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

SMS Gene

protein-coding   GIFtS: 65
GCID: GC0XP021958

spermine synthase

(Previous name: Snyder-Robinson X-linked mental retardation syndrome )
(Previous symbol: SRS)
 Explore 24 diseases affiliated with
SMS via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SMS    

Aliases
for SMS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Spermine Synthase1 2     SpS1 2
SPMSY1 2 3     Spermidine Aminopropyltransferase2 3
MRSR1 2 5     Snyder-Robinson X-Linked Mental Retardation Syndrome1
SRS1 2 5     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


Summaries
for SMS gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMS:
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)

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

Gene Wiki entry for SMS


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
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 plasmid: SMS 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

Proteins
for SMS gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P52788

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

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: SMS
    OriGene Protein Over-expression Lysate: SMS
    OriGene Custom Protein Services for SMS 
    GenScript Custom Purified and Recombinant Proteins Services for SMS
    Novus Biologicals SMS Proteins
    Novus Biologicals SMS Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SMS
    Uscn 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



    SMS Antibody Products: 
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    Abcam antibodies for SMS 
    Uscn Antibodies for SMS
    ThermoFisher Antibody for SMS

    Assay Products for SMS: 
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    Uscn ELISAs and CLIAs for SMS

    Protein Domains /
    Families
    for SMS gene

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

    2 InterPro domains/families:
     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


    Function
    for SMS gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: SMS
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMS
    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 plasmid: SMS 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMS (see all 7)
    OriGene shRNA RFP: SMS
    OriGene siRNA: SMS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMS

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SMS

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMS (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMS 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SMS
    Search LifeMap BioReagents cell lines for SMS

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

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004766spermidine synthase activity TAS9299240
    GO:0016768spermine synthase activity IEA--


    SMS for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SMS:
     Increased homologous recombina 

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

    SMS for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SMS gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Arginine and proline metabolism
    		Arginine and proline metabolism1.00
    		Urea cycle and metabolism of amino groups0.36
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4spermine biosynthesis
    		spermine biosynthesis1.00
    5beta-Alanine metabolism
    		beta-Alanine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for SMS gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMS for compounds           About GeneDecksing

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

    Compounds for SMS available from Tocris Bioscience    About this table
    CompoundAction CAS #
    N1,N12-Diethylspermine tetrahydrochloride Polyamine synthase inhibitor[113812-15-0]

    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 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 

    Transcripts
    for SMS gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SMS gene (2 alternative transcripts): 
    NM_001258423.1  NM_004595.4  

    Unigene Cluster for SMS:

    Spermine synthase
    Hs.744031  [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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMS
    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 plasmid: SMS 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMS (see all 7)
    OriGene shRNA RFP: SMS
    OriGene siRNA: SMS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMS
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMS

    Additional cDNA 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.121304745  DT.121304794  DT.121454492 
    DT.40255754  DT.75192659  DT.91775946  DT.95162650  DT.95162652  DT.95162662  DT.99943959  DT.100732083 

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

    CF123379 BQ669663 NM_004595 AA305272 BQ774008 AA582619 BQ929247 BF222062 
    BM968750 BM969060 CR598032 AW237179 AI695752 AA315950 AI686676 BG171477 
    AI745415 CB243036 AW302217 H01543 CR606127 CR624838 CA434807 BX461337 

    GeneLoc Exon Structure


    Expression
    for SMS gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACATCAAAAT

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

    SMS expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.744031
        SABiosciences Custom PCR Arrays for SMS
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMS

    Orthologs
    for SMS gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SMS gene from 8/27 species (see all 27)    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 --
    --
    		 --
    		 87(a)
    77(a)
    		 many → 1
    many → 1
    		 GL344465.1(554-9941)
    3(124627697-124641698)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ACL56
    		 Thermospermine synthase ACAULIS5
    		 16(a)
    		 possible ortholog
    		 5(6588958-6591363)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 spermidine synthase, putative, expressed
    		 17(a)
    		 possible ortholog
    		 2(7772398-7776160)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria speE6
    		 spermidine synthase (putrescine aminopropyltransfe...
    		 19(a)
    		 possible ortholog
    		 Chromosome(135598-136464)


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

    Paralogs
    for SMS gene

    (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


    Genomic Variants
    for SMS gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/749 NCBI SNPs in SMS are shown (see all 749)     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,--21956828(+) TGTTAT/CCCCAA 2 -- us2k18Minor allele frequency- C:0.08NS EA NA 1088
    rs1466885251,2
    		--21956909(+) TTTTTC/TATTTT 2 -- us2k10--------
    rs70621381,2
    		C,F,A,H,--21956916(+) tttttC/Tgtttt 2 -- us2k1 tfbs34Minor allele frequency- T:0.04NS EA 418
    rs1887125411,2
    		--21956956(+) TGGAGG/TGCAGT 2 -- us2k10--------
    rs1930425071,2
    		--21956962(+) GCAGTA/GGCATG 2 -- us2k10--------
    rs1847162741,2
    		--21957146(+) CAATCC/TGCCTA 2 -- us2k10--------
    rs70668931,2
    		C,A,--21957190(+) tgagcC/Tgccat 2 -- us2k12Minor allele frequency- T:0.00WA CSA 3
    rs59516701,2
    		C,F,A,H,--21957308(+) CAAGGC/TGAGGC 2 -- us2k117Minor allele frequency- T:0.42NS EA NA WA CSA 1985
    rs1879859981,2
    		--21957460(+) AATTTC/GAAGAT 2 -- us2k10--------
    rs1914404041,2
    		--21957508(+) TTGATA/GTGAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMS (21958691 - 22025798 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SMS
         2 CNVs: 59546 6735
    Human Gene Mutation Database (HGMD): SMS

    Locus Specific Mutation Databases (LSDB): SMS

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMS
    DNA2.0 Custom Variant and Variant Library Synthesis for SMS

    Disorders / Diseases
    for SMS gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SMS for disorders           About GeneDecksing

    OMIM gene information: 300105   
    OMIM disorders: 309583  
    UniProtKB/Swiss-Prot: SPSY_HUMAN, P52788
  • Defects in SMS are the cause of 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

    20/24 diseases for SMS (see all 24):    About MalaCards
    mental retardation syndrome    mental retardation, x-linked    snyder-robinson syndrome    systemic lupus erythematosus
    vipoma    intellectual disability    lupus erythematosus    mood disorder
    carcinoid syndrome    bipolar disorder    acromegaly    rheumatoid arthritis
    hypotonia    diarrhea    prostate cancer    breast cancer
    osteoporosis    twinning    arthritis    prostatitis

    3 Novoseek 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

    Publications
    for SMS gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMS gene, integrated from 9 sources (see all 66):
    (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)

    External Searches for SMS gene

    (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)

    Genome Databases showing SMS gene

    (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

    Other Databases showing SMS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SMS gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMS Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SMS gene

    (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



    Products
    for SMS gene

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    About This Section

     
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     Regulatory tfbs in SMS promoter
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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