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FLASH GENE
Symbol NSMAF contributors: mct/npt - updated : 09-04-2010
HGNC name neutral sphingomyelinase (N-SMase) activation associated factor
HGNC id 8017
Location 8q12.1      Physical location : 59.496.065 - 59.572.404
Synonym name
  • factor associated with neutral sphingomyelinase activation
  • neutral sphingomyelinases
  • factor associated with N-SMase activation
  • Synonym symbol(s) FAN
    DNA
    TYPE functioning gene
    STRUCTURE 76.34 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 3522 - 948 - Zhang (1999)
    31 - 3582 - 917 - Zhang (1999)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemuteruscervix highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five BEACH domains in the central region
  • five WD-40 repeats in the C terminal region
  • isoforms Precursor ND binding site within the C terminal region containing 5 WD repeats
    HOMOLOGY
    interspecies homolog to murine Beige
    intraspecies homolog to LYST
    Homologene
    FAMILY
    CATEGORY adaptor , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    basic FUNCTION
  • interacting signal transduction events that induce inflammatory and proliferative responses to TNF stimulation
  • regulator of ceramide production
  • TNFRSF1A (TNF-R55)-associated protein essential
  • for the activation of neutral sphingomyelinase
  • mediates activation of SMPD2 as well as regulation of lysosome size by signaling pathways that operate independent from activation/membrane recruitment of PKC (Möhlig 2007)
  • involved in TNF-induced gene expression and leukocyte recruitment, contributing to the establishment of the specific immune response (Montfort 2009)
  • necessary intracellular intermediate for sickness behavior (Palin 2009)
  • recruits the WD repeat protein RACK1 to TNFRSF1A and in complex modulates the activity of SMPD3 (Philipp 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • with EED recruited to the TNFRSF1A•NSMAF•RACK1-complex (Philipp 2010)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • adaptor protein that constitutively binds to TNFRSF1A (Montfort 2009)
  • receptor for activated C-kinase (RACK)1 is an interaction partner
  • cell & other
    REGULATION
    activated by TNFRSF1A
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS