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FLASH GENE
Symbol ADH4 contributors: mct - updated : 09-09-2010
HGNC name alcohol dehydrogenase 4 (class II), pi polypeptide
HGNC id 252
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text see ADH@ cluster of seven genes spanning approximately 365 kb on chromosome 4q23 (Pochareddy 2010)
STRUCTURE 20.62 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor   HRE
text structure
  • several cis-acting elements in the proximal promoter region (Pocharredy 2010)
  • proximal promoter of ADH4 has multiple transcription factor binding sites including members of the C/EBP family, FOXA and AP-1 family (Pocharredy 2010)
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1980 40.1 380 - Li (1998)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinelarge intestinerectum highly
     intestinelarge intestinecolon highly
     liver   specific
     stomach   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated MetalloP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Adh4
    ortholog to murine Adh4
    Homologene
    FAMILY
  • zinc-containing alcohol dehydrogenase family
  • class-II subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text found in outer cell layers, lining the lumen (Vaglenova 2003)
    basic FUNCTION
  • contributes, in addition to alcohol, to the metabolization of a wide variety of substrates, including retinol, other aliphatic alcohols, hydroxysteroids, and biogenic amines (Rainero 2010)
  • acting as retinol dehydrogenase/retinal reductase, also sites of active retinoid metabolism in the gut, essential for mucosa function and vitamin A absorption (Vaglenova 2003)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol , other
    signaling
    long chain aliphatic and aromatic alcohols
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+ (2 ions per subunit)
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increased expression of ADH1A and ADH4 in non-alcoholic steatohepatitis livers (baker 2010)
    Susceptibility
  • to alcoholism
  • to cluster headache
    • Variant & Polymorphism SNP
  • 12SNPs significantly associated to alcoholism
  • rs1126671 polymorphism resulted significantly different between cluster headache patients and controls (Rainero 2010)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS