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FLASH GENE
Symbol NAXE contributors: mct - updated : 16-11-2016
HGNC name NAD(P)HX epimerase [Homo sapiens]
HGNC id 18453
Corresponding disease
NAXED NAXE deficiency
Location 1q23.1      Physical location : -
Synonym name
  • apoA-I binding protein
  • YjeF N-terminal domain-containing protein 1
  • apolipoprotein A-I binding protein
  • Synonym symbol(s) A1BP, MGC119143, MGC119144, MGC119145, YJEFN1, YjeF_N1, APOA1BP, AIBP
    EC.number 5.1.99.6
    DNA
    TYPE functioning gene
    STRUCTURE 2.53 kb     6 Exon(s)
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure several putative binding sites for AP1, SP1
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1121 29.1 288 - 2002 11991719
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrineadrenal gland   highly
     thyroid   highly
    Reproductivemale systemtestis  highly
    Urinarykidneynephron  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivesperm cell
    Urinarytubular cell
    cell lineage
    cell lines
    fluid/secretion in cerebrospinal fluid and urine
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal signal peptide for translocation into the endoplasmic reticulum
  • a putative signal sequence cleavage site, export-directing signal
  • several putative phosphorylation
  • O-glycosylation site
  • conjugated PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • YjeF_N family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • important role in the renal tubular degradation or resorption of APOA1
  • plays an important role in sperm capacitation possibly providing a link between protein phosphorylation and cholesterol efflux
  • secreted NAXE positively regulates cholesterol efflux from endothelial cells and effective cholesterol efflux is critical for proper angiogenesis
  • encodes two different proteins, which we show to be targeted to the mitochondria (mAIBP) and the cytosol (cAIBP)
  • contributes to mitotic entry and bipolar spindle assembly and may partially control localization, phosphorylation, and activation of both AURKA and PLK1 via NIN during mitotic progression
  • catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites
  • epimerase essential in the cellular metabolite repair for NADHX and NADPHX
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with apolipoprotein A1, the component of high-density lipoprotein involved in cholesterol transport
  • acts not only as a substrate but also as a positive regulator of both AURKA and PLK1
  • functions as a negative regulator to block phosphorylation of NIN1 mediated by AURKA and PLK1
  • cell & other
    REGULATION
    Other phosphorylated downstream to PKA activation, and localizes to both sperm head and tail domains
    ASSOCIATED DISORDERS
    corresponding disease(s) NAXED
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS