Cloned (Comment) | Organism |
---|---|
expression of wild-type and mutant enzymes in HEK cells | Homo sapiens |
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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P52788 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
SMS | - |
Homo sapiens |
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 |