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

SMS Gene

protein-coding   GIFtS: 64
GCID: GC0XP021958

Spermine Synthase

(Previous name: Snyder-Robinson X-linked mental retardation syndrome)
(Previous symbol: SRS)
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
Spermine Synthase1 2     MRSR2 5
SRS1 2 5     Snyder-Robinson X-Linked Mental Retardation Syndrome1
Spermidine Aminopropyltransferase2 3     SpS2
SPMSY2 3     EC 2.5.1.223

External Ids:    HGNC: 111231   Entrez Gene: 66112   Ensembl: ENSG000001021727   OMIM: 3001055   UniProtKB: P527883   

Export aliases for SMS gene to outside databases

Previous GC identifers: GC0XP020700 GC0XP020548 GC0XP021160 GC0XP021320 GC0XP021718 GC0XP021868 GC0XP019699


(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 SMS Gene:
This gene encodes a protein belonging to the spermidine/spermin synthase family. Pseudogenes of this gene are
located on chromosomes 1, 5, 6 and X. Mutations in this gene are associated with X-linked Snyder-Robinson mental
retardation syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, May 2012)

GeneCards Summary for SMS Gene: 
SMS (spermine synthase) is a protein-coding gene. Diseases associated with SMS include snyder-robinson syndrome, and smith magenis syndrome, and among its related super-pathways are Metabolic pathways and Urea cycle and metabolism of amino groups. GO annotations related to this gene include spermine synthase activity and spermidine synthase activity.

UniProtKB/Swiss-Prot: SPSY_HUMAN, P52788
Function: Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM)

Gene Wiki entry for SMS 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_000023.10  NT_167197.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMS gene promoter:
         MAZR   AP-1   ATF-2   Nkx5-1   HNF-4alpha1   c-Ets-1   PPAR-gamma1   c-Jun   PPAR-gamma2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMS promoter sequence
   Search SABiosciences Chromatin IP Primers for SMS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMS


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

Entrez Gene cytogenetic band: Xp22.1   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.1

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP021958:  view genomic region     (about GC identifiers)

Start:
21,958,691 bp from pter      End:
22,025,798 bp from pter
Size:
67,108 bases      Orientation:
plus 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: SPSY_HUMAN, P52788 (See protein sequence)
Recommended Name: Spermine synthase  
Size: 366 amino acids; 41268 Da
Subunit: Homodimer. Dimerization is mediated through the N-terminal domain and seems to be required for activity
as deletion of the N-terminal domain causes complete loss of activity
2 PDB 3D structures from and Proteopedia for SMS:
3C6K (3D)        3C6M (3D)    
Secondary accessions: A6NHA7 A6NI34 B2R9M0 O00544 Q9UQS1
Alternative splicing: 2 isoforms:  P52788-1   P52788-2   (Gene prediction confirmed by EST data)

Explore the universe of human proteins at neXtProt for SMS: NX_P52788

Explore proteomics data for SMS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52788

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

    SMS Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001245352.1  NP_004586.2  

    ENSEMBL proteins: 
     ENSP00000385746   ENSP00000368714   ENSP00000407366   ENSP00000388906  
    Reactome Protein details: P52788
    Human Recombinant Protein Products for SMS: 
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    Novus Biologicals SMS Proteins
    Novus Biologicals SMS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SMS
    Cloud-Clone Corp. Proteins for SMS 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    SMS for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for SMS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR015576 Spermine_synthase
     IPR001045 Spermidine/spermine_synthase

    Graphical View of Domain Structure for InterPro Entry P52788

    ProtoNet protein and cluster: P52788

    UniProtKB/Swiss-Prot: SPSY_HUMAN, P52788
    Domain: Composed of 3 domains: the N-terminal domain has structural similarity to S-adenosylmethionine
    decarboxylase, the central domain is made up of four beta strands and the C-terminal domain is similar in
    structure to spermidine synthase. The N- and C-terminal domains are both required for activity
    Similarity: Belongs to the spermidine/spermine synthase family


    SMS 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: SPSY_HUMAN, P52788
    Function: Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM)
    Catalytic activity: S-adenosylmethioninamine + spermidine = S-methyl-5'-thioadenosine + spermine

         Genatlas biochemistry entry for SMS:
    spermine synthase,ubiquitously expressed,polyamine blocking the inwardly rectifying K+ channel present in the
    inner ear,38kb telomeric to PEX,ubiquitous

         Enzyme Number (IUBMB): EC 2.5.1.221

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004766spermidine synthase activity TAS9299240
    GO:0016768spermine synthase activity IEA--
         
    SMS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMS:
     Increased homologous recombina 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sms):
     behavior/neurological  growth/size  hematopoietic system  immune system  reproductive system 
     skeleton 

    SMS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMS 

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SMS:
    hsa-miR-148b hsa-miR-130a* hsa-miR-23c hsa-miR-152 hsa-miR-23b hsa-miR-3613-3p hsa-miR-23a hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidSMS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMS
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of SMS 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMS


    (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

    SuperPaths for SMS About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    3Glutathione metabolism
    Glutathione metabolism0.67
    4Methionine salvage pathway
    Metabolism of polyamines0.40
    5Cysteine and methionine metabolism
    Cysteine and methionine metabolism0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SMS
        Urea cycle and metabolism of amino groups
    spermine biosynthesis


    3        Reactome Pathways for SMS
        Metabolism of polyamines
    Metabolism
    Metabolism of amino acids and derivatives


    5         Kegg Pathways  (Kegg details for SMS):
        Cysteine and methionine metabolism
    Arginine and proline metabolism
    beta-Alanine metabolism
    Glutathione metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SPSY_HUMAN, P52788
    Pathway: Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1


    SMS for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/19 Interacting proteins for SMS (P527882, 3 ENSP000003857464) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EZH2Q159102, 3MINT-64273 I2D: score=4 
    MAPK6Q166592, 3MINT-8261989 I2D: score=2 
    MAPK8IP2Q133872, 3MINT-8262613 I2D: score=2 
    MAPKAPK3Q166442, 3MINT-8262775 I2D: score=2 
    RPS6KA3P518122, 3, ENSP000003688844MINT-8269549 I2D: score=2 STRING: ENSP00000368884
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006555methionine metabolic process TAS7546290
    GO:0006595polyamine metabolic process TAS--
    GO:0006597spermine biosynthetic process IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    SMS 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

    SMS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SMS

    Browse Tocris compounds for SMS (SPSY)

    8 HMDB Compounds for SMS    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,3-Diaminopropane1,3-Diamino-n-propane (see all 8)109-76-26438490
    5'-Methylthioadenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-5-S-methyl-5-thio-beta-D-Ribofuranose (see all 14)2457-80-9--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    S-Adenosylmethioninamine(5-deoxy-5-adenosyl)(3-aminopropyl) methylsulfonium salt (see all 7)22365-13-5--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    1 DrugBank Compound for SMS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Spermine1, 4-Bis(aminopropyl)butanediamine (see all 5)71-44-3targetligand21318891 21318872 16651710 11040105 11160858 16515550 11950995 15459188 14508504

    7 Novoseek inferred chemical compound relationships for SMS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-butyl-1,3-diaminopropane 95.5 3 7945201 (1), 9716494 (1)
    spermine 91.3 89 19859664 (6), 18367445 (5), 2001229 (4), 16428313 (4) (see all 34)
    spermidine 87.3 28 2001229 (3), 19704464 (2), 7546290 (2), 18367445 (2) (see all 19)
    s-adenosylmethionine 79.3 4 2292587 (1), 1930914 (1), 12927050 (1), 19704464 (1)
    putrescine 73.3 2 2018367 (1), 19704464 (1)
    5-methylthioadenosine 72.1 5 14705926 (1), 18367445 (1)
    ornithine 68 4 2292587 (1), 1930914 (1), 12927050 (1), 9716494 (1)

    Search CenterWatch for drugs/clinical trials and news about SMS / SPSY

    (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 SMS gene (2 alternative transcripts): 
    NM_001258423.1  NM_004595.4  

    Unigene Cluster for SMS:

    Spermine synthase
    Hs.724874  [show with all ESTs]
    Unigene Representative Sequence: NM_004595
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000404933(uc011mjq.2 uc004dag.3) ENST00000379404 ENST00000478094
    ENST00000457085 ENST00000415881
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SMS:
    hsa-miR-148b hsa-miR-130a* hsa-miR-23c hsa-miR-152 hsa-miR-23b hsa-miR-3613-3p hsa-miR-23a hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidSMS 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AD001528.1 AK293455.1 AK313834.1 BC009898.2 BC085621.1 

    24 DOTS entries:

    DT.452317  DT.100815008  DT.121304774  DT.100815001  DT.91775944  DT.100815006  DT.100815002  DT.121304763 
    DT.100815003  DT.95244317  DT.102826723  DT.121304807  DT.121359480  DT.99943959  DT.121304745  DT.121304794 
    DT.121454492  DT.40255754  DT.75192659  DT.91775946  DT.95162650  DT.95162652  DT.95162662  DT.100732083 

    24/376 AceView cDNA sequences (see all 376):

    BM126684 CR591187 BE738690 CR606127 AA442901 CR619263 CA434807 AA995776 
    BM480264 AA527470 BI050534 AI718479 BU188342 BE000430 CF123379 AA315950 
    AA305272 CB131215 R76526 BQ774008 BX458554 AI379317 CR620002 CR617125 

    GeneLoc Exon Structure


    (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

    SMS expression in normal human tissues (normalized intensities)      SMS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATCAAAAT
    SMS Expression
    About this image


    SMS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             ovary ; follicle cells   
     
     Placenta (Extraembryonic Tissues)
             placenta ; trophoblastic cells   
     
     Brain (Nervous System)
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...

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

    SOURCE GeneReport for Unigene cluster: Hs.724874
        SABiosciences Custom PCR Arrays for SMS
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMS

    (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 animals and fungi.

    Orthologs for SMS gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sms5
    Gm146801
    spermine synthase5
    predicted gene 146801
    91.26(n)1
    96.17(a)1
      X (72.48 cM)5
    6718781  XM_001473434.31  XP_001473484.11 
     1574438555 
    chicken
    (Gallus gallus)
    Aves SMS1 spermine synthase 81.54(n)
    87.6(a)
      418602  NM_001030803.1  NP_001025974.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    89(a)
    81(a)
    many → 1
    many → 1
    GL344465.1(21-10413)
    3(124627697-124646398)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC808722 spermine synthase 75.31(n)   80872  AJ009864.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43001 , 3 spermidine synthase3
    CG43001
    43(a)3
    52.06(n)1
    44.41(a)1
      69A43
    394031  NM_168496.11  NP_729798.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SPE46
    Spermine synthase, required for the biosynthesis o...
    23(a)
    1 ↔ 1
    XII(432823-433725)


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

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

    SMS for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for SMS
    PGOHUM00000245042 PGOHUM00000235576 PGOHUM00000235659 PGOHUM00000243241 PGOHUM00000241274


    (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

    10/914 SNPs in SMS are shown (see all 914)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs70663031,2
    C,F,A,H--21871094(+) TGTTAT/CCCCAA 2 -- us2k18Minor allele frequency- C:0.08NS EA NA 1088
    rs1466885251,2
    --21871175(+) TTTTTC/TATTTT 2 -- us2k10--------
    rs70621381,2
    C,F,A,H--21871182(+) tttttC/Tgtttt 2 -- us2k1 tfbs34Minor allele frequency- T:0.04NS EA 418
    rs1887125411,2
    --21871222(+) TGGAGG/TGCAGT 2 -- us2k10--------
    rs1930425071,2
    --21871228(+) GCAGTA/GGCATG 2 -- us2k10--------
    rs1847162741,2
    --21871412(+) CAATCC/TGCCTA 2 -- us2k10--------
    rs70668931,2
    C,F,A--21871456(+) tgagcC/Tgccat 2 -- us2k12Minor allele frequency- T:0.00WA CSA 3
    rs59516701,2
    C,F,A,H--21871574(+) CAAGGC/TGAGGC 2 -- us2k117Minor allele frequency- T:0.42NS EA NA WA CSA 1985
    rs1879859981,2
    --21871726(+) AATTTC/GAAGAT 2 -- us2k10--------
    rs1914404041,2
    --21871774(+) TTGATA/GTGAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMS (21958691 - 22025798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SMS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv425472CNV Loss16902084
    nsv819785CNV Loss19587683
    nsv6832CNV Loss18451855


    Human Gene Mutation Database (HGMD): SMS

    Locus Specific Mutation Databases (LSDB): SMS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMS
    DNA2.0 Custom Variant and Variant Library Synthesis for SMS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300105   
    OMIM disorders: 309583  
    UniProtKB/Swiss-Prot: SPSY_HUMAN, P52788
  • X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]: Characterized by
    moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry.
    Transmission is X-linked recessive. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/23 diseases for SMS (see all 23):    About MalaCards
    snyder-robinson syndrome    smith magenis syndrome    carcinoid syndrome    vipoma
    mental retardation    acromegaly    hypotonia    mood disorder
    intellectual disability    mental retardation, x-linked    diarrhea    bipolar disorder
    systemic lupus erythematosus    lupus erythematosus    tuberculosis    prostate cancer
    rheumatoid arthritis    prostatitis    pneumonia    arthritis


    SMS for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SMS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 2 7850811 (2)
    tumors 0 8 11877759 (3), 7850811 (1)
    prostate cancer 0 1 11877759 (1)

    Human Genome Epidemiology (HuGE) Navigator: SMS (8 documents)

    Export disorders for SMS 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 SMS gene, integrated from 9 sources (see all 72):
    (articles sorted by number of sources associating them with SMS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. (PubMed id 14508504)1, 2, 3, 7 Cason A.L....Schwartz C.E. (2003)
    2. Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX. (PubMed id 9299240)1, 2, 3, 9 Grieff M....Mazzarella R. (1997)
    3. Molecular cloning of a cDNA encoding human spermine synthase. (PubMed id 7546290)1, 2, 3, 9 Korhonen V.-P....Jaenne J. (1995)
    4. Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism. (PubMed id 18367445)1, 2, 9 Wu H.... Plotnikov A.N. (2008)
    5. Spermine synthase deficiency resulting in X-linked in tellectual disability (Snyder-Robinson syndrome). (PubMed id 21318891)1, 7 Schwartz C.E....Pegg A.E. (2011)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    10. The impact of spermine synthase (SMS) mutations on br ain morphology. (PubMed id 19277733)1, 9 Kesler S.R....Reiss A.L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6611 HGNC: 11123 AceView: SMS Ensembl:ENSG00000102172 euGenes: HUgn6611
    ECgene: SMS Kegg: 6611 H-InvDB: SMS

    (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 SMS 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 SMS gene:
    Search GeneIP for patents involving SMS

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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