Property Summary

NCBI Gene PubMed Count 27
Grant Count 235
R01 Count 146
Funding $48,779,213.6
PubMed Score 936.75
PubTator Score 53.51

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P52788 A6NHA7 A6NI34 B2R9M0 O00544 Q9UQS1 SPMSY
Symbols SRS
SpS
MRSR
SPMSY

Gene

SMS

PANTHER Protein Class (1)

PDB

3C6K   3C6M  

Gene RIF (12)

PMID Text
26761001 Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein.
23696453 Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome.
23468611 Studied human spermine synthase activity by engineered mutations.
23408511 This observation is used to demonstrate, computationally and experimentally, that a particular condition, Snyder-Robinson syndrome caused by the G56S spermine synthase mutation, might be ameliorated by small molecule binding.
22258329 spermine synthase activity and the resulting elevation of the spermine:spermidine ratio does not alter susceptibility to tumor development initiated by c-Ha-Ras mutation or Apc loss
21647366 the mutability of spermine synthase
21318891 Mutations in the spermine synthase have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome.
21152090 each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1).
20059804 the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers.
19277733 Data suggest that disruption of spermine synthase function may negatively affect regional brain volumes that subserve cognitive and motor abilities.
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AA Sequence

MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVL      1 - 70
LDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVV     71 - 140
YDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVK    141 - 210
LKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAV    211 - 280
PISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPS    281 - 350
YLELWVFYTVWKKAKP                                                          351 - 366
//

Text Mined References (33)

PMID Year Title
26761001 2016 Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
23897707 2013 Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
23696453 2013 A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23468611 2013 Enhancing human spermine synthase activity by engineered mutations.
23408511 A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
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