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FLASH GENE
Symbol SMS contributors: mct/npt - updated : 25-02-2009
HGNC name spermine synthase
HGNC id 11123
Corresponding disease
SROS mental retardation, Snyder Robinson type
Location Xp22.11      Physical location : 21.958.841 - 22.012.954
Synonym name spermidine aminopropyltransferase
Synonym symbol(s) SPS, SPMSY, SRS, MRSR, SPMS
EC.number 2.5.1.22
DNA
TYPE functioning gene
STRUCTURE 54.11 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - DXS7101 - DXS8251 - SMS SMS - DXS7924 - DXS8256 - cen
Physical map
LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase SH3KBP1 Xp22.3-p11.3 SH3-domain kinase binding protein 1 LOC256643 Xp22.13 hypothetical protein LOC256643 FLJ14503  hypothetical protein FLJ14503 EIF1A Xp22.1 eukaryotic translation initiation factor 1A RPS6KA3 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 CNK2 Xp22.13 ribosomal protein S6 kinase, 90kDa, polypeptide 3 FLJ34960 Xp22.13 hypothetical protein FLJ34960 SMPX Xp22.1 small muscle protein, X-linked MBTPS2 Xp22.1-p22.2 membrane-bound transcription factor protease, site 2 SMS Xp22.1 spermine synthase PHEX Xp22.2-p22.1 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) FLJ25735 Xp22.13 hypothetical protein FLJ25735 LOC389841 X LOC389841 DDX53 Xp22 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 MGC45134 Xp22.13 hypothetical protein MGC45134 LOC392432 X similar to hypothetical protein MGC35083 FLJ30296 Xp22.13 hypothetical protein FLJ30296 PRDX4 Xp22.12-p21.3 peroxiredoxin 4 ACATE2 Xp22.13 likely ortholog of mouse acyl-Coenzyme A thioesterase 2, mitochondrial SAT Xp22.1 spermidine/spermine N1-acetyltransferase MGC4825 Xp22.13 hypothetical protein MGC4825 LOC317771 Xp22.1 ribosomal protein L9 pseudogene FLJ25444 Xp22.13 hypothetical protein FLJ25444 KIAA1677 Xp22.1-p21 KIAA1677 EIF2S3 Xp22.2-p22.1 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa ZFX Xp22.13-p22.12 zinc finger protein, X-linked LOC347438 Xp22.13 similar to P38IP protein LOC170067 Xp22.13 similar to transcription factor (p38 interacting protein) LOC286513 Xp22.13 similar to 40S ribosomal protein S26 PDK3 Xp22,12 pyruvate dehydrogenase kinase, isoenzyme 3 PCYT1B Xp22.12 phosphate cytidylyltransferase 1, choline, beta isoform POLA Xp22.12 polymerase (DNA directed), alpha ARX Xp22.12 aristaless related homeobox LOC139957 Xp22.12 similar to platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa; platelet-activating factor acetylhydrolase, isoform Ib, beta subunit (30kD); Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit LOC220895 Xp22.12 similar to methyltransferase-like protein 1 isoform a; D1075-like gene product LOC389842 X similar to Ran-specific GTPase-activating protein (Ran binding protein 1) (RanBP1)
regionally located 38kb telomeric to PEX
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1717 41.14 366 - Ross (2005)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain AAs 1117 essential for activity and dimerization
  • C-terminal portion of the protein, AAs 173366, with a active site
  • HOMOLOGY
    interspecies homolog to murine Sms
    Homologene
    FAMILY
  • polyamine family
  • spermidine/spermine synthase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • catalyses the production of the polyamine spermine from the shorter chain length polyamine, spermidine (de Alencastro 2008)
  • polyamine blocking the inwardly rectifying K+ channel present in the inner ear
  • playing a role in brain development and cognitive function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    methionine
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SROS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Male gyro (Gy) mice, which have an X chromosomal deletion inactivating the SmS and Phex genes, were found to be profoundly hearing impaired, and showed a striking toxic response to treatment with the ornithine decarboxylase inhibitor alpha-difluoromethylornithine (DFMO) (Wang 2009)