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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
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)