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Aliases for SMS Gene

Aliases for SMS Gene

  • Spermine Synthase 2 3
  • Spermidine Aminopropyltransferase 3 4
  • SPMSY 3 4
  • MRSR 3 6
  • SRS 3 6
  • Snyder-Robinson X-Linked Mental Retardation Syndrome 2
  • EC 4
  • SPS 3

External Ids for SMS Gene

Previous HGNC Symbols for SMS Gene

  • SRS

Previous GeneCards Identifiers for SMS Gene

  • GC0XP020700
  • GC0XP020548
  • GC0XP021160
  • GC0XP021320
  • GC0XP021718
  • GC0XP021868
  • GC0XP019699

Summaries for SMS Gene

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 mental retardation, x-linked, snyder-robinson type and snyder-robinson syndrome. Among its related pathways are Metabolism and Arginine and proline metabolism. GO annotations related to this gene include spermidine synthase activity and spermine synthase activity.

UniProtKB/Swiss-Prot for SMS Gene

  • Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM)

Gene Wiki entry for SMS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMS Gene

Genomics for SMS Gene

Regulatory Elements for SMS Gene

Genomic Location for SMS Gene

21,940,573 bp from pter
22,007,213 bp from pter
66,641 bases
Plus strand

Genomic View for SMS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMS Gene

Proteins for SMS Gene

  • Protein details for SMS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Spermine synthase
    Protein Accession:
    Secondary Accessions:
    • A6NHA7
    • A6NI34
    • B2R9M0
    • O00544
    • Q9UQS1

    Protein attributes for SMS Gene

    366 amino acids
    Molecular mass:
    41268 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SMS Gene

    Alternative splice isoforms for SMS Gene


neXtProt entry for SMS Gene

Proteomics data for SMS Gene at MOPED

Post-translational modifications for SMS Gene

  • Ubiquitination at Lys151
  • Modification sites at PhosphoSitePlus

Other Protein References for SMS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SMS Gene

Domains for SMS Gene

Protein Domains for SMS Gene

Suggested Antigen Peptide Sequences for SMS Gene

Graphical View of Domain Structure for InterPro Entry



  • P52788
  • 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
  • Contains 1 PABS (polyamine biosynthesis) domain.
  • Belongs to the spermidine/spermine synthase family.
genes like me logo Genes that share domains with SMS: view

No data available for Gene Families for SMS Gene

Function for SMS Gene

Molecular function for SMS Gene

GENATLAS Biochemistry:
spermine synthase,ubiquitously expressed,polyamine blocking the inwardly rectifying K+ channel present in the inner ear,38kb telomeric to PEX,ubiquitous
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl 3-(methylthio)propylamine + spermidine = S-methyl-5-thioadenosine + spermine
UniProtKB/Swiss-Prot Function:
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM)

Enzyme Numbers (IUBMB) for SMS Gene

Gene Ontology (GO) - Molecular Function for SMS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004766 spermidine synthase activity --
GO:0016768 spermine synthase activity IEA --
genes like me logo Genes that share ontologies with SMS: view
genes like me logo Genes that share phenotypes with SMS: view

Animal Model Products

miRNA for SMS Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SMS Gene

Localization for SMS Gene

Subcellular locations from

Jensen Localization Image for SMS Gene COMPARTMENTS Subcellular localization image for SMS gene
Compartment Confidence
cytosol 4
nucleus 3
cytoskeleton 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SMS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SMS Gene

Pathways for SMS Gene

genes like me logo Genes that share pathways with SMS: view

UniProtKB/Swiss-Prot P52788-SPSY_HUMAN

  • Pathway: Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1

Gene Ontology (GO) - Biological Process for SMS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006555 methionine metabolic process TAS 7546290
GO:0006595 polyamine metabolic process TAS --
GO:0006597 spermine biosynthetic process IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SMS: view

Compounds for SMS Gene

(8) HMDB Compounds for SMS Gene

Compound Synonyms Cas Number PubMed IDs
  • 1,3-Diamino-n-propane
  • 1-(6-amino-9H-purin-9-yl)-1-deoxy-5-S-methyl-5-thio-beta-D-Ribofuranose
  • N'-Acetylspermine
  • N-(3-aminopropyl)-1,3-Propanediamine
  • 1,4-Butanediamine

(1) Drugbank Compounds for SMS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • 1, 4-Bis(aminopropyl)butanediamine
71-44-3 target ligand

(7) Novoseek inferred chemical compound relationships for SMS Gene

Compound -log(P) Hits PubMed IDs
n-butyl-1,3-diaminopropane 95.5 2
spermine 91.3 67
spermidine 87.3 24
s-adenosylmethionine 79.3 4
putrescine 73.3 2
genes like me logo Genes that share compounds with SMS: view

Transcripts for SMS Gene

Unigene Clusters for SMS Gene

Spermine synthase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMS

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMS Gene

No ASD Table

Relevant External Links for SMS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMS Gene

mRNA expression in normal human tissues for SMS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SMS Gene

This gene is overexpressed in Testis (8.9), Ovary (7.4), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMS Gene

SOURCE GeneReport for Unigene cluster for SMS Gene Hs.724874

genes like me logo Genes that share expressions with SMS: view

Expression partners for SMS Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMS Gene

Orthologs for SMS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMS Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SMS 35
  • 93.7 (n)
  • 98.08 (a)
SMS 36
  • 98 (a)
(Canis familiaris)
Mammalia SMS 35
  • 93.88 (n)
  • 97.26 (a)
SMS 36
  • 92 (a)
(Mus musculus)
Mammalia Gm14680 35
  • 91.26 (n)
  • 96.17 (a)
Sms 16
Sms 36
  • 96 (a)
(Pan troglodytes)
Mammalia SMS 35
  • 99.57 (n)
  • 99.68 (a)
(Rattus norvegicus)
Mammalia Sms 35
  • 91.8 (n)
  • 96.72 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
-- 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia SMS 36
  • 79 (a)
(Gallus gallus)
Aves SMS 35
  • 81.54 (n)
  • 87.6 (a)
SMS 36
  • 86 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
-- 36
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sms 35
  • 75.6 (n)
  • 78.73 (a)
(Danio rerio)
Actinopterygii LOC80872 35
sms 35
  • 68.8 (n)
  • 70.75 (a)
sms 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4300 37
  • 43 (a)
CG4300 35
  • 51.98 (n)
  • 44.07 (a)
CG4300 36
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005325 35
  • 53.25 (n)
  • 44.58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPE4 36
  • 18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4694 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
-- 36
  • 45 (a)
Species with no ortholog for SMS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMS Gene

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

Paralogs for SMS Gene

genes like me logo Genes that share paralogs with SMS: view

No data available for Paralogs for SMS Gene

Variants for SMS Gene

Sequence variations from dbSNP and Humsavar for SMS Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs43137 -- 21,974,348(+) TCTGT(A/T)AGAGC intron-variant
rs43138 -- 21,974,364(+) GGCTC(G/T)TTTGG intron-variant
rs43139 -- 21,974,470(+) GGACA(A/T)TTCAT intron-variant
rs732945 -- 21,968,289(+) GGTTG(C/G)GGGGA intron-variant
rs732946 -- 21,967,846(+) GGGCT(C/T)CTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMS Gene

Variant ID Type Subtype PubMed ID
nsv6832 CNV Loss 18451855
nsv425472 CNV Loss 16902084
nsv819785 CNV Loss 19587683

Relevant External Links for SMS Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMS Gene

Disorders for SMS Gene

(1) OMIM Diseases for SMS Gene (300105)


  • 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. {ECO:0000269 PubMed:14508504, ECO:0000269 PubMed:22612257}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for SMS Gene

Disease -log(P) Hits PubMed IDs
breast cancer 0 2
tumors 0 4
prostate cancer 0 1

Relevant External Links for SMS

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SMS: view

No data available for University of Copenhagen DISEASES and Genatlas for SMS Gene

Publications for SMS Gene

  1. Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX. (PMID: 9299240) Grieff M. … Mazzarella R. (Genomics 1997) 2 3 4 23
  2. Molecular cloning of a cDNA encoding human spermine synthase. (PMID: 7546290) Korhonen V.-P. … Jaenne J. (DNA Cell Biol. 1995) 2 3 4 23
  3. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. (PMID: 14508504) Cason A.L. … Schwartz C.E. (Eur. J. Hum. Genet. 2003) 2 3 4 25
  4. Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism. (PMID: 18367445) Wu H. … Plotnikov A.N. (J. Biol. Chem. 2008) 3 4 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SMS Gene

Sources for SMS Gene

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