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Description for Protein SPTLC1

serine palmitoyltransferase, long chain base subunit 1
7 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • 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:
    SPT1; LCB1; HSN1; EC 2.3.1.50; Serine palmitoyltransferase subunit I; Long chain base biosynthesis protein 1; Serine palmitoyl CoA transferase 1; Serine palmitoyltransferase subunit 1 isoform b; Serine palmitoyltransferase subunit 1 isoform a
    Approved Symbol:
    SPTLC1
    (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:

  • Neuropathy, hereditary sensory, type I(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 05754 Entrez Gene ID: 10558 OMIM ID: 605712 Swissprot Accession: O15269; Q96IX6;