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Literature summary for 2.3.1.50 extracted from

  • Ernst, D.; Murphy, S.M.; Sathiyanadan, K.; Wei, Y.; Othman, A.; Laura, M.; Liu, Y.T.; Penno, A.; Blake, J.; Donaghy, M.; Houlden, H.; Reilly, M.M.; Hornemann, T.
    Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity (2015), Neuromolecular Med., 17, 47-57.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.3.1.50

Cloned(Commentary)

Cloned (Comment) Organism
recombinant stable expression of mutant and wild-type SPTLC2 subunit in HEK293 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
S384A a subunit SPTLC2 phosphorylation site mutant, the mutation has no effect n enzyme activity Homo sapiens
S384D a subunit SPTLC2 phosphorylation site mutant, the mutation is associated with increased 1-deoxysphingolipids formation Homo sapiens
S384E a subunit SPTLC2 phosphorylation site mutant, the mutation is not associated with increased 1-deoxysphingolipids formation Homo sapiens
S384F a subunit SPTLC2 phosphorylation site mutant, naturally occuring in hereditary sensory and autonomic neuropathy type I, HSAN1, families. Affected patients showed elevated plasma 1-deoxysphingolipid levels and expression of the S384F mutant in HEK-293 cells increased 1-deoxysphingolipid formation Homo sapiens
Y387F a subunit SPTLC2 phosphorylation site mutant, the mutation has no effect n enzyme activity Homo sapiens
Y387F/S384A a subunit SPTLC2 phosphorylation sites mutant, the mutation has no effect n enzyme activity Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens 1-deoxysphingolipids are atypical sphingolipids that are formed by the enzyme serine palmitoyltransferase due to a promiscuous use of L-alanine over its canonical substrate L-serine. Wild-type SPT forms 1-deoxysphingolipids under certain conditions, and elevated levels are found in individuals with the metabolic syndrome and diabetes ?
-
 ?
palmitoyl-CoA + L-alanine Homo sapiens wild-type enzyme can metabolize L-alanine under certain conditions CoA + (2S)-2-aminooctadecan-3-one + CO2
-
 ?
palmitoyl-CoA + L-serine Homo sapiens
-
 CoA + 3-dehydro-D-sphinganine + CO2
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens O15270 subunit SPTLC2; British families
-

Posttranslational Modification

Posttranslational Modification Comment Organism
phosphoprotein the enzyme is phosphorylated at S284 regulating its substrate specificity Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information 1-deoxysphingolipids are atypical sphingolipids that are formed by the enzyme serine palmitoyltransferase due to a promiscuous use of L-alanine over its canonical substrate L-serine. Wild-type SPT forms 1-deoxysphingolipids under certain conditions, and elevated levels are found in individuals with the metabolic syndrome and diabetes Homo sapiens ?
-
 ?
palmitoyl-CoA + L-alanine wild-type enzyme can metabolize L-alanine under certain conditions Homo sapiens CoA + (2S)-2-aminooctadecan-3-one + CO2
-
 ?
palmitoyl-CoA + L-serine
-
 Homo sapiens CoA + 3-dehydro-D-sphinganine + CO2
-
 ?

Synonyms

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

Temperature Optimum [°C]

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

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
8
-
 assay at Homo sapiens

General Information

General Information Comment Organism
malfunction the S384D but not the S384E mutation is associated with increased 1-deoxysphingolipids formation Homo sapiens
metabolism several mutations in SPT are associated with the hereditary sensory and autonomic neuropathy type I, HSAN1. Wild-type SPT forms 1-deoxysphingolipids under certain conditions, and elevated levels are found in individuals with the metabolic syndrome and diabetes Homo sapiens
physiological function specificity of wild-type SPT might by dynamically regulated by a phosphorylation at position S384 Homo sapiens