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    DHFR dihydrofolate reductase [ Homo sapiens ]

    Gene ID: 1719, updated on 12-May-2012
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    Summary

    Official Symbol
    DHFRprovided by HGNC
    Official Full Name
    dihydrofolate reductaseprovided by HGNC
    Primary source
    HGNC:2861
    See related
    Ensembl:ENSG00000228716; HPRD:00519; MIM:126060; Vega:OTTHUMG00000162529
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DYR; DHFRP1
    Summary
    Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    5q11.2-q13.2
    Sequence :
    Chromosome: 5; NC_000005.9 (79922045..79950800, complement)
    See DHFR in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 34B Neighboring gene diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2 Neighboring gene MT-RNR2-like 2 Neighboring gene mutS homolog 3 (E. coli) Neighboring gene ribosomal protein S26 pseudogene 27 Neighboring gene Ras protein-specific guanine nucleotide-releasing factor 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Identification of endogenous ligands bound to bacterially expressed human and E. coli dihydrofolate reductase by 2D NMR. Bhabha G, et al. FEBS Lett, 2011 Nov 16. PMID 22024482.
    2. Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability. Dutta S, et al. Nutr Neurosci, 2011 Sep. PMID 22005284.
    3. Molecular monitoring of resistant dhfr and dhps allelic haplotypes in Morogoro and Mvomero districts in south eastern Tanzania. Malisa A, et al. Afr Health Sci, 2011 Jun. PMID 21857842.
    4. Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Cario H, et al. Am J Hum Genet, 2011 Feb 11. PMID 21310277.
    5. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Banka S, et al. Am J Hum Genet, 2011 Feb 11. PMID 21310276.

    See all (114) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. human dihydrofolate reductase is bound to NADP.
      Title: Identification of endogenous ligands bound to bacterially expressed human and E. coli dihydrofolate reductase by 2D NMR.
    2. Constituents of the folate cycle could be involved in the etiology of idiopathic intellectual disability.
      Title: Importance of gene variants and co-factors of folate metabolic pathway in the etiology of idiopathic intellectual disability.
    3. This report has clearly shown that the population rate of change of resistant dhfr and dhps alleles is contingent to the sulfadoxine-pyrimethamine usage in the population in the Morogor-Mvomero district
      Title: Molecular monitoring of resistant dhfr and dhps allelic haplotypes in Morogoro and Mvomero districts in south eastern Tanzania.
    4. The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for Down syndrome and was not related to variations in the concentrations of serum folate and plasma homocysteine and methylmalonic acid in the study population.
      Title: 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism.
    5. The 19-base pair deletion polymorphism of DHFR was studied in Japanese. The genotype distribution was wild/wild, 11.9%; wild/deletion, 40.1%; deletion/deletion, 48.0%. Frequencies of wild type and deletion alleles were 0.32 and 0.68, respectively.
      Title: Dihydrofolate reductase gene intronic 19-bp deletion polymorphisms in a Japanese population.
    6. Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
      Title: Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
    7. Dihydrofolate reductase deficiency is associated with inborn error of metabolism.
      Title: Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. the first kinetic parameters for DHFR from pjDHFR and pcDHFR with methotrexate (MTX), trimethoprim (TMP), and its potent analogue, PY957, is reported.
      Title: Correlations of inhibitor kinetics for Pneumocystis jirovecii and human dihydrofolate reductase with structural data for human active site mutant enzyme complexes.
    10. DNA variants have a role in predisposition to disease-free survival in childhood acute lymphoblastic leukemia
      Title: DNA variants in region for noncoding interfering transcript of dihydrofolate reductase gene and outcome in childhood acute lymphoblastic leukemia.
    Submit: New GeneRIF Correction See all (52)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Megaloblastic anemia due to dihydrofolate reductase deficiency

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P00374 P07306 ASGR1    HPRD  PubMed  
    P00374 P62942 FKBP1A    HPRD  PubMed  
    P00374 P10809 HSPD1    HPRD  PubMed  
    P00374 P07996 THBS1    HPRD  PubMed  
    P00374 Q15388 TOMM20    HPRD  PubMed  
    BioGRID:108065 BioGRID:108570 FKBP1A    BioGRID  PubMed Biochemical Activity 
    BioGRID:108065 BioGRID:109561 HSPD1    BioGRID  PubMed Co-purification; Reconstituted Complex 
    BioGRID:108065 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:108065 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108065 BioGRID:112915 THBS1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108065 BioGRID:113010 TP53    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108065 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the DHFR gene: The DHFR gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, and .
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

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    General protein information

    Preferred Names
    dihydrofolate reductase
    Names
    dihydrofolate reductase
    NP_000782.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023304.1 RefSeqGene

      Range
      5001..33756
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000791.3 → NP_000782.1  dihydrofolate reductase

      Status: REVIEWED

      Source sequence(s)
      AA489055, AC008434, BC003584, CB988944
      Consensus CDS
      CCDS47240.1
      UniProtKB/TrEMBL
      B0YJ76
      UniProtKB/Swiss-Prot
      P00374
      Related
      ENSP00000396308, OTTHUMP00000222282, ENST00000439211, OTTHUMT00000369450
      Conserved Domains (1) summary
      cd00209
      Location:5 – 184
      Blast Score: 428
      DHFR; Dihydrofolate reductase (DHFR). Reduces 7,8-dihydrofolate to 5,6,7,8-tetrahydrofolate with NADPH as a cofactor. This is an essential step in the biosynthesis of deoxythymidine phosphate since 5,6,7,8-tetrahydrofolate is required to regenerate 5, ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      79922045..79950800, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      75130997..75159721, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008434.5 (6491..34521) None
    genomic AC010270.8 (88549..88684) None
    genomic CH471084.1 EAW95859.1
      EAW95860.1
    genomic J00139.1 AAA58484.1
    genomic X00855.1 CAA25409.1
    mRNA AA489055.1 None
    mRNA AK293146.1 BAG56693.1
    mRNA AK297302.1 BAG59770.1
    mRNA AK308492.1 None
    mRNA AK312642.1 BAG35526.1
    mRNA BC000192.1 AAH00192.1
    mRNA BC003584.1 AAH03584.2
    mRNA BC009634.1 None
    mRNA BC070280.1 AAH70280.1
    mRNA BC071996.1 AAH71996.1
    mRNA CB988944.1 None
    mRNA EU145592.1 ABX57718.1
    mRNA J00140.1 AAA58485.1
    mRNA V00507.1 CAA23765.1
    other-genetic DQ892816.2 ABM83742.1
    other-genetic DQ896062.2 ABM87061.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00374.2 GenPept UniProtKB/Swiss-Prot:P00374
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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