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FLASH GENE
Symbol MTHFD1L contributors: SGE/npt - updated : 06-05-2010
HGNC name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
HGNC id 21055
Location 6q25.1      Physical location : 151.186.690 - 151.423.020
Synonym name
  • mitochondrial C1-THF synthase
  • formyltetrahydrofolate synthetase domain containing 1
  • C1-tetrahydrofolate synthase
  • MTHFD1L protein
  • 10-formyl-THF synthetase
  • Synonym symbol(s) FLJ21145, FTHFSDC1, dJ292B18.2, DKFZP586G1517, RP1-292B18.2, MTC1THFS
    EC.number 6.3.4.3
    DNA
    TYPE functioning gene
    STRUCTURE 236.33 kb     28 Exon(s)
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    text structure plus an additional 5'-exon that encodes 60 additional N-terminal amino acids
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 3613 106 978 - Prasannan (2003)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver    
     mouthtongue  highly
     stomach    
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  highly
     female systemovary  highly
     female systemuterus   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal mitochondrial targeting sequence
  • a n-terminal part, containing the methylene-thf dehydrogenase and the methenyl-thf cyclohydrolase activities
  • a larger formyl-thf synthetase domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mthfd1l (88.3pc)
    homolog to rattus Mthfd1l (87.8pc)
    intraspecies homolog to MTHFD1
    Homologene
    FAMILY
  • tetrahydrofolate dehydrogenase/cyclohydrolase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • enzyme involved in the synthesis of formyl-methionyl-tRNA for mitochondrial protein synthesis and may also playing an important role in homocysteine metabolism
  • may participate in the progression of colorectal cancer by conferring growth advantage and could be a new molecular target for cancer therapy
  • monofunctional 10-formyl-THF synthetase (MTHFD1L gene product) functions in adult mitochondria and is a likely candidate for the embryonic activity (Pike 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    colorectal carcinoma
    Susceptibility to neural tube defect
    Variant & Polymorphism other common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency (Parle-McDermott 2009)
    Candidate gene for therapeutic in colorectal carcinoma
    Marker
    Therapy target
    ANIMAL & CELL MODELS