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Literature summary for 2.3.1.50 extracted from

  • McCampbell, A.; Truong, D.; Broom, D.C.; Allchorne, A.; Gable, K.; Cutler, R.G.; Mattson, M.P.; Woolf, C.J.; Frosch, M.P.; Harmon, J.M.; Dunn, T.M.; Brown, R.H.
    Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy (2005), Hum. Mol. Genet., 14, 3507-3521.
    View publication on PubMed
Search for more literature for 2.3.1.50

Cloned(Commentary)

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

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

Inhibitors Comment Organism Structure
additional information recombinant expression of C133W mutant SPTLC1 in cell cultures dominantly inhibits the endogenous SPT activity Cricetulus griseus

Localization

Localization Comment Organism GeneOntology No. Textmining
microsome
-
 Cricetulus griseus
-
-

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Cricetulus griseus
-
-
-
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
serine palmitoyltransferase
-
 Cricetulus griseus
serine palmitoyltransferase
-
 Homo sapiens
SPT
-
 Cricetulus griseus
SPT
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Cricetulus griseus
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
8.3
-
 assay at Cricetulus griseus
8.3
-
 assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
pyridoxal 5'-phosphate
-
 Cricetulus griseus
pyridoxal 5'-phosphate
-
 Homo sapiens