 24896259 |
| nsv478352 | CNV | novel sequence insertion | 20440878 |
| nsv585944 | CNV | loss | 21841781 |
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)
Additional Variant Information for SAMHD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMHD1 Gene
Disorders for SAMHD1 Gene
(27) MalaCards diseases for SAMHD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| aicardi-goutieres syndrome 5 |
|
|
| chilblain lupus 2 |
|
|
| aicardi-goutieres syndrome |
|
|
| familial chilblain lupus |
|
|
| type 1 interferonopathy |
|
|
Search SAMHD1 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:24035396, ECO:0000269 PubMed:24183309, ECO:0000269 PubMed:28229507, ECO:0000269 PubMed:29670289}. 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. {ECO:0000269 PubMed:21204240}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SAMHD1
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SAMHD1 Gene
Publications for SAMHD1 Gene
- HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. (PMID: 22056990) Goldstone DC … Webb M (Nature 2011) 2 3 4
- Toward 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 research 2001) 2 3 4
- Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells. (PMID: 11064105) Li N … Cao X (Immunology letters 2000) 2 3 4
- SAMHD1 acts at stalled replication forks to prevent interferon induction. (PMID: 29670289) Coquel F … Pasero P (Nature 2018) 3 4
- CD81 association with SAMHD1 enhances HIV-1 reverse transcription by increasing dNTP levels. (PMID: 28871089) Rocha-Perugini V … Yáñez-Mó M (Nature microbiology 2017) 3 4
ExternalLinks
Products for SAMHD1 Gene
- Custom Antibody ServicesOriGene Antibodies for SAMHD1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SAMHD1
- Search Origene for MassSpec and Protein Over-expression Lysates for SAMHD1
- Origene Custom Protein Services for SAMHD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SAMHD1
- Browse OriGene Inhibitory RNA Products For SAMHD1
- OriGene qPCR primer pairs for SAMHD1
- OriGene qPCR primer pairs and template standards for SAMHD1
- OriGene CRISPR knockouts for SAMHD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SAMHD1
- Sino Biological Human cDNA Clone for SAMHD1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SAMHD1
- Novus Biologicals proteins and lysates for SAMHD1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SAMHD1
- Abcam proteins for SAMHD1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SAMHD1 (AFLGC-SAMHD1)
- VectorBuilder Custom and pre-made DNA vectors for SAMHD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SAMHD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SAMHD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SAMHD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SAMHD1
- Addgene plasmids for SAMHD1
- antibodies-online: Show 38 available SAMHD1 Antibodies ranked by validation data
- Compare Top SAMHD1 Antibodies
- antibodies-online: Show 7 available SAMHD1 Elisa Kits ranked by validation data
- Compare Top SAMHD1 Elisa Kits
- Quality Products:
- antibodies-online: Show 4 available SAMHD1 Proteins ranked by validation data
- Compare Top SAMHD1 Proteins
- Quality Products:
- Horizon Cell Lines for SAMHD1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SAMHD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SAMHD1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SAMHD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMHD1
Sources for SAMHD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB