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MGP002928

UniProt Annotations

Entry Information
Gene Namespermine synthase
Protein EntrySPSY_HUMAN
UniProt IDP52788
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P52788-1; Sequence=Displayed; Name=2; IsoId=P52788-2; Sequence=VSP_034406; Note=Gene prediction confirmed by EST data.;
Catalytic ActivityS-adenosyl 3-(methylthio)propylamine + spermidine = S-methyl-5'-thioadenosine + spermine.
DiseaseX-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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainComposed 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.
FunctionCatalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
PathwayAmine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1.
SimilarityBelongs to the spermidine/spermine synthase family. {ECO:0000305}.
SimilarityContains 1 PABS (polyamine biosynthesis) domain. {ECO:0000255|PROSITE-ProRule:PRU00354}.
SubunitHomodimer. 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. {ECO:0000269|PubMed:18367445}.
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