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SAMHD1 Gene

protein-coding   GIFtS: 56

GC20M034954
SAM domain and HD domain 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DCIP 2, 3
HDDC1 1, 2
MOP-5 1, 2, 3
MOP5 3
Mg11 1
OTTHUMP00000030889 2
SBBI88 1, 2
Descriptions
Dendritic cell-derived IFNG-induced protein 2, 3
HD domain containing 1 2
Monocyte protein 5 2, 3
SAM domain and HD domain 1 2
SAM domain- and HD domain-containing protein 1 2
External Ids
HGNC: 159251
Entrez Gene: 259392
UniProtKB: Q9Y3Z33
Ensembl: ENSG000001013477
Search outside databases for aliases for SAMHD1 gene

Previous GC identifers: GC20M035247 GC20M036157 GC20M036206

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
Function: May play a role in mediating proinflammatory responses to TNF-alpha signaling

Gene Wiki entry for SAMHD1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SAMHD1 gene  

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)

GeneLoc gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M034954:     (about GC identifiers)

Start:
34,954,059 bp from pter
End:
35,013,590 bp from pter
Size:
59,532 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000020.9  NT_011362.9  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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
PDB structures from and Proteopedia :
2E8O (3D)    
Secondary accessions: Q5JXG8 Q9H004 Q9H005 Q9H3U9

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_056289.2  

    ENSEMBL proteins: 
    ENSP00000362798 ENSP00000262878 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (SAMHD1)
    Human Recombinant Proteins from Abnova (SAMHD1)
                  OriGene Purified Recombinant Human Protein: SAMHD1 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular NAS11064105
    GO:0005634 nucleus IDA11256614
    About this table

    Antibodies for SAMHD1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SAMHD1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SAMHD1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (SAMHD1)
    Novus Biologicals Antibodies for SAMHD1

    Assays for SAMHD1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    4 InterPro domains/families:
     IPR006674 Met-dep_phosphohydro_HD_sub
     IPR001660 SAM
     IPR011510 SAM_2
     IPR003607 Met-dep_phosphohydro_HD


       GeneDecks  SAMHD1 for the domains selected above  
    About GeneDecksing

    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: Contains 1 HD domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SAMHD1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015474

                  Applied Biosystems Silencer® siRNAs for SAMHD1

                  Sigma-Aldrich siRNA and siRNA Panels for SAMHD1  
                         Sigma-Aldrich shRNA for SAMHD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SAMHD1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015474
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015474
                                     untagged cDNA clone in CMV expression vector: NM_015474 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_015474

    UniProtKB/Swiss-Prot: SAMH1_HUMAN, Q9Y3Z3
    Function: May play a role in mediating proinflammatory responses to TNF-alpha signaling
    Induction: By interferon gamma. Up-regulated in TNF-alpha treated lung fibroblasts

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824 catalytic activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    1 Interacting protein for SAMHD1 (ENSP000002628783) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DECR1ENSP000002207643STRING (score=.71)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955 immune response NAS11064105
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for SAMHD1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SAMHD1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_015474

                  Sigma-Aldrich siRNA and siRNA Panels for SAMHD1  
                         Sigma-Aldrich shRNA for SAMHD1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_015474  

    REFSEQ mRNAs for SAMHD1 gene: 

    NM_015474.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_015474  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015474
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015474
                                     untagged cDNA clone in CMV expression vector: NM_015474 

    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 CR614403.1 

    13 DOTS entries:

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

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

    BE501937 CR614403 AB013847 AI246486 CB215568 BP343654 BG547029 AI493181 
    AI224387 CA392465 AA057695 AI857756 BU621451 N22654 BX416867 AI284002 
    CK825622 CR612530 BF725869 BF364525 NM_015474 BI494512 BM679312 AA421603 

    highest scoring ESTs for SAMHD1:

    AL050267 AA423904 AA496236 AB013847 AF228421 AK027811 AW504769 BC036450 BG547029 BG702214 

    Unigene Cluster for SAMHD1:

    SAM domain and HD domain 1
    Hs.580681  [show with all ESTs]
    Unigene Representative Sequence: AB208944


