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FLASH GENE
Symbol SGMS1 contributors: mct/npt/pgu - updated : 06-07-2014
HGNC name sphingomyelin synthase 1
HGNC id 29799
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   highly
Digestivemouthtongue  moderately
Hearing/Equilibriumear   highly
Lymphoid/Immunelymph node   specific
 spleen   moderately
Nervousbrain   predominantly
 nerve   highly
Respiratoryrespiratory tractlarynx  highly
 respiratory tracttrachea  predominantly
Urinarykidney   predominantly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  moderately
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a sterile alpha motif (SAM) domain near the N-terminal region
  • four predicted transmembrane domains
  • HOMOLOGY
    interspecies homolog to rattus Tmem23 (97.3 pc)
    homolog to murine Sgms1 (97.8 pc)
    Homologene
    FAMILY
  • sphingomyelin synthase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    text
  • being a five-pass transmembrane protein
  • exclusively localized to the Golgi apparatus (Golgi trans cisterna)
  • localizes at the Golgi
  • basic FUNCTION
  • acting as a bidirectional lipid cholinephosphotransferases capable of converting phosphatidylcholine (PC) and ceramide to sphingomyelin (SM) and diacylglycerol (DAG) and vice versa
  • playing a kinase role
  • being responsible for sphyngomyelin synthase activity in mammalian cells
  • suppressing BAX-mediated apoptosis
  • preventing cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids
  • SGMS1, SGMS2 are capable of regulating the formation of DAG in cells, this pool of DAG is biologically active, and SGMS1 and SGMS2 are directly implicated as regulators of DAG-binding proteins in the Golgi apparatus
  • may protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide
  • required for cell growth
  • SGMS1-generated sphingomyelin plays an important role in transferrin trafficking and cell proliferation
  • SGMS1 and SGMS2 are capable of regulating trans golgi network-mediated protein trafficking and secretion, functions that are compatible with PKD being a down-stream target for SGMSs in the Golgi
  • SGMS1 and SGMS2 play distinct roles in regulating local SM (Sphingomyelin)clustering
  • CELLULAR PROCESS cell life, proliferation/growth
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
  • sphingolipid metabolism
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SGMS1 positively regulates KCNQ1/KCNE1 channel density in a protein kinase D-dependent manner
  • cell & other
    REGULATION
    inhibited by bacterial PC-phospholipase C inhibitor D609
    Other regulation of SGMS1 expression is complex and occurs at the transcriptional, post-transcriptional and translational levels
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS