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FLASH GENE
Symbol SMS contributors: mct/npt - updated : 25-02-2009
HGNC name spermine synthase
HGNC id 11123
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 1–117 essential for activity and dimerization
  • C-terminal portion of the protein, AAs 173–366, 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)