Property Summary

NCBI Gene PubMed Count 27
PubMed Score 936.75
PubTator Score 53.51

Knowledge Summary

Patent

No data available

Expression

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.
19206178 A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome.
18550699 Study reports the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome.

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.
22258329 2012 Spermine synthase overexpression in vivo does not increase susceptibility to DMBA/TPA skin carcinogenesis or Min-Apc intestinal tumorigenesis.
21647366 2011 In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.
21318891 2011 Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).
21269460 2011 Initial characterization of the human central proteome.
21152090 2010 Association of polyaminergic loci with anxiety, mood disorders, and attempted suicide.
20059804 2010 Genetic and epigenetic influences on expression of spermine synthase and spermine oxidase in suicide completers.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19277733 2009 The impact of spermine synthase (SMS) mutations on brain morphology.
19206178 2009 A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
18550699 2008 New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
18367445 2008 Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism.
15772651 2005 The DNA sequence of the human X chromosome.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14508504 2003 X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9847074 1998 Toward a complete human genome sequence.
9299240 1997 Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.
8826448 1996 X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.
7546290 1995 Molecular cloning of a cDNA encoding human spermine synthase.
5823961 1969 Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family.