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
  • 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
  • DNTPase 3 4
  • HSAMHD1 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 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 Cytokine Signaling in 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).

Gene Wiki entry for SAMHD1 Gene

Additional gene information for SAMHD1 Gene

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 for SAMHD1 Gene

Promoters and enhancers for SAMHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J036946 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 758.6 +2.2 2179 6.6 SMARCE1 RBPJ POLR2A TCF7L2 CREB1 MIXL1 MYC L3MBTL2 MAX ZNF121 SAMHD1 RBL1 MANBAL lnc-RBL1-3
GH20J036953 Promoter/Enhancer 1.1 Ensembl ENCODE 750.6 -1.5 -1479 0.4 RBPJ NR2F1 NR2F6 CREB1 MIXL1 HLF ZNF644 ZNF24 HMG20B CEBPA SAMHD1 piR-43105-378
GH20J037378 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -429.1 -429056 5.5 SIN3A ZNF24 MLX SMARCE1 NR2F6 ZNF362 RUNX1 MIXL1 ELF1 L3MBTL2 SRC RPN2 MYL9 TGIF2 TLDC2 SAMHD1 RPRD1B MANBAL CTNNBL1 lnc-SRC-1
GH20J036459 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +485.1 485138 13.6 ZBTB40 LCORL ZBTB6 MLX RBPJ SMARCE1 POLR2A USF2 NR2F1 NR2F6 DLGAP4 RBM12 RBM39 MYL9 AAR2 RBL1 RPL36P4 SAMHD1 TGIF2 CPNE1
GH20J036048 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 10.2 +902.0 901992 5 ZNF24 SP1 ZBTB40 SIX5 LCORL RBPJ SMARCE1 POLR2A CTBP1 USF2 ENSG00000234139 NORAD piR-39126-001 MYL9 AAR2 CPNE1 PROCR DSN1 SOGA1 CNBD2
- 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 UCSC Golden Path with GeneCards custom track

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
chr20:36,889,773-36,951,901
(GRCh38/hg38)
Size:
62,129 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:
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; 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};

    Three dimensional structures from OCA and Proteopedia for SAMHD1 Gene

    Alternative splice isoforms for SAMHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SAMHD1

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

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

Q9Y3Z3

UniProtKB/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.
genes like me logo Genes that share domains with SAMHD1: view

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 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).
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma. Up-regulated in TNF treated lung fibroblasts.

Enzyme Numbers (IUBMB) for SAMHD1 Gene

Phenotypes From GWAS Catalog 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:0003697 single-stranded DNA binding IDA 29670289
GO:0003723 RNA binding IDA 22461318
GO:0003824 catalytic activity IEA --
GO:0004540 NOT ribonuclease activity IDA 29670289
genes like me logo Genes that share ontologies with SAMHD1: view
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

CRISPR Products

Clone Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMHD1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAMHD1 Gene

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
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: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 --
genes like me logo Genes that share ontologies with SAMHD1: view

Drugs & Compounds for SAMHD1 Gene

(1) Drugs for SAMHD1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Stavudine Approved, Investigational Pharma 172
genes like me logo Genes that share compounds with SAMHD1: view

Transcripts for SAMHD1 Gene

mRNA/cDNA for SAMHD1 Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SAMHD1 Gene



Protein tissue co-expression partners for SAMHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAMHD1 Gene:

SAMHD1

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 (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(4.6)
  • Heart(3.7)
  • Spleen(3.4)
  • Lung(3.3)
  • Muscle(3.3)
  • Intestine(3.1)
  • Kidney(3)
  • Lymph node(2.7)
  • Pancreas(2.7)
  • Skin(2.7)
  • Adrenal gland(2.6)
  • Eye(2.5)
  • Stomach(2.4)
  • Gall bladder(2.2)
  • Thyroid gland(2.2)
  • Urine(2.2)
  • Bone marrow(2.1)
  • Bone(2)

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
genes like me logo Genes that share expression patterns with SAMHD1: view

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 33 32
  • 95.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SAMHD1 33 32
  • 85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SAMHD1 33 32
  • 84.08 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 82 (a)
OneToMany
-- 33
  • 65 (a)
OneToMany
-- 33
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Samhd1 32
  • 77.18 (n)
mouse
(Mus musculus)
Mammalia Samhd1 17 33 32
  • 77.16 (n)
oppossum
(Monodelphis domestica)
Mammalia SAMHD1 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMHD1 33 32
  • 66.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMHD1 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498574 32
  • 64.27 (n)
zebrafish
(Danio rerio)
Actinopterygii samhd1 33 32
  • 64.69 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fal 33
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK177.8a 34
  • 33 (a)
ZK177.8b 34
  • 33 (a)
ZK177.8 33
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40290 32
  • 48.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 55 (a)
OneToMany
-- 33
  • 30 (a)
OneToMany
Species where no ortholog for SAMHD1 was found in the sources mined by GeneCards:
  • 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)
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 from dbSNP and Humsavar for SAMHD1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs114791229 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,892,644(-) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs115645414 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,892,887(-) G/A/C 3_prime_UTR_variant
rs116489517 likely-benign, Chilblain Lupus, Aicardi Goutieres syndrome 36,891,924(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs121434516 pathogenic, Aicardi Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] 36,930,760(-) C/T coding_sequence_variant, missense_variant
rs121434517 pathogenic, Aicardi Goutieres syndrome 5 36,935,105(-) G/A coding_sequence_variant, stop_gained

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

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

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)

Additional Variant Information for SAMHD1 Gene

Human Gene Mutation Database (HGMD)
SAMHD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMHD1

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

Disorders for SAMHD1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for SAMHD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome 5
  • aicardi-goutieres syndrome 1
chilblain lupus 2
  • chbl2
familial chilblain lupus
aicardi-goutieres syndrome
  • aicardi-goutieres syndrome 1
type 1 interferonopathy
- 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, 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 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.

Additional Disease Information for 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 DC … Webb M (Nature 2011) 2 3 4 56
  2. 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 56
  3. 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 56
  4. SAMHD1 acts at stalled replication forks to prevent interferon induction. (PMID: 29670289) Coquel F … Pasero P (Nature 2018) 3 4 56
  5. 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 56

Products for SAMHD1 Gene

Sources for SAMHD1 Gene