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

SAMHD1 Gene

protein-coding   GIFtS: 54
GCID: GC20M035518

SAM domain and HD domain 1
 Explore 15 diseases affiliated with
SAMHD1 via
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 Human Malady Compendium 
Biological research products
for SAMHD1    

Aliases
for SAMHD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SAM Domain And HD Domain 11 2     AGS51 5
MOP-51 2 3     Mg111
DCIP2 3 5     CHBL22
HDDC11 2     SAM Domain And HD Domain-Containing Protein 12
SBBI881 2     EC 3.1.4.-3
Dendritic Cell-Derived IFNG-Induced Protein2 3     MOP53
Monocyte Protein 52 3     

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


Summaries
for SAMHD1 gene

(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:
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)

UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
Function: Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic
antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling

Gene Wiki entry for SAMHD1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
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 plasmid: SAMHD1 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: 20pter-q12

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

Proteins
for SAMHD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3 (See protein sequence)
Recommended Name: SAM domain and HD domain-containing protein 1  
Size: 626 amino acids; 72201 Da
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: 2 isoforms:  Q9Y3Z3-1   Q9Y3Z3-2   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y3Z3

    • SAMHD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056289.2  
    ENSEMBL proteins: 
     ENSP00000262878   ENSP00000362798  

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    Novus Biologicals SAMHD1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for SAMHD1

    Protein Domains /
    Families
    for SAMHD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SAMHD1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for SAMHD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
    Function: Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic
    antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling
    Induction: By IFNG/IFN-gamma. Up-regulated in TNF treated lung fibroblasts

    Enzyme Number (IUBMB): EC 3.1.4.-1

    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 plasmid: SAMHD1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IDA--
    GO:0003723RNA binding IDA--
    GO:0005515protein binding IPI--
    GO:0008081phosphoric diester hydrolase activity IEA--
    GO:0046872metal ion binding IEA--


    SAMHD1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for SAMHD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for SAMHD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about SAMHD1 / SAMH1 

    Transcripts
    for SAMHD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


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    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 plasmid: SAMHD1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAMHD1
    Clone
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    Additional cDNA 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):

    AI337223 AA479971 CA392465 AK027811 AA421603 CD557911 AI224387 AA381478 
    BG547029 CB215568 AI246486 BF725869 BM773420 AI857756 AB013847 CR614403 
    F31380 BQ186208 BM679312 CR612530 BP343654 N22654 AA057695 BE501937 

    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

    Expression
    for SAMHD1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGAAGCTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SAMHD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Matrigel embedded cells (Derivation of cardio...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for SAMHD1 gene

    (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 8/25 species (see all 25)    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
    		 --
    		 61(a)
    		 1 ↔ 1
    		 4(135087597-135115922)
    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
    		 23(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 
    rice
    (Oryza sativa)    		 Liliopsida --
    		 HD domain containing protein 2, putative, expresse...
    		 26(a)
    		 1 ↔ 1
    		 1(497454-505264)


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

    Paralogs
    for SAMHD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for SAMHD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1070 NCBI SNPs in SAMHD1 are shown (see all 1070)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs562858931,2
    		C--32267647(+) TTTTT-/TGGAGA 1 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs113268421,2
    		C--32285228(+) AAAAA-/ACCCAC 1 -- int1 trp32Minor allele frequency- A:0.00NA CSA 4
    rs60299431,2
    		H--35519816(+) GCTTAG/TTCCGG 2 -- ds5001 int14Minor allele frequency- T:0.00NS EA 420
    rs72652411,2
    		C,F,A,H,--35519946(+) TTGCTA/GTAGAA 2 -- int1 ds500123Minor allele frequency- G:0.05NS EA NA WA 2584
    rs60726111,2
    		H--35519962(+) AATGAG/AGTGTG 2 -- ds5001 int12Minor allele frequency- A:0.00EA NS 178
    rs1855964351,2
    		--35520127(+) ACTCTC/GTCACC 2 -- ds5001 int10--------
    rs1900611541,2
    		--35520214(+) GCCTCC/TCAAGT 2 -- int1 ds50010--------
    rs1164895171,2
    		F,--35520327(+) TCTGAG/CGATGA 2 -- int1 ut311Minor allele frequency- C:0.02WA 118
    rs1816890641,2
    		--35520465(+) TACCCA/GGGTCT 2 -- int1 ut310--------
    rs1858748271,2
    		--35520549(+) GAGGCA/GGCTTT 2 -- int1 ut310--------

    HapMap Linkage Disequilibrium report for SAMHD1 (35518632 - 35580246 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SAMHD1
         1 CNV: 67682
    Human Gene Mutation Database (HGMD): SAMHD1

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    Disorders / Diseases
    for SAMHD1 gene

    (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.)
    About This Section
    SAMHD1 for disorders           About GeneDecksing

    OMIM gene information: 606754   
    OMIM disorders: 612952  
    UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
  • Defects in SAMHD1 are the cause of Aicardi-Goutieres syndrome type 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
  • Defects in SAMHD1 are the cause of chilblain lupus type 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

    15 diseases for SAMHD1:    About MalaCards
    aicardi-goutieres syndrome    aicardi-goutieres syndrome type 5    chilblain lupus    hemoglobinopathy
    cerebral atrophy    arthropathy    microcephaly    thalassemia
    hepatitis b    spasticity    choroiditis    cerebritis
    hepatitis    pneumonia    malaria

    3 diseases from the University of Copenhagen DISEASES database for SAMHD1:
    Aicardi-Goutieres syndrome     Thalassemia     Hemoglobinopathy
    Human Genome Epidemiology (HuGE) Navigator: SAMHD1 (1 document)

    Export disorders for SAMHD1 gene to outside databases

    Publications
    for SAMHD1 gene

    (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 57):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    10. Functional analysis of the relationship between Vpx an d the restriction factor SAMHD1. (PubMed id 23076149)1 Berger G....Cimarelli A. (2012)

    External Searches for SAMHD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing SAMHD1 gene

    (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

    Other Databases showing SAMHD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SAMHD1 gene

    (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

    Intellectual Property
    for SAMHD1 gene

    (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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