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FLASH GENE
Symbol DHFR contributors: mct - updated : 18-03-2011
HGNC name dihydrofolate reductase
HGNC id 2861
Corresponding disease
DHFRD dehydrofolate deficiency
Location 5q14.1      Physical location : 79.922.044 - 79.950.800
EC.number 1.5.1.3
DNA
TYPE functioning gene
STRUCTURE 28.75 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
text structure cis-acting regulatory element in the protein-coding region , mediating RNA-protein interactions
MAPPING cloned Y linked Y status confirmed
Physical map
ARSB 5q13 arylsulfatase B DMGDH 5q12.2-q12.3 arylsulfatase B BHMT2 5q13 betaine-homocysteine methyltransferase 2 BHMT 5q13.1-q15 betaine-homocysteine methyltransferase JMY 5q14.1 junction-mediating and regulatory protein HOMER1 5q25 homer homolog 1 (Drosophila) LOC133748 5q14.1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) FLJ38499 5q14.1 hypothetical protein FLJ38499 CMYA5 5q14.1 cardiomyopathy associated 5 LOC391802 5 similar to 60S ribosomal protein L10 (QM protein homolog) LOC345778 5q14.1 similar to hypothetical protein THBS4 5q13 thrombospondin 4 C5orf12 5 chromosome 5 open reading frame 12 LOC391803 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC134478 5q14.1 similar to cytoplasmic beta-actin NYD-TSP1 5q14.1 testis-specific protein NYD-TSP1 LOC391804 5 similar to hypothetical protein LOC391805 5 hypothetical gene supported by NM_004269 LOC153817 5q14.1 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) ZFYVE16 5p15.2-q14.3 zinc finger, FYVE domain containing 16 LOC167555 5q14.1 similar to AASA9217 LOC340120 5q14.1 similar to RIKEN cDNA 6430502M16 gene LOC389306 5 LOC389306 DBIL1 5pter-p15.32 diazepam binding inhibitor-like 1 DHFR 5q13.2 dihydrofolate reductase MSH3 5q11-q12 mutS homolog 3 (E. coli) RASGRF2 5q13 Ras protein-specific guanine nucleotide-releasing factor 2 CKMT2 5q13.3 creatine kinase, mitochondrial 2 (sarcomeric) DKFZp761J139 5q14.1 hypothetical protein DKFZp761J139 CACH-1 5q14.1 cytosolic acetyl-CoA hydrolase SSBP2 5q14.1 single-stranded DNA binding protein 2 DSS1P1 5q14 single-stranded DNA binding protein 2 APG10L 5q14.1 APG10 autophagy 10-like (S. cerevisiae) PPIP1 5q14.1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 RPS23 5q13-q14 ribosomal protein S23 LOC92270 5q14.1 hypothetical protein LOC92270
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3932 - 187 - 2004 14664697
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestinelarge intestinecolon highly
Lymphoid/Immunelymph node   highly
 thymus   highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
cell cycle     cell cycle, S
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to Drosophila Dhfr
homolog to C.elegans C36B1.7
ortholog to murine Dhfr
Homologene
FAMILY dihydrofolate reductase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
basic FUNCTION
  • converting dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid and certain amino acids
  • catalyzes the NADPH-dependent reduction of dihydrofolate to tetrahydrofolate, an essential step in the synthesis of precursors of DNA, including glycine and purines, and the conversion of deoxyuridine monophosphate to deoxythymidine monophosphate
  • modulator of beta-catenin and GSK3 signaling
  • necessary for maintaining sufficient cerebrospinal fluid and red blood cells folate levels, even in the presence of adequate nutritional folate supply and normal plasma folate
  • plays a key role in maintaining intracellular folate homeostasis and is an important target for cytostatic drugs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism nucleic , aminoacid , purine/pyrimidine , vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NADP
    protein interacting with MDM2 (ability of MDM2 to inhibit DHFR activity depends upon an intact MDM2 RING finger)
    cell & other
    REGULATION
    activated by upregulated MYC target gene
    repressed by HOA repressed the expression of dihydrofolate reductase (DHFR), the enzyme responsible for tetrahydrofolate (THF) synthesis
    ASSOCIATED DISORDERS
    corresponding disease(s) DHFRD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    polymorphism in intron 1 significantly more frequent in mother with foetus spina bifida
    constitutional   deletion    
    associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate
    Susceptibility
  • to spina bifida
  • to intracranial aneurysms
  • Variant & Polymorphism other
  • polymorphisms are possible risk factors for the formation of intracranial aneurysms
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    critical target in cancer chemotherapy
    ANIMAL & CELL MODELS