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FLASH GENE
Symbol NNAT contributors: mct - updated : 29-09-2010
HGNC name neuronatin
HGNC id 7860
Location 20q11.23      Physical location : 36.149.606 - 36.152.088
Synonym symbol(s) PEG5, MGC1439
DNA
TYPE functioning gene
SPECIAL FEATURE gene in gene
text within an intron of the BLCAP gene (nonimprinted gene), but on the opposite strand, in a "micro-imprinted" domain
STRUCTURE 3.60 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure
  • binding sites for SP1, AP3
  • a 1.8-kb CpG island in its promoter region exhibits differential methylation in all tissues
  • MAPPING cloned Y linked N status provisional
    Physical map
    DAP4 20q11.23 disks large-associated protein 4 MYL9 20q11.22 myosin, light polypeptide 9, regulatory TGIF2 20q11.2-q12 TGFB-induced factor 2 (TALE family homeobox) C20orf24 20q11.23 chromosome 20 open reading frame 24 SLA2 20q11.22 Src-like-adaptor 2 NDRG3 20q11.21-q11.23 NDRG family member 3 C20orf172 20q11.23 chromosome 20 open reading frame 172 KIAA0889 20q11.23 KIAA0889 protein LOC343574 20q11.23 similar to dJ132F21.2 (Contains a novel protein similar to the L82E from Drosophila) SAMHD1 20q11.22 SAM domain and HD domain 1 RBL1 20q11.21 retinoblastoma-like 1 (p107) RPS3AP3 20q11.2 ribosomal protein S3A pseudogene 3 C20orf132 20q11.22 chromosome 20 open reading frame 132 RPN2 20q11.22-q11.23 ribophorin II GHRH 20q11.21 growth hormone releasing hormone MANBAL 20q11.23-q12 mannosidase, beta A, lysosomal-like SRC 20q11.21 v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) RPL7AL4 20q11.2 ribosomal protein L7A-like 4 BLCAP 20q11.2-q12 bladder cancer associated protein NNAT 20q11.2-q12 neuronatin PPIAP3 20q11.23 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 GLRXP 20q11.2 glutaredoxin (thioltransferase) pseudogene CTNNBL1 20q11.23-q12 catenin, beta like 1 C20orf102 20q11.23 chromosome 20 open reading frame 102 KIAA0406 20q11.21-q12 Homo sapiens KIAA0406 gene product (KIAA0406), mRNA. C20orf77 20q11.21-q12 chromosome 20 open reading frame 77 TGM2 20q11.2 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) KIAA1755 20q12 KIAA1755 protein BPI 20q11.23 bactericidal/permeability-increasing protein LBP 20q11.23-q12 lipopolysaccharide binding protein LOC388796 20 LOC388796 LOC128439 20q12 hypothetical gene LOC128439 KIAA1219 20q12 KIAA1219 protein RPS3P2 20q11.2 ribosomal protein S3 pseudogene 2 MGC39724 20q12 hypothetical protein MGC39724 LOC391247 20 similar to DNA replication complex GINS protein PSF2 (HSPC037) (CGI-122) (DC5) LOC343578 20q12 similar to dJ1100H13.4 (putative RhoGAP domain containing protein)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 1338 9.24 81 - 1997 PMID: 935692
    also called NNAT alpha
    - splicing 1257 - 54 - 2008 PMID: 182898
  • also called NNAT beta
  • expression of Nnatbeta increased hyperglycemia-induced apoptosis
  • 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