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DHFR dihydrofolate reductase [ Homo sapiens (human) ]

Gene ID: 1719, updated on 11-Sep-2014
Official Symbol
DHFRprovided by HGNC
Official Full Name
dihydrofolate reductaseprovided by HGNC
Primary source
HGNC: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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
See DHFR in Epigenomics, MapViewer
Location:
5q11.2-q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 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 Neighboring gene S-phase kinase-associated protein 1-like Neighboring gene ribosomal protein S26 pseudogene 27

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Preferred Names
dihydrofolate reductase
Names
dihydrofolate reductase
NP_000782.1

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 

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

mRNA and Protein(s)

  1. NM_000791.3NP_000782.1  dihydrofolate reductase isoform 1

    See proteins identical to 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/TrEMBL
    B0YJ76
    UniProtKB/Swiss-Prot
    P00374
    Related
    ENSP00000396308, OTTHUMP00000222282, ENST00000439211, 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 proteins identical to 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
    UniProtKB/TrEMBL
    B4DDD2
    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 proteins identical to 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
    UniProtKB/TrEMBL
    B4DM58
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

mRNA and Protein(s)

  1. XM_005248455.2XP_005248512.1  

    Conserved Domains (1) summary
    cd00209
    Location:12147
    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, ...

Alternate HuRef

Genomic

  1. AC_000137.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

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