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    Mthfr methylenetetrahydrofolate reductase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362657, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mthfrprovided by RGD
    Official Full Name
    methylenetetrahydrofolate reductaseprovided by RGD
    Primary source
    RGD:1309952
    See related
    EnsemblRapid:ENSRNOG00000008553 AllianceGenome:RGD:1309952
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables NADP binding activity; flavin adenine dinucleotide binding activity; and methylenetetrahydrofolate reductase (NAD(P)H) activity. Involved in several processes, including homocysteine metabolic process; response to interleukin-1; and response to vitamin B2. Biomarker of hyperthyroidism; hypothyroidism; and liver benign neoplasm. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 130.4), Heart (RPKM 41.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mthfr in Genome Data Viewer
    Location:
    5q36
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (163748346..163768141)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (158465248..158484999)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (164844642..164864360)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene natriuretic peptide A Neighboring gene chloride voltage-gated channel 6 Neighboring gene NHP2-like protein 1-like Neighboring gene similar to human chromosome 1 open reading frame 167

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. MTHFR C677T polymorphism associates with unexplained infertile male factors. Park JH, et al. J Assist Reprod Genet, 2005 Oct. PMID 16247718
    2. Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis. Soltanpour MS, et al. J Res Med Sci, 2013 Jun. PMID 24250697, Free PMC Article
    3. The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. D'Angelo A, et al. Thromb Haemost, 2000 Apr. PMID 10780318
    4. The G1691 --> A mutation of factor V, but not the G20210 --> A mutation of factor II or the C677 --> T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants. Galli M, et al. Br J Haematol, 2000 Mar. PMID 10792297
    5. Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population. Zheng YZ, et al. Br J Haematol, 2000 Jun. PMID 10929044

    See all (173) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mat1a and Mthfr genes were downregulated, during early stages of rat 2-acetylaminofluorene-induced liver carcinogenesis.
      Title: Role of epigenetic and miR-22 and miR-29b alterations in the downregulation of Mat1a and Mthfr genes in early preneoplastic livers in rats induced by 2-acetylaminofluorene.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables flavin adenine dinucleotide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables flavin adenine dinucleotide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables methylenetetrahydrofolate reductase (NAD(P)H) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylenetetrahydrofolate reductase (NAD(P)H) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylenetetrahydrofolate reductase (NAD(P)H) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables modified amino acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in S-adenosylmethionine metabolic process IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    acts_upstream_of heterochromatin organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in homocysteine metabolic process IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in homocysteine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in methionine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within methionine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in methionine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of neural tube closure ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to amino acid IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to folic acid IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to vitamin B2 IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in tetrahydrofolate interconversion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tetrahydrofolate interconversion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tetrahydrofolate interconversion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tetrahydrofolate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methylenetetrahydrofolate reductase (NADPH)
    Names
    5,10-methylenetetrahydrofolate reductase (NADPH)
    methylenetetrahydrofolate reductase (NAD(P)H)
    NP_001413971.1
    XP_006239475.1
    XP_006239476.1
    XP_006239479.1
    XP_342976.3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001427042.1 → NP_001413971.1  methylenetetrahydrofolate reductase (NADPH)

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000005
      UniProtKB/TrEMBL
      A0A8I6A5Q6, A6IU42, A6IU43
      Related
      ENSRNOP00000086290.1, ENSRNOT00000118752.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086023.1 Reference GRCr8

      Range
      163748346..163768141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006239414.5 → XP_006239476.1  methylenetetrahydrofolate reductase (NADPH) isoform X3

      See identical proteins and their annotated locations for XP_006239476.1

      UniProtKB/TrEMBL
      A6IU40, A6IU42, D4A7E8
      Related
      ENSRNOP00000011384.6, ENSRNOT00000011384.9
      Conserved Domains (1) summary
      cl00246
      Location:65 → 631
      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_006239417.2 → XP_006239479.1  methylenetetrahydrofolate reductase (NADPH) isoform X4

      See identical proteins and their annotated locations for XP_006239479.1

      UniProtKB/TrEMBL
      A0A8I6A5Q6, A6IU42, A6IU43
      Conserved Domains (1) summary
      cl00246
      Location:59 → 625
      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_006239413.5 → XP_006239475.1  methylenetetrahydrofolate reductase (NADPH) isoform X2

      See identical proteins and their annotated locations for XP_006239475.1

      UniProtKB/TrEMBL
      A6IU42
      Related
      ENSRNOP00000085916.2, ENSRNOT00000102508.2
      Conserved Domains (1) summary
      cl00246
      Location:99 → 665
      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_342975.9 → XP_342976.3  methylenetetrahydrofolate reductase (NADPH) isoform X1

      See identical proteins and their annotated locations for XP_342976.3

      UniProtKB/TrEMBL
      A0A8I6A4C5, A6IU41, A6IU42
      Conserved Domains (1) summary
      cl00246
      Location:100 → 666
      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 ...
    Nucleotide Protein Strain
    Heading Accession and Version

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