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SMS Gene

protein-coding   GIFtS: 62
GCID: GC0XP021958

Spermine Synthase

(Previous name: Snyder-Robinson X-linked mental retardation syndrome)
(Previous symbol: SRS)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for SMS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: 

  • Ubiquitination2 at Lys151
  • Modification sites at PhosphoSitePlus

  • See SMS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000385746   ENSP00000368714   ENSP00000407366   ENSP00000388906  
    Reactome Protein details: P52788

    SMS Human Recombinant Protein Products:

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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

    SMS Antibody Products:

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    SMS Assay Products:

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    Cloud-Clone Corp. ELISAs for SMS
    Cloud-Clone Corp. CLIAs for SMS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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
    Similarity: Contains 1 PABS (polyamine biosynthesis) domain


    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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-adenosyl 3-(methylthio)propylamine + 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:    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 

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

    SMS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target SMS:
    hsa-mir-7-1-3p (MIRT038683), hsa-mir-26b-5p (MIRT030218), hsa-mir-324-3p (MIRT042888), hsa-mir-149-5p (MIRT045576)

    Block miRNA regulation of human, mouse, rat SMS using miScript Target Protectors
    8 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for SMS
    Predesigned siRNA for gene silencing in human, mouse, rat SMS

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SMS

    Clone
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    OriGene clones in human, mouse for SMS (see all 6)
    OriGene ORF clones in mouse, rat for SMS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMS (NM_004595)
    Sino Biological Human cDNA Clone for SMS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SMS
    Browse ESI BIO Cell Lines and PureStem Progenitors for SMS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    cytoskeleton1
    extracellular1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    SMS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SMS About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    spermine biosynthesis0.00
    Metabolism of polyamines0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Arginine and proline metabolism
    Arginine and proline metabolism
    Urea cycle and metabolism of amino groups0.00
    4Glutathione metabolism
    Glutathione metabolism0.65
    5Sulfur amino acid metabolism
    Cysteine and methionine metabolism0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for SMS
        Metabolism of polyamines


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMS
    Interactions:

        Search GeneGlobe Interaction Network for SMS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for SMS (P527882, 3 ENSP000003857464) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    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:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for SMS
      Browse compounds at ApexBio 

    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)



    SMS for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMS gene (2 alternative transcripts): 
    NM_001258423.1  NM_004595.4  

    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 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat SMS
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMS
    Primer
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    OriGene qPCR primer pairs and template standards for SMS
    OriGene qSTAR qPCR primer pairs in human, mouse for SMS
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat SMS
      QuantiTect SYBR Green Assays in human, mouse, rat SMS
      QuantiFast Probe-based Assays in human, mouse, rat SMS

    Selected AceView cDNA sequences (see all 376):

    NM_004595 BF969418 BQ894401 AI686676 AA582619 BG250969 CB243036 AI701286 
    AI597924 AD001528 CR606127 AI685476 AA995776 BF969207 CA440739 H01543 
    BQ001907 BM968750 CR619263 BQ014947 BI050534 CD515383 AW003713 AI695752 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMS expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Brain (Nervous System)
             N2/LSB/S/F8-induced cells
     
     Adrenal Gland (Endocrine System)
    SMS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMS Protein Expression
        Custom PCR Arrays for SMS
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SMS
    OriGene qSTAR qPCR primer pairs in human, mouse for SMS
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat SMS
    QuantiTect SYBR Green Assays in human, mouse, rat SMS
    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SMS gene from Selected species (see all 16)    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_001473434.41  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
    90(a)
    82(a)
    many → 1
    many → 1
    GL344465.1(21-10413)
    3(124627697-124646398)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sms1 spermine synthase 75.6(n)
    78.73(a)
      100497747  NM_001258422.1  NP_001245351.1 
    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
    51.98(n)1
    44.07(a)1
      69A43
    394031  NM_168496.21  NP_729798.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SPE46
    Spermine synthase, required for the biosynthesis o...
    18(a)
    1 ↔ 1
    XII(432823-433725) YLR146C


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMS (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

    Site Specific Mutation Identification with 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

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    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

  • Selected diseases for SMS (see all 28):    
    About MalaCards
    snyder-robinson syndrome    smith magenis syndrome    carcinoid syndrome    vipoma
    mental retardation    intellectual disability    acromegaly    mental retardation, x-linked
    hypotonia    mood disorder    diarrhea    osteoporosis
    bipolar disorder    pneumonia    systemic lupus erythematosus    lupus erythematosus
    prostate cancer    prostatitis    rheumatoid arthritis    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)
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    PubMed articles for SMS gene, integrated from 10 sources (see all 75):
    (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. (Eur. J. Hum. Genet. 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. (Genomics 1997)
    3. Molecular cloning of a cDNA encoding human spermine synthase. (PubMed id 7546290)1, 2, 3, 9 Korhonen V.-P....Jaenne J. (DNA Cell Biol. 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. (J. Biol. Chem. 2008)
    5. Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). (PubMed id 21318891)1, 7 Schwartz C.E....Pegg A.E. (Methods Mol. Biol. 2011)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 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. (Genome Res. 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. (Nat. Biotechnol. 2003)
    10. The impact of spermine synthase (SMS) mutations on brain morphology. (PubMed id 19277733)1, 9 Kesler S.R....Reiss A.L. (Neurogenetics 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6611 HGNC: 11123 AceView: SMS Ensembl:ENSG00000102172 euGenes: HUgn6611
    ECgene: SMS Kegg: 6611 H-InvDB: SMS

    (According to HUGE)
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      --

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

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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