    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -           -                             -                                                         
    SP2:                          -                                                                                                   
    SP3:                          -           -     -                                                                                 
    SP4:                                                                                                                              

    About this scheme

    ECgene alternative splicing isoforms for SAMHD1

    2 Ensembl transcripts including schematic representations:
    ENST00000373694  ENST00000262878  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SAMHD1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SAMHD1

    1 / 2 / 3

    6 probe-sets matching SAMHD1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34714_at2, 3 U95-A 1 1.00 1.00 0.96 0.78 AL050267 1.00 1.00 1.00 1

    61839_at2, 3 U95-C 1 0.69 1.00 0.86 1.22 AA423904 0.80 1.00 0.91 1

    204502_at2, 3 U133-A 1 1.00 1.00 -- -- NM_015474 0.60 1.00 0.82 1

    1559883_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    204502_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1559882_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  SAMHD1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTGAAGCTAA

    SOURCE GeneReport for Unigene cluster: Hs.580681

    Expression variation in blood from EXPOLDB for SAMHD1

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for SAMHD1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SAMHD11   -- SAM domain and HD domain 1 84.08(n)
    77.8(a)
    485862  XM_542986.2  XP_542986.2 
    chimpanzee
    (Pan troglodytes)
    SAMHD11   -- SAM domain and HD domain 1 99.25(n)
    98.87(a)
    458223  XM_514624.2  XP_514624.2 
    cow
    (Bos taurus)
    SAMHD11   -- SAM domain and HD domain 1 85(n)
    78.56(a)
    524683  NM_001075861.1  NP_001069329.1 
    rat
    (Rattus norvegicus)
    Samhd11   -- SAM domain and HD domain, 1 76.17(n)
    74.5(a)
    311580  XM_230789.4  XP_230789.4 
    mouse
    (Mus musculus)
    Samhd11, 5 25
    SAM domain and HD domain, 11, 5 77.16(n)1
    74.55(a)1
    560451  NM_018851.21  NP_061339.21 
     AK0544905  AK0789365  (see all 26)
    About this table        Species with no ortholog for SAMHD1

    ENSEMBL Gene Tree for SAMHD1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/397 NCBI SNPs in SAMHD1 are shown (see all 397 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 91)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs72630491,2
    F,H35014378(+) AGGACG/TAATGA 1 -- ng314Minor allele frequency- T:0.03EU EA WA 388
    rs60303991,2
    H35014590(+) TCTAAG/AGGTTT 1 -- ng311Minor allele frequency- A:0.00EU 102
    rs61300371,2
    H34959697(+) CGGCAT/CACAAA 1 C/Y mis1 ese34Minor allele frequency- C:0.00EU EA WA 418
    --
    rs178556001,2
    H34959748(+) GCTCTG/ACAAAT 1 V/A mis1 ese34Minor allele frequency- A:0.00EU EA WA 416
    rs50224841,2
    H34960309(+) AGAAGC/ATAACA 1 I/S mis1 ese34Minor allele frequency- A:0.00EU EA WA 420
    rs283729061,2
    F35013570(-) GCCAAT/CAGGCT 1 -- ut51 ese32Minor allele frequency- C:0.03MN EA 1252
    rs72717761,2
    A,H35008593(+) AGACAA/GGGCAG 1 P/P syn14Minor allele frequency- G:0.00EU EA WA 416
    rs12911421,2
    A,C,F,H,O34958776(+) CTGCCA/GAATAT 1 -- int111Minor allele frequency- G:0.49EU EA WA NA 982
    rs12911491,2
    A,C,F,H,O34966876(+) CATGTC/TTGAAT 1 -- int112Minor allele frequency- N:0.00EU EA WA NA 990
    rs18916431,2
    A,C,F,H,O35003425(+) TTTGAA/GCAGCT 1 -- int113Minor allele frequency- G:0.48MN EU EA WA NA 1236
    About this table

    HapMap Linkage Disequilibrium images for SAMHD1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 606754

    1 PharmGKB disease relationship for SAMHD1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/12 PubMed articles for SAMHD1 gene (see all 12 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SAMHD1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for SAMHD1 Antibodies for SAMHD1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SAMHD1 Browse small molecules at Sigma-Aldrich
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     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for SAMHD1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for SAMHD1

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