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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SAMHD1 Gene

protein-coding   GIFtS: 57
GCID: GC20M035518

SAM Domain And HD Domain 1

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
SAM Domain And HD Domain 11 2     HD Domain Containing 11
Monocyte Protein 51 2 3     CHBL22
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
Aicardi-Goutieres Syndrome 51     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SAMHD1 Gene:
This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in
response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory
responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. (provided by RefSeq, Mar
2010)

GeneCards Summary for SAMHD1 Gene: 
SAMHD1 (SAM domain and HD domain 1) is a protein-coding gene. Diseases associated with SAMHD1 include aicardi-goutieres syndrome type 5, and cerebral vasculopathy with early-onset stroke. 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. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SAMHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3 (See protein sequence)
Recommended Name: Deoxynucleoside triphosphate triphosphohydrolase SAMHD1  
Size: 626 amino acids; 72201 Da
Subunit: Homodimer
Subcellular location: Nucleus
2 PDB 3D structures from and Proteopedia for SAMHD1:
2E8O (3D)        3U1N (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:

  • UniProtKB: Ubiquitinated and targeted for proteasomal degradation by a DCX (DDB1-CUL4-X-box) E3 ubiquitin ligase with the
    help of the viral accessory protein Vpx
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y3Z3

  • SAMHD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAMHD1 Protein Expression
    REFSEQ proteins: NP_056289.2  
    ENSEMBL proteins: 
     ENSP00000262878   ENSP00000362798  

    Human Recombinant Protein Products for SAMHD1: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SAMHD1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS11064105
    GO:0005634nucleus IDA--

    SAMHD1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    SAMHD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

         Enzyme Number (IUBMB): EC 3.1.5.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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--
         
    SAMHD1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SAMHD1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAMHD1 
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    miRNA
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    7 QIAGEN miScript miRNA 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
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMHD1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAMHD1

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

    5/26 Interacting proteins for SAMHD1 (Q9Y3Z31, 3 ENSP000002628784) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS11064105
    GO:0045087innate immune response IEA--
    GO:0045088regulation of innate immune response IMP19525956
    GO:0051607defense response to virus IMP19525956

    SAMHD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SAMHD1 (SAMH1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    7 QIAGEN miScript miRNA 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
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SAMHD1 (NM_015474)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAMHD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAMHD1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAMHD1

    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 

    24/197 AceView cDNA sequences (see all 197):

    AI224387 AI887314 CK825622 BF725869 AI857756 AB013847 AK027811 CR614403 
    N22654 CA392465 NM_015474 BE501937 BE221395 BQ024905 BX416867 AA057695 
    AI284002 BM679312 AI493181 BU621451 AI337223 AI276219 BQ059087 BQ186208 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SAMHD1 expression in normal human tissues (normalized intensities)      SAMHD1 embryonic expression: see
    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 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             lung ; pneumocytes   
             trachea   

    See SAMHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAMHD1

    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

        SABiosciences Custom PCR Arrays for SAMHD1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAMHD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAMHD1

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SAMHD1 gene from 7/14 species (see all 14)    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
    Uncharacterized protein
    58(a)
    1 ↔ 1
    4(135087284-135115922)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-44b8.81 si:dkeyp-44b8.8 64.69(n)
    66.01(a)
      553453  NM_001159933.1  NP_001153405.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fal6
    falten
    27(a)
    1 ↔ 1
    3L(19287867-19291930)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK177.8b3
    ZK177.81
    Protein ZK177.81 33(a)
    (best of 2)3
    50.5(n)1
    37.06(a)1
      II(5509210-5511174)3
    1739371  NM_062653.21  NP_495054.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G402901 metal-dependent phosphohydrolase HD domain-containing more 48.41(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1320 SNPs in SAMHD1 are shown (see all 1320)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0584864
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584862 G S 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_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_0584874
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584872 M V mis40--------
    VAR_0584854
    Chilblain lupus 2 (CHBL2)4--see VAR_0584852 I N mis40--------
    VAR_0584844
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584842 R Q mis40--------
    VAR_0584814
    Aicardi-Goutieres syndrome 5 (AGS5)4--see VAR_0584812 H P mis40--------
    rs2676070271,2
    Cpathogenic135528837(-) ACAATC/TGATTT 2 R * stg10--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606754   
    OMIM disorders: 612952  
    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

  • 17 diseases for SAMHD1:    About MalaCards
    aicardi-goutieres syndrome type 5    cerebral vasculopathy with early-onset stroke    chilblain lupus    aicardi-goutieres syndrome
    cerebral atrophy    hemoglobinopathy    arthropathy    microcephaly
    thalassemia    choroiditis    thrombocytopenia    spasticity
    cerebritis    pneumonia    hepatitis b    lupus erythematosus
    hepatitis

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

    SAMHD1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SAMHD1 gene, integrated from 9 sources (see all 77):
    (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. (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. (2000)
    3. Identification and characterization of naturally occurring splice variants of SAMHD1. (PubMed id 23092512)1, 2 Welbourn S.... Strebel K. (2012)
    4. Autosomal dominant inheritance of a heterozygous muta tion in SAMHD1 causing familial chilblain lupus. (PubMed id 21204240)1, 2 Ravenscroft J.C....Crow Y.J. (2011)
    5. HIV-1 restriction factor SAMHD1 is a deoxynucleoside t riphosphate triphosphohydrolase. (PubMed id 22056990)1, 2 Goldstone D.C....Webb M. (2011)
    6. 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. (2010)
    7. 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. (2009)
    8. 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. (2008)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25939 HGNC: 15925 AceView: SAMHD1 Ensembl:ENSG00000101347 euGenes: HUgn25939
    ECgene: SAMHD1 H-InvDB: SAMHD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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