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    DHFR dihydrofolate reductase [ Homo sapiens (human) ]

    Gene ID: 1719, updated on 25-May-2017
    Official Symbol
    DHFRprovided by HGNC
    Official Full Name
    dihydrofolate reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:2861
    See related
    Ensembl:ENSG00000228716 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
    Orthologs
    Location:
    5q14.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (80626226..80654981, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79922045..79950800, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1337 Neighboring gene diazepam binding inhibitor, acyl-CoA binding protein pseudogene 2 Neighboring gene MT-RNR2-like 2 Neighboring gene mutS homolog 3 Neighboring gene S-phase kinase-associated protein 1 pseudogene Neighboring gene ribosomal protein S26 pseudogene 27

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Megaloblastic anemia due to dihydrofolate reductase deficiency
    MedGen: C3151205 OMIM: 613839 GeneReviews: Not available
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    NHGRI GWAS Catalog

    Description
    Genetic variation in the HLA region is associated with susceptibility to herpes zoster.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NADPH binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dihydrofolate reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dihydrofolate reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dihydrofolate reductase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    folate reductase activity TAS
    Traceable Author Statement
    more info
     
    folic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methotrexate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translation repressor activity, nucleic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    axon regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dihydrofolate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    folic acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    glycine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of nitric-oxide synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of removal of superoxide radicals ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    response to methotrexate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tetrahydrobiopterin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tetrahydrobiopterin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tetrahydrofolate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tetrahydrofolate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    tetrahydrofolate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    dihydrofolate reductase
    NP_000782.1
    NP_001277283.1
    NP_001277286.1

    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_000791.3NP_000782.1  dihydrofolate reductase isoform 1

      See identical proteins and their annotated locations for NP_000782.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA489055, AC008434, BC003584, CB988944
      Consensus CDS
      CCDS47240.1
      UniProtKB/Swiss-Prot
      P00374
      UniProtKB/TrEMBL
      B0YJ76
      Related
      ENSP00000396308.2, OTTHUMP00000222282, ENST00000439211.6, OTTHUMT00000369450
      Conserved Domains (1) summary
      cd00209
      Location:5184
      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, ...
    2. NM_001290354.1NP_001277283.1  dihydrofolate reductase isoform 2

      See identical proteins and their annotated locations for NP_001277283.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' end compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA489055, AC008434, AC010270, AK293146
      Consensus CDS
      CCDS78028.1
      UniProtKB/Swiss-Prot
      P00374
      Related
      ENSP00000421334.1, OTTHUMP00000222283, ENST00000504396.1, OTTHUMT00000369452
      Conserved Domains (1) summary
      cd00209
      Location:1132
      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, ...
    3. NM_001290357.1NP_001277286.1  dihydrofolate reductase isoform 3

      See identical proteins and their annotated locations for NP_001277286.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA489055, AC008434, AC010270, AK297302
      Consensus CDS
      CCDS78029.1
      UniProtKB/TrEMBL
      B4DM58
      Related
      ENSP00000422732.1, OTTHUMP00000222285, ENST00000511032.5, OTTHUMT00000369454
      Conserved Domains (1) summary
      cd00209
      Location:5128
      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, ...

    RNA

    1. NR_110936.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA489055, AC008434, AC010270, AK308492

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      80626226..80654981 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      79355281..79384046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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