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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
Location 15q13.1      Physical location : -
Synonym name
  • hepatocellular carcinoma-associated protein 4
  • MAGE-G1 antigen
  • hepatocellular carcinoma-associated protein HCA4
  • melanoma-associated antigen G1
  • necdin-like 2
  • Synonym symbol(s) HCA4, MAGEG1, MAGEL3, LICS, NDNL2, NSE3
    DNA
    TYPE functioning gene
    STRUCTURE 4.83 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 4833 - 304 - 2011 21364888
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrineadrenal gland   highly
     parathyroid   highly
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING paternally
    text likely maternally expressed like the neighbour UBE3A gene
    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