Cloned (Comment) | Organism |
---|---|
expression of HA-tagged C133W mutant SPTLC1 in CHO-K1 cells and in transgenic mice, the expression dominantly inhibits SPT activity | Cricetulus griseus |
Protein Variants | Comment | Organism |
---|---|---|
C133W | site-directed mutagenesis, mutation of subunit SPTLC1, construction of transgenic mouse lines that ubiquitously overexpress either wild-type SPTLC1WT or mutant SPTLC1C133W in brain and liver microsomes, SPTLC1C133W mice develop age-dependent weight loss and mild sensory and motor impairments, fed SPTLC1C133W mice lose large myelinated axons in the ventral root of the spinal cord and demonstrate myelin thinning, there is also a loss of large myelinated axons in the dorsal roots, although the unmyelinated fibers are preserved, in the dorsal root ganglia, IB4 staining is diminished, whereas expression of the injury-induced transcription factor ATF3 is increased, phenotype, detailed overview | Cricetulus griseus |
additional information | mutations in the enzyme subunit SPTLC1 cause hereditary sensory and autonomic neuropathy type I, HSAN1, an adult onset, autosomal dominant neuropathy, HSAN1 patients have reduced SPT activity | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
additional information | recombinant expression of C133W mutant SPTLC1 in cell cultures dominantly inhibits the endogenous SPT activity | Cricetulus griseus |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
microsome | - |
Cricetulus griseus | - |
- |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | mutations in the enzyme subunit SPTLC1 cause hereditary sensory and autonomic neuropathy type I, HSAN1, an adult onset, autosomal dominant neuropathy, HSAN1 patients have reduced SPT activity, link between mutant SPT and neuronal dysfunction | ? | - |
? | |
palmitoyl-CoA + L-serine | Cricetulus griseus | the enzyme catalyses the rate limiting step for the de novo synthesis of sphingolipids | CoA + 3-dehydro-D-sphinganine + CO2 | - |
? | |
palmitoyl-CoA + L-serine | Homo sapiens | the enzyme catalyses the rate limiting step for the de novo synthesis of sphingolipids | CoA + 3-dehydro-D-sphinganine + CO2 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Cricetulus griseus | - |
- |
- |
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | mutations in the enzyme subunit SPTLC1 cause hereditary sensory and autonomic neuropathy type I, HSAN1, an adult onset, autosomal dominant neuropathy, HSAN1 patients have reduced SPT activity, link between mutant SPT and neuronal dysfunction | Homo sapiens | ? | - |
? | |
palmitoyl-CoA + L-serine | - |
Cricetulus griseus | CoA + 3-dehydro-D-sphinganine + CO2 | - |
? | |
palmitoyl-CoA + L-serine | - |
Homo sapiens | CoA + 3-dehydro-D-sphinganine + CO2 | - |
? | |
palmitoyl-CoA + L-serine | the enzyme catalyses the rate limiting step for the de novo synthesis of sphingolipids | Cricetulus griseus | CoA + 3-dehydro-D-sphinganine + CO2 | - |
? | |
palmitoyl-CoA + L-serine | the enzyme catalyses the rate limiting step for the de novo synthesis of sphingolipids | Homo sapiens | CoA + 3-dehydro-D-sphinganine + CO2 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
serine palmitoyltransferase | - |
Cricetulus griseus |
serine palmitoyltransferase | - |
Homo sapiens |
SPT | - |
Cricetulus griseus |
SPT | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Cricetulus griseus |
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
8.3 | - |
assay at | Cricetulus griseus |
8.3 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
pyridoxal 5'-phosphate | - |
Cricetulus griseus | |
pyridoxal 5'-phosphate | - |
Homo sapiens |