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SAMHD1 Gene

protein-coding   GIFtS: 59
GCID: GC20M035518

SAM Domain And HD Domain 1

  See SAMHD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SAM Domain And HD Domain 11 2     Aicardi-Goutieres Syndrome 51
Monocyte Protein 51 2 3     HD Domain Containing 11
DCIP2 3 5     HDDC12
Dendritic Cell-Derived IFNG-Induced Protein2 3     SBBI882
MOP-52 3     Deoxynucleoside Triphosphate Triphosphohydrolase SAMHD12
dNTPase2 3     EC 3.1.5.-3
SAM Domain And HD Domain-Containing Protein 12 3     MOP53
CHBL22 5     AGS55

External Ids:    HGNC: 159251   Entrez Gene: 259392   Ensembl: ENSG000001013477   OMIM: 6067545   UniProtKB: Q9Y3Z33   

Export aliases for SAMHD1 gene to outside databases

Previous GC identifers: GC20M035247 GC20M036157 GC20M036206 GC20M034954 GC20M032255


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 chilblain lupus 2, and aicardi-goutieres syndrome type 5. GO annotations related to this gene include RNA binding and phosphoric diester hydrolase activity.

UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
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

Gene Wiki entry for SAMHD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SAMHD1 gene promoter:
         HOXA9B   HOXA9   POU2F1   POU2F1a   SEF-1 (1)   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAMHD1 promoter sequence
   Search Chromatin IP Primers for SAMHD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SAMHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20pter-q12   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

SAMHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAMHD1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M035518:  view genomic region     (about GC identifiers)

Start:
35,518,632 bp from pter      End:
35,580,246 bp from pter
Size:
61,615 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3 (See protein sequence)
Recommended Name: Deoxynucleoside triphosphate triphosphohydrolase SAMHD1  
Size: 626 amino acids; 72201 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: 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
6 PDB 3D structures from and Proteopedia for SAMHD1:
2E8O (3D)        3U1N (3D)        4BZB (3D)        4BZC (3D)        4CC9 (3D)        4MZ7 (3D)    
Secondary accessions: B4E2A5 E1P5V2 Q5JXG8 Q8N491 Q9H004 Q9H005 Q9H3U9
Alternative splicing: 4 isoforms:  Q9Y3Z3-1   Q9Y3Z3-2   Q9Y3Z3-3   Q9Y3Z3-4   (Catalytically inactive)

Explore the universe of human proteins at neXtProt for SAMHD1: NX_Q9Y3Z3

Explore proteomics data for SAMHD1 at MOPED

Post-translational modifications: 

  • Ubiquitinated and targeted for proteasomal degradation by a DCX (DDB1-CUL4-X-box) E3 ubiquitin ligase with the
    help of the viral accessory protein Vpx1
  • Ubiquitination2 at Lys66, Lys99, Lys148, Lys294, Lys304, Lys312, Lys446, Lys455, Lys486, Lys544
  • Modification sites at PhosphoSitePlus

  • See SAMHD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056289.2  
    ENSEMBL proteins: 
     ENSP00000262878   ENSP00000362798  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SAMD: Sterile alpha motif (SAM) domain containing

    5 InterPro protein domains:
     IPR006674 HD_domain
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR011510 SAM_2
     IPR003607 HD/PDEase_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y3Z3

    ProtoNet protein and cluster: Q9Y3Z3

    3 Blocks protein domains:
    IPB001660 Sterile alpha motif SAM
    IPB006674 Metal-dependent phosphohydrolase
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
    Similarity: Belongs to the SAMHD1 family
    Similarity: Contains 1 HD domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Find genes that share domains with SAMHD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAMH1_HUMAN, Q9Y3Z3
    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
    Catalytic activity: dNTP + H(2)O = Deoxynucleoside + triphosphate
    Enzyme regulation: 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
    Induction: By IFNG/IFN-gamma. Up-regulated in TNF treated lung fibroblasts

         Enzyme Number (IUBMB): EC 3.1.5.-1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IDA--
    GO:0003723RNA binding IDA--
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI--
    GO:0008081phosphoric diester hydrolase activity IEA--
         
