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Mthfr methylenetetrahydrofolate reductase [ Rattus norvegicus (Norway rat) ]

Gene ID: 362657, updated on 27-Nov-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, Nov 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, 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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