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FLASH GENE
Symbol NAT8 contributors: mct/ - updated : 23-08-2015
HGNC name N-acetyltransferase 8 (GCN5-related, putative)
HGNC id 18069
Location 2p13.1      Physical location : 73.867.849 - 73.869.537
Synonym name
  • N-acetyltransferase 8 (camello like)
  • camello-like protein 1
  • kidney- and liver-specific gene product
  • Synonym symbol(s) GLA, CML1, TSC501, TSC510, ATase2
    EC.number 2.3.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 1.69 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • a contribution of highly variable NAT8 promoter polymorphisms in determination of systolic blood pressure
  • present in variable copy numbers depending on the species
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1073 - 227 - 2010 20392701
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately Homo sapiens
    Urinarykidneytubuleconvoluted tubule moderately Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarytubular cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a rather conserved region of about 30 AAs
  • a hydrophobic stretch of &
  • 8764;30 AAs, presumably responsible for the attachment of NAT8 and NAT8L proteins to membranes
  • a C-terminal region of about 120 AAs, which aligns with other N-acetyltransferases
  • HOMOLOGY
    Homologene
    FAMILY
  • acetyltransferase family
  • camello family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text associated with the endoplasmic reticulum
    basic FUNCTION
  • involved in development and maintenance of kidney and liver structure and function
  • putative N-acetyltransferase that produces N-acetylaspartate in brain
  • involved in mercapturic acid formation
  • involved in mercapturic acid formation
  • catalyze transfer of an acetyl group from acetyl-coenzyme A to a wide range of acceptor substrates
  • NAT8 and NAT8B share enzymatic properties but differ in that NAT8B is post-translationally regulated via acetylation
  • important regulatory roles for NAT8B and NAT8 in neuron function with induction of NAT8 expression potentially serving as a critical event that adjusts the efficiency of the secretory pathway for activity-dependent neuronal functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism drug
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NAT8B and ATase2 (NAT8), can physically interact with PROM1 to acetylate the protein on three lysine residues predicted to reside on the first extracellular loop of PROM1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to chronic kidney disease
  • to higher systolic blood pressure and kidney failure
  • Variant & Polymorphism SNP , other
  • rs10206899 associated with chronic kidney disease
  • SNP increasing the risk of higher systolic blood pressure and kidney failure
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS