Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.5.1.22 extracted from

  • Zhang, Z.; Norris, J.; Schwartz, C.; Alexov, E.
    In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase (2011), PLoS ONE, 6, e20373.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expression of wild-type and mutant enzymes in HEK cells Homo sapiens

Crystallization (Commentary)

Crystallization (Comment) Organism
analysis of X-ray crystal structure of the wild-type human SMS in complex with spermidine and 5-methylthioadenosine, PDB ID 3C6K, and folding free energy calculations, dimer structure analysis of wild-type and mutant enzymes, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
G56S naturally occuring missense mutation involved in Snyder-Robinson Syndrome, the mutation affects dimer and monomer stability and perturb the hydrogen bond network of the functionally important amino acids Homo sapiens
I150T naturally occuring missense mutation involved in Snyder-Robinson Syndrome, the mutation affects dimer and monomer stability and perturb the hydrogen bond network of the functionally important amino acids Homo sapiens
V132G naturally occuring missense mutation involved in Snyder-Robinson Syndrome, the mutation affects dimer and monomer stability and perturb the hydrogen bond network of the functionally important amino acids Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P52788
-
-

Synonyms

Synonyms Comment Organism
SMS
-
Homo sapiens

General Information

General Information Comment Organism
malfunction SMS single missense mutations cause the Snyder-Robinson Syndrome, SRS. Concerning mutability depending on structural micro-environment and involvement in the function and structural integrity of the SMS, the I150 site does not tolerate any mutation, while V132, despite its key position at the interface of SMS dimer, is quite mutable. The G56 site is still quite sensitive to charge residue replacement Homo sapiens
physiological function spermine synthase is a key enzyme controlling the concentration of spermidine and spermine in the cell Homo sapiens