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Description for Protein SPTLC2

serine palmitoyltransferase, long chain base subunit 2
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.3.1.50
KEGG - Orthology:
K00654
KEGG - Pathway(s):
hsa00600; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
SPT2; LCB2; EC 2.3.1.50; Serine palmitoyl CoA transferase 2; Long chain base biosynthesis protein 2; Serine palmitoyltransferase, long chain base subunit 2
Approved Symbol:
SPTLC2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • L-Serine(db);
  • Pyridoxal Phosphate(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05755 Entrez Gene ID: 9517 OMIM ID: 605713 Swissprot Accession: O15270;