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FLASH GENE
Symbol ALDH1L1 contributors: mct/npt/pgu - updated : 06/11/2008
HGNC name aldehyde dehydrogenase 1 family, member L1
HGNC id 3978
Location 3q21.2      Physical location : 125.822.407 - 125.899.485
Synonym name formyltetrahydrofolate dehydrogenase
Synonym symbol(s) FTHFD, 10-fTHF, DKFZp781N0997, FDH
EC.number 1.5.1.6
DNA
TYPE functioning gene
STRUCTURE 77.08 kb     23 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 - 3125 98.7 902 - 2002 12065246
- - 2874 55.4 505 - 1999 10204077
  • lacking alternate coding exons which causes a frameshift compared to variant 1
  • 21 exons
  • EXPRESSION
    Rna function mRNA is highest in liver, kidney, and pancreas
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarybladder   predominantly
     kidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text cell-specifically expressed in PAX3-negative radial glia at the midline of the neural tube
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain (AAs 1310) shares sequence homology and structural topology with other enzymes utilizing 10-fTHF as a substrate
  • a acyl carrier domain
  • C-terminal domain (AAs 400902) originates from an aldehyde dehydrogenase-related gene
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to Drosophila CG8665
    homolog to C.elegans F36H1.6
    homolog to rattus 10-FTHFDH
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the conversion of 10-formyltetrahydrofolate, NADP and water to tetrahydrofolate, NADPH and carbon dioxide
  • induces phosphorylation of TP53 at Ser6, which is a required step in the activation of apoptosis
  • induces phosphorylation of MAPK8 and MAPK9
  • folate enzyme with tumor suppressor-like properties that inhibits cell motility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism organic acid
    signaling
    10-formyltetrahydrofolate catabolism
    a component
  • tetramer of four identical 902-AAs subunits, and each is a product of the natural fusion of three unrelated genes corresponding to three distinct functional domain
  • INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADP/NADPH
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in accumulation of formate and subsequent methanol poisoning
    tumoral        
    in down-regulated in several types of cancer on both the mRNA and the protein level
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS