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FLASH GENE
Symbol SPTLC1 contributors: mct - updated : 30-08-2023
HGNC name serine palmitoyltransferase, long chain base subunit 1
HGNC id 11277
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • extracellular N and C termini
  • two transmembrane segments in the N terminal region,
  • several myristoylation sites
  • a putative glycosylation site
    • HOMOLOGY
    Homologene
    FAMILY
  • class-II pyridoxal-phosphate-dependent aminotransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text in addition to its "traditional" localization in the ER for de novo sphingolipid biosynthesis, is present in other cellular compartments, including focal adhesions where it is associated with cell morphology
    basic FUNCTION
  • initial step in sphingolipid biosynthesis, key enzyme for regulating cellular sphingolipid content
  • binds PARD3 that modulates monocyte serine palmitoyltransferase activity and chemotaxis
  • inhibits ABCA1 activity leading to the blockade of the exit of ABCA1 from the endoplasmic reticulum
  • is the rate-limiting enzyme for sphingolipid biosynthesis
  • inhibits cell growth via modulating AKT1/FOXO1 pathway in renal cell carcinoma cells
  • is essential for myeloid differentiation and hematopoietic homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • mitochondrial SPTLC2 interacts and forms a complex in trans with the ER-localized SPT subunit SPTLC1
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal 5'-phosphate
    • protein
  • protein-protein interaction between SPTLC1 and the PDZ protein PARD3 (is able to associate with the SPTLC1/2 holoenzyme by binding the C-terminal SPTLC1 PDZ motif)
  • interacting with ABCA1 (inhibition of ABCA1 activity led to the blockade of the exit of ABCA1 from the endoplasmic reticulum)
  • physical interaction of ABCA1 and SPTLC1 results in reduction of ABCA1 activity and inhibition of this interaction produces enhanced cholesterol efflux
  • SPTSSA, SPTSSB share a conserved hydrophobic central domain predicted to reside in the membrane, and each interacts with both SPTLC1 and SPTLC2
  • SPTLC1 activity indirectly regulates ORMDL1, ORMDL2, ORMDL3 expression 2)
  • ORMDL3 might influence de novo sphingolipid metabolism downstream of SPTLC1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSAN1 , ALS27
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    decreased in renal cell carcinoma (RCC) tissues compared to non-tumor tissues, and low SPTLC1 expression was associated with poor overall survival of RCC patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    SPTLC1, SPTLC2, SPTLC3 and MIR137 may be potential therapeutic targets for sporadic Alzheimer disease
    ANIMAL & CELL MODELS