    Find genes that share ontologies with SAMHD1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SAMHD1:
     Increased HPV18 LCR reporter a  Increased S DNA content, incre 

         5 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Samhd1):
     cellular  immune system  mortality/aging  no phenotypic analysis  normal 

    Find genes that share phenotypes with SAMHD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SAMHD1: Samhd1tm1.2Crs Samhd1tm1d(EUCOMM)Wtsi Samhd1tm2.1Crs Samhd1tm2.2Crs Samhd1tm1.1Crs

       genOway: Develop your customized and physiologically relevant rodent model for SAMHD1

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    7 qRT-PCR Assays for microRNAs that regulate SAMHD1:
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    SwitchGear 3'UTR luciferase reporter plasmidSAMHD1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAMH1_HUMAN, Q9Y3Z3: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    chloroplast2
    cytosol2
    mitochondrion2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS11064105
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with SAMHD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SAMHD1
    Interactions:

        Search GeneGlobe Interaction Network for SAMHD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for SAMHD1 (Q9Y3Z31, 3 ENSP000002628784) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TIRAPP587531, 3, ENSP000003764454EBI-1054601,EBI-528644 I2D: score=1 STRING: ENSP00000376445
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=1 STRING: ENSP00000356278
    MAP1LC3AQ9H4923I2D: score=2 
    ASH2LQ9UBL33I2D: score=1 
    ATG10Q9H0Y03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006203dGTP catabolic process IDA--
    GO:0006955immune response NAS11064105
    GO:0045087innate immune response IEA--
    GO:0045088regulation of innate immune response IMP19525956
    GO:0046061dATP catabolic process IDA--

    Find genes that share ontologies with SAMHD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SAMHD1 (SAMH1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SAMHD1 gene: 
    NM_015474.3  

    Unigene Cluster for SAMHD1:

    SAM domain and HD domain 1
    Hs.580681  [show with all ESTs]
    Unigene Representative Sequence: NM_015474
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262878(uc010gft.2 uc002xgh.2) ENST00000465985 ENST00000373694

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    7 qRT-PCR Assays for microRNAs that regulate SAMHD1:
    hsa-miR-221* hsa-miR-181c hsa-miR-181a hsa-miR-548c-3p hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidSAMHD1 3' UTR sequence
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    Additional mRNA sequence: 

    AB013847.1 AB208944.1 AF147427.1 AF228421.1 AK027811.1 AK304187.1 AK304795.1 AK311150.1 
    AK315169.1 AL050267.1 BC036450.2 

    13 DOTS entries:

    DT.413583  DT.99934944  DT.92429950  DT.100711750  DT.40231757  DT.65284606  DT.95349378  DT.97840638 
    DT.86858287  DT.92429952  DT.95209249  DT.100803378  DT.95126074 

    Selected AceView cDNA sequences (see all 197):

    BF725869 AI276219 CB215568 BX360240 AI224387 F31380 N22654 BF364525 
    AI246486 BQ024905 AI284002 BP352012 BU621451 AB013847 AI337223 AI493181 
    AA381478 AK027811 BE501937 CD557911 BQ186208 BI518669 BG547029 CK825622 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SAMHD1    About this scheme

    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:                                                                                                                              


    ECgene alternative splicing isoforms for SAMHD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SAMHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAAGCTAA
    SAMHD1 Expression
    About this image


    SAMHD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SAMHD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SAMHD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.580681

    UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SAMHD1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Samhd11 , 5 SAM domain and HD domain, 11, 5 77.16(n)1
    74.55(a)1
      2 (78.00 cM)5
    560451  NM_018851.31  NP_061339.31 
     1570975335 
    chicken
    (Gallus gallus)
    Aves SAMHD11 SAM domain and HD domain 1 66.72(n)
    62.96(a)
      419125  NM_001030845.1  NP_001026016.1 
    lizard
    (Anolis carolinensis)
    Reptilia SAMHD16
    SAM domain and HD domain 1
    59(a)
    1 ↔ 1
    4(135087284-135115922)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004985741 SAM domain and HD domain-containing protein 1-like 64.27(n)
    63.56(a)
      100498574  XM_002932885.2  XP_002932931.2 
    zebrafish
    (Danio rerio)
    Actinopterygii samhd11 SAM domain and HD domain 1 64.69(n)
    66.01(a)
      553453  NM_001159933.1  NP_001153405.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fal6
    falten
    26(a)
    1 ↔ 1
    3L(19287867-19291930)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK177.8b3   -- 33(a)
    (best of 2)
      II(5509210-5511174)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G402901 AT5G40290 48.49(n)
    40.95(a)
      834027  NM_123393.1  NP_198845.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SAMHD1 (see all 1322)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0706334
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0706332 H Y mis40--------
    VAR_0706344
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0706342 R H mis40--------
    VAR_0584884
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584882 L S mis40--------
    VAR_0584824
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584822 R C mis40--------
    VAR_0584874
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584872 M V mis40--------
    VAR_0584864
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584862 G S mis40--------
    VAR_0584834
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584832 R H mis40--------
    VAR_0584894
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584892 M V mis40--------
    VAR_0584854
    Chilblain lupus 2 (CHBL2)4--see VAR_0584852 I N mis40--------
    VAR_0584814
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584812 H P mis40--------

    HapMap Linkage Disequilibrium report for SAMHD1 (35518632 - 35580246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SAMHD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668593CNV Deletion23128226
    esv2677733CNV Deletion23128226
    esv27677CNV Loss19812545
    nsv912866CNV Loss21882294

    Human Gene Mutation Database (HGMD): SAMHD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SAMHD1
    DNA2.0 Custom Variant and Variant Library Synthesis for SAMHD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606754   
    OMIM disorders: 612952  614415  
    UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
  • 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. 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. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 6 diseases for SAMHD1:    
    About MalaCards
    chilblain lupus 2    aicardi-goutieres syndrome type 5    chilblain lupus    aicardi-goutieres syndrome 7
    aicardi-goutieres syndrome    hemoglobinopathy

    3 diseases from the University of Copenhagen DISEASES database for SAMHD1:
    Aicardi-Goutieres syndrome     Thalassemia     Hemoglobinopathy

    Find genes that share disorders with SAMHD1           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: SAMHD1 (1 document)

    Export disorders for SAMHD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SAMHD1 gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with SAMHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells. (PubMed id 11064105)1, 2, 3 Li N.... Cao X. (Immunol. Lett. 2000)
    3. Structural basis of lentiviral subversion of a cellular protein degradation pathway. (PubMed id 24336198)1, 2 Schwefel D.... Taylor I.A. (Nature 2014)
    4. Mechanism of allosteric activation of SAMHD1 by dGTP. (PubMed id 24141705)1, 2 Ji X.... Xiong Y. (Nat. Struct. Mol. Biol. 2013)
    5. Identification and characterization of naturally occurring splice variants of SAMHD1. (PubMed id 23092512)1, 2 Welbourn S.... Strebel K. (Retrovirology 2012)
    6. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. (PubMed id 21204240)1, 2 Ravenscroft J.C.... Crow Y.J. (Am. J. Med. Genet. A 2011)
    7. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. (PubMed id 22056990)1, 2 Goldstone D.C.... Webb M. (Nature 2011)
    8. Cerebral arterial stenoses and stroke: novel features of Aicardi- Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. (PubMed id 20842748)1, 2 Thiele H.... Rutsch F. (Hum. Mutat. 2010)
    9. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. (PubMed id 19525956)1, 2 Rice G.I.... Crow Y.J. (Nat. Genet. 2009)
    10. Dendritic cell-derived interferon-gamma-induced protein mediates tumor necrosis factor-alpha stimulation of human lung fibroblasts. (PubMed id 18546154)1, 2 Liao W.... Wong W.S. (Proteomics 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25939 HGNC: 15925 AceView: SAMHD1 Ensembl:ENSG00000101347 euGenes: HUgn25939
    ECgene: SAMHD1 H-InvDB: SAMHD1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SAMHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SAMHD1 gene:
    Search GeneIP for patents involving SAMHD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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