Mthfr methylenetetrahydrofolate reductase [Rattus norvegicus (Norway rat)] - Gene

Summary

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

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_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

General gene information

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Markers

RH139447 (e-PCR)
- UniSTS:221533

BE120126 (e-PCR)
- UniSTS:247248

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

EC 1.5.1.20

XP_006239475.1

EC 1.5.1.20

XP_006239476.1

EC 1.5.1.20

XP_006239479.1

EC 1.5.1.20

XP_342976.3

EC 1.5.1.20

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)

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

NC_086023.1 Reference GRCr8

Range

163748346..163768141

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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 ...