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SAMSN1 Gene

protein-coding   GIFtS: 54

GC21M014779
SAM domain, SH3 domain and nuclear localization signals 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, and/or 9Nature:405,311-319 and CroW21)
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Aliases
HACS1 2, 3, 5
NASH1 1, 2
OTTHUMP00000083034 2
SASH2 1, 2
SH3D6B 1, 2
Descriptions
Hematopoietic adaptor containing SH3 and SAM domains 1 2, 3
SAM and SH3 domain containing 2 2
SAM domain, SH3 domain and nuclear localisation signals, 1 2
SAM domain, SH3 domain and nuclear localization signals 1 2
SAM domain, SH3 domain and nuclear localization signals
protein 1 3
SAM domain, SH3 domain and nuclear localization signals, 1 2
SH3-SAM adaptor protein 2, 3
gene with homology to KIAA0790 protein 9
nuclear localization signals, SAM and SH3 domain containing
1 2
External Ids
HGNC: 105281
Entrez Gene: 640922
UniProtKB: Q9NSI83
Ensembl: ENSG000001553077
Search outside databases for aliases for SAMSN1 gene

Previous GC identifer: GC21M012521

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for SAMSN1:
SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3
and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM]

(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q11   Ensembl cytogenetic band:  21q11.2   HGNC cytogenetic band: 21q11
Nature(405: 311-319) cytogenetic band:   21q11
SAMSN1 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 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M014779:   GeneLoc Nature:405,311-319
Start:
14,779,420 bp from pter       1,521,779 bp from centromere
End:
14,877,968 bp from pter 1,582,895 bp from centromere
Size:
98,549 bases 61,117 bases
Orientation:
minus strand minus strand
RefSeq DNA sequence:
NC_000021.7  NT_011512.10  

genomic clones: P31B5 CIT39I12

(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: SAMN1_HUMAN, Q9NSI8 (See protein sequence)
Recommended Name: SAM domain-containing protein SAMSN-1  
Size: 373 amino acids; 41708 Da
Secondary accessions: Q8NFF7 Q9C041
Alternative splicing: 3 isoforms:  Q9NSI8-1   Q9NSI8-2   Q9NSI8-3   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_071419.3  

    ENSEMBL proteins: 
    ENSP00000374091 ENSP00000383409 ENSP00000383411 ENSP00000285670 ENSP00000374089 


    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 (SAMSN1)
    Human Recombinant Proteins from Abnova (SAMSN1)
                  OriGene Purified Recombinant Human Protein: SAMSN1 


    Antibodies for SAMSN1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SAMSN1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (SAMSN1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (SAMSN1)
    Novus Biologicals Antibodies for SAMSN1

    Assays for SAMSN1: 
    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

    5 InterPro domains/families:
     IPR011511 SH3_2
     IPR013761 SAM_type
     IPR001660 SAM
     IPR011510 SAM_2
     IPR001452 SH3_domain


       GeneDecks  SAMSN1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9NSI8

    ProtoNet protein and cluster: Q9NSI8

    4 Blocks protein families:
    IPB001452 SH3 domain signature
    IPB001660 Sterile alpha motif SAM
    IPB011510 Sterile alpha motif homology 2
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: SAMN1_HUMAN, Q9NSI8
    Similarity: Contains 1 SAM (sterile alpha motif) domain
    Similarity: Contains 1 SH3 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 (SAMSN1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SAMSN1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022136

                  Applied Biosystems Silencer® siRNAs for SAMSN1

                  Sigma-Aldrich siRNA for SAMSN1  
                         Sigma-Aldrich shRNA for SAMSN1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SAMSN1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_022136
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_022136
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_022136 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_022136

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001784 phosphotyrosine binding IDA15381729
    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



    5/16 Interacting proteins for SAMSN1 (ENSP000003740913) via UniProtKB, MINT, and/or STRING (see all 16 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DGKDENSP000002640573STRING (score=.894)
    DGKHENSP000003685763STRING (score=.881)
    SAMD9ENSP000003692923STRING (score=.871)
    SAMD4AENSP000003502613STRING (score=.864)
    SHANK1ENSP000002934413STRING (score=.854)
    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 SAMSN1

    (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 (SAMSN1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SAMSN1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022136

                  Sigma-Aldrich siRNA for SAMSN1  
                         Sigma-Aldrich shRNA for SAMSN1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_022136  

    REFSEQ mRNAs for SAMSN1 gene: 

    NM_022136.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_022136  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_022136
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_022136
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_022136 

    Additional cDNA sequence: 

    AF218085.2 AF222927.1 AF519621.1 AK125144.1 BC020638.1 BC029112.1 

    7 DOTS entries:

    DT.310172  DT.100674977  DT.40315641  DT.92422306  DT.95265495  DT.100767140  DT.92422302 

    24/81 AceView cDNA sequences (see all 81 ):

    CD677382 AA831672 AI223999 BF796389 NM_022136 N67227 AA747998 BM795668 
    AA741162 BM714776 AF222927 CA307579 AI635436 BC029112 AI357169 AW297416 
    CF551990 BG492933 BX336008 BF515624 BG494696 AF519621 C01451 AF218085 

    highest scoring ESTs for SAMSN1:

    AF218085 AF222927 AF519621 AI640500 AI823872 AK125144 BC029112 BF796389 BU198359 BU942875 

    Unigene Cluster for SAMSN1:

    SAM domain, SH3 domain and nuclear localization signals 1
    Hs.473341  [show with all ESTs]
    Unigene Representative Sequence: AF218085


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SAMSN1 (see all 6 )

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:        -     -     -                 -                                   -     -               
    SP2:                    -                 -                                   -     -               
    SP3:                    -     -     -     -     -     -     -                 -     -               
    SP4:                                                                                                
    SP5:                                                                                                

    About this scheme

    ECgene alternative splicing isoforms for SAMSN1

    5 Ensembl transcripts including schematic representations:
    ENST00000389440  ENST00000400564  ENST00000400566  ENST00000285670  ENST00000389438  
    (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

    SAMSN1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SAMSN1

    1 / 2 / 3

    5 probe-sets matching SAMSN1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    90293_at2, 3 U95-D 1 1.00 1.00 0.99 0.93 AI640500 0.80 1.00 0.91 1
    50026_at2, 3 U95-B 1 1.00 1.00 0.99 1.07 AI823872 0.80 1.00 0.91 1

    220330_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_022136 0.60 1.00 0.82 1

    1555638_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    220330_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  SAMSN1 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: --

    SOURCE GeneReport for Unigene cluster: Hs.473341
    (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 SAMSN1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SAMSN11   -- SAM domain, SH3 domain and nuclear localization signals more 90.68(n)
    90.96(a)
    608104  XM_845009.1  XP_850102.1 
    chimpanzee
    (Pan troglodytes)
    SAMSN11   -- SAM domain, SH3 domain and nuclear localization signals more 98.87(n)
    97.74(a)
    458470  XM_001154786.1  XP_001154786.1 
    cow
    (Bos taurus)
    SAMSN11   -- SAM domain, SH3 domain and nuclear localization signals more 88.43(n)
    87.43(a)
    534171  NM_001035404.1  NP_001030481.1 
    rat
    (Rattus norvegicus)
    Samsn11   -- SAM domain, SH3 domain and nuclear localization signals, more 81.03(n)
    80.39(a)
    170637  NM_130821.1  NP_570834.1 
    mouse
    (Mus musculus)
    Samsn11, 5 165
    SAM domain, SH3 domain and nuclear localization signals, more1, 5 83.42(n)1
    83.87(a)1
    677421  NM_023380.21  NP_075869.21 
     AF2229285  AK0089135  (see all 12)
    About this table        Species with no ortholog for SAMSN1

    ENSEMBL Gene Tree for SAMSN1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SAMSN1 gene
    SASH32  SASH12  

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


    10/560 NCBI SNPs in SAMSN1 are shown (see all 560 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 217)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 21 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs123296571,2
    A,C,F,H14840585(+) CCTTCG/AGTCAG 1 -- ng3112Minor allele frequency- A:0.42EU EA WA 1258
    rs28227621,2
    A,C,F,O14842056(+) TTTCAA/TGATTA 1 -- ng315Minor allele frequency- T:0.26NA EA 1462
    rs38105761,2
    C,F,H14841833(+) AAATCA/TACTGA 1 -- ng315Minor allele frequency- T:0.40EA EU WA 1714
    rs126265931,2
    C,F,H14779717(+) GAATCC/GTCTAT 1 -- ut31 ese38Minor allele frequency- G:0.13EU EA WA 840
    rs170032641,2
    C,F,H14779296(+) ATGAGT/GTTGAG 1 -- ng5111Minor allele frequency- G:0.17NA EU EA WA 976
    --
    rs124829451,2
    A,C14842336(+) TCGACA/GCCCTC 1 -- ng310--------
    rs346075741,2
    C,F14811175(-) TAATGG/CAGGCG 1 A/G mis15Minor allele frequency- C:0.03NA EU EA WA 496
    --
    rs172743241,2
    F14841842(+) GACTCT/CATTTC 1 -- ng313Minor allele frequency- C:0.01NA 136
    rs130528731,2
    F14840814(+) AAATCG/AGAGCC 1 -- ng314Minor allele frequency- A:0.32NA EA 362
    rs72811041,2
    A,C,F,H14840448(+) CTCTTG/CAGCAT 1 L/L syn116Minor allele frequency- C:0.28NA EU EA WA 1478
    About this table

    HapMap Linkage Disequilibrium images for SAMSN1 (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: 607978

    (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

    7 PubMed articles for SAMSN1 gene:
    (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: 64092 HGNC: 10528 AceView: SAMSN1 Ensembl:ENSG00000155307 euGenes: HUgn64092
    ECgene: SAMSN1 H-InvDB: SAMSN1
    (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

    NameDescription
    ATLAS Chromosomes in Cancer entry for SAMSN1 Genetics and Cytogenetics in Oncology and Haematology
    (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 SAMSN1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for SAMSN1 Antibodies for SAMSN1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SAMSN1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (SAMSN1)
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     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for SAMSN1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for SAMSN1

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