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    MTHFR methylenetetrahydrofolate reductase (NAD(P)H) [ Homo sapiens (human) ]

    Gene ID: 4524, updated on 5-Jul-2015
    Official Symbol
    MTHFRprovided by HGNC
    Official Full Name
    methylenetetrahydrofolate reductase (NAD(P)H)provided by HGNC
    Primary source
    HGNC:HGNC:7436
    See related
    Ensembl:ENSG00000177000; HPRD:06158; MIM:607093; Vega:OTTHUMG00000002277
    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
    Summary
    The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
    Orthologs
    See MTHFR in Epigenomics, MapViewer
    Location:
    1p36.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (11785730..11806103, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11845787..11866160, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene atrophin-1-like Neighboring gene chromosome 1 open reading frame 167 Neighboring gene uncharacterized LOC102724659 Neighboring gene chloride channel, voltage-sensitive 6 Neighboring gene NPPA antisense RNA 1 Neighboring gene natriuretic peptide A Neighboring gene natriuretic peptide B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Homocysteinemia due to MTHFR deficiency
    MedGen: C1856058 OMIM: 236250 GeneReviews: Not available
    Compare labs
    Neural tube defects, folate-sensitive
    MedGen: C1866558 OMIM: 601634 GeneReviews: Not available
    Compare labs
    Schizophrenia
    MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
    Compare labs
    Thrombophilia Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    NHGRI GWA Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    NHGRI GWA Catalog
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    NHGRI GWA Catalog
    Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
    NHGRI GWA Catalog
    Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    flavin adenine dinucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylenetetrahydrofolate reductase (NAD(P)H) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylenetetrahydrofolate reductase (NAD(P)H) activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    methylenetetrahydrofolate reductase (NAD(P)H) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    methylenetetrahydrofolate reductase (NAD(P)H) activity TAS
    Traceable Author Statement
    more info
     
    modified amino acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    S-adenosylmethionine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular amino acid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    heterochromatin maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    homocysteine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methionine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    methionine metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to folic acid IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin B2 IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    tetrahydrofolate interconversion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tetrahydrofolate interconversion IEA
    Inferred from Electronic Annotation
    more info
     
    tetrahydrofolate interconversion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    tetrahydrofolate interconversion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    water-soluble vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    methylenetetrahydrofolate reductase
    Names
    5,10-methylenetetrahydrofolate reductase (NADPH)
    NP_005948.3

    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_013351.1 RefSeqGene

      Range
      5001..25374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_726

    mRNA and Protein(s)

    1. NM_005957.4NP_005948.3  methylenetetrahydrofolate reductase

      See identical proteins and their annotated locations for NP_005948.3

      Status: REVIEWED

      Source sequence(s)
      AB209113, AJ237672, AL953897, AY046560, BC053509
      Consensus CDS
      CCDS137.1
      UniProtKB/Swiss-Prot
      P42898
      UniProtKB/TrEMBL
      Q59GJ6
      UniProtKB/TrEMBL
      Q8IU67
      Related
      ENSP00000365775, OTTHUMP00000002368, ENST00000376590, OTTHUMT00000006539
      Conserved Domains (1) summary
      cd00537
      Location:60336
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      11785730..11806103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263463.2XP_005263520.1  

      Conserved Domains (1) summary
      cd00537
      Location:1254
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    2. XM_005263462.3XP_005263519.1  

      See identical proteins and their annotated locations for XP_005263519.1

      UniProtKB/Swiss-Prot
      P42898
      Conserved Domains (1) summary
      cd00537
      Location:60336
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    3. XM_005263460.3XP_005263517.1  

      See identical proteins and their annotated locations for XP_005263517.1

      UniProtKB/Swiss-Prot
      P42898
      Conserved Domains (1) summary
      cd00537
      Location:60336
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    4. XM_005263461.3XP_005263518.1  

      See identical proteins and their annotated locations for XP_005263518.1

      UniProtKB/Swiss-Prot
      P42898
      Conserved Domains (1) summary
      cd00537
      Location:60336
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    5. XM_011541495.1XP_011539797.1  

      Conserved Domains (1) summary
      cd00537
      Location:100376
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    6. XM_011541496.1XP_011539798.1  

      Conserved Domains (1) summary
      cd00537
      Location:101377
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
    7. XM_005263458.2XP_005263515.1  

      UniProtKB/Swiss-Prot
      P42898
      Conserved Domains (1) summary
      cd00537
      Location:101377
      MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      11833709..11854054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)