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FLASH GENE
Symbol ALDH4A1 contributors: - updated : 05-02-2004
HGNC name aldehyde dehydrogenase 4 family, member A1
HGNC id 406
Corresponding disease
P5CDD hyperprolinemia, type II
Location 1p36      Physical location : 19.197.925 - 19.229.293
Synonym name
  • delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
  • aldehyde dehydrogenase 4 (glutamate gamma-semialdehyde dehydrogenase;
    • pyrroline-5-carboxylate dehydrogenase)
  • P5C dehydrogenase
    • Synonym symbol(s) P5CDH, P5CD, ALDH4
    EC.number 1.5.1.12
    DNA
    TYPE functioning gene
    STRUCTURE 31.00 kb     16 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3160 61 563 containing a 1kb insert in the 3'untranslated region Hu
    Both variants encode the same protein
    - - 2147 61 563 - Hu
    Both variants encode the same protein
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		a putative 24 aminoacid N terminal mitochondrial targeting sequence
    mono polymer homomer , dimer
    isoforms Precursor targeting sequence cleaved to produced a mature monomer of 539 aminoacids
    HOMOLOGY
    interspecies homolog to murine Aldh4a1
    Homologene
    FAMILY aldehyde dehydrogenase family
    CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • oxydoreductase
  • aldehyde dehydrogenase 4 (glutamate gamma-semialdehyde dehydrogenase; pyrroline-5-carboxylate dehydrogenase)
  • converting proline or ornithine to glutamate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism aminoacid
    signaling
    proline metabolism and catabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NAD+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) P5CDD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS