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FLASH GENE
Symbol NAA30 contributors: mct - updated : 14-12-2018
HGNC name N-acetyltransferase 12
HGNC id 19844
Location 14q22.3      Physical location : 57.857.270 - 57.879.467
Synonym name
  • chromosome 14 open reading frame 35
  • NAT12 protein
  • Synonym symbol(s) C14orf35, FLJ35355, MAK3, Mak3p, MGC141884, MGC141885, NAT12, NAT12p
    EC.number 2.3.1.256
    DNA
    TYPE functioning gene
    STRUCTURE 22.20 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 4490 - 362 cytoplasmic 2018 29247799
    - splicing - - - . abundantly present in thyroid cancer tissues and in several different human cancer cell lines . localized predominantly to the nucleus 2018 29247799
  • no significant NAT activity
  • did not exert an anti-apoptotic effect
  • potential non-catalytic role in the nucleus
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Nat12 (89 pc)
    Homologene
    FAMILY acetyltransferase (GNAT) family
    CATEGORY enzyme , unknown/unspecified , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • NATc-mediated N-terminal acetylation is important for maintenance of protein function and cell viability in human cells
  • its overexpression increased cell viability via inhibition of apoptosis
  • depletion of the catalytic subunit NAA30 affects mitochondrial morphology and function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of NATc complex with NAA35 and NAA38
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • plays an important role in growth and survival of glioblastoma-initiating cells (GICs) possibly by regulating hypoxia response (HIF1A), levels of phospho-MTOR (Ser2448) and the TP53 pathway
  • Golgi apparatus (GA) associated GTPase (ARFRP1) was previously shown to require N-terminal acetylation for membrane association and based on its N-terminal sequence, it is likely to be a substrate of NAA30
  • NAA30 depletion induces Golgi scattering and induces aberrant ARFRP1 Golgi localization
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to mitochondrial fragmentation, perinuclear redistribution and clearance, independent of TP53-induced apoptosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS