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FLASH GENE
Symbol NSMCE3 contributors: mct - updated : 07-05-2020
HGNC name NSE3 homolog, SMC5-SMC6 complex component
HGNC id 7677
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains a MAGE domain
HOMOLOGY
interspecies ortholog to 76p100 identical to the murine Mage-g1 protein
intraspecies homolog to NDN
Homologene
FAMILY necdin/MAGE gene family
CATEGORY signaling growth factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
intracellular,nucleus,nucleoplasm
basic FUNCTION
  • growth suppressor that facilitates the entry of the cell into cell cycle arrest
  • plays role in the early process of neurogenesis
  • its expression was increased with the differentiation time and the interactions between NSMCE3 and FSCN1 or VIM strengthen as well
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NSMCE1, NSMCE3, EID3 form a tight sub-complex of the large SMC5-6 protein complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds the C-terminus of E2F1 and NGFR
  • NDN and NSMCE3 target both E2F1 and NGFR to regulate cell viability during brain development
  • EID3 interact with most NSMCE3/MAGE proteins
  • EID3 is able to bind not only the NSMCE3/MAGEG1 subunit of the human SMC5-6 complex but other human MAGE proteins, which are not part of this complex
  • functional linkage between NSMCE3, VIM and FSCN1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in a autosomal recessive chromosome breakage syndrome that leads to defective T and B cell function and acute respiratory distress syndrome in early childhood
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS