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FLASH GENE
Symbol NNAT contributors: mct - updated : 29-09-2010
HGNC name neuronatin
HGNC id 7860
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
 pancreas   highly
Nervousbrain   highly
Visualeye   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text
  • placenta and predominantly in brain
  • predominantly expressed in the fetal central and peripheral nervous systems and is gradually diminished according to the neural maturation
  • IMPRINTING maternally
    text paternally expressed
    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