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FLASH GENE
Symbol NNAT contributors: mct - updated : 29-09-2010
HGNC name neuronatin
HGNC id 7860
PROTEIN
PHYSICAL PROPERTIES basic Hydrophobic
STRUCTURE
motifs/domains
  • hydrophobic N terminal domain, basic C terminus rich in arginine
  • HOMOLOGY
    interspecies homolog to murine Nnat
    intraspecies homolog to PMP1
    Homologene
    FAMILY
  • proteolipid family of amphipathic polypeptides
  • neuronatin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text primarily localized in the endoplasmic reticulum (ER)
    basic FUNCTION
  • regulatory subunit of ions channels
  • maintenance of segment identity in the hindbrain and pituitary development
  • functioning as a regulator of ion channels during brain development
  • involved in ion channel transport or channel modulation
  • important role for NNAT in insulin secretion and for proper beta-cell function
  • believed to be involved in ion channel transport or channel modulation
  • important role for NNAT in insulin secretion and for proper beta-cell function
  • may play a critical factor in normal beta-cell function, as well as in the pathogenesis of type 2 diabetes
  • acts as an intrinsic factor to promote neural fate in mammals
  • initiates neural induction in embryonic stem cells through increasing intracellular Ca(2+) by antagonising Ca(2+)-ATPase isoform 2 (SERCA 2) in the endoplasmic reticulum
  • stimulate the glycogen synthesis through the activation of glycogen synthase and NHLRC1 prevents NNAT-induced glycogen synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • downstream target of BETA2/NEUROD1
  • NHLRC1 interacts with neuronatin (NNAT)and enhances its degradation through proteasome
  • cell & other
    REGULATION
    Other direct transcriptional regulation of NNAT by NEUROD1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by aberrant hypermethylation in pediatric acute leukemia
    tumoral     --over  
    in several pituitary adenomas, including ACTH-producing, GH-producing, and nonfunctioning adenomas, but hardly detected in other brain tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • aberrant expression of NNAT and TNC was a useful marker for distinguishing malignant peripheral nerve sheath tumor (MPNST) from benign neurofibroma
  • may be useful as a prognostic marker for lung adenocarcinoma
  • Therapy target
    ANIMAL & CELL MODELS