Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mtrrprovided by MGI
Official Full Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductaseprovided by MGI
Primary source: MGI:MGI:1891037
See related: Ensembl:ENSMUSG00000034617 AllianceGenome:MGI:1891037
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MSR; 4732420G08
Summary: Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Mutations in a similar gene in human have been associated with cblE complementation type homocystinuria-megaloblastic anemia and susceptibility to folate-sensitive neural tube defects. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2015]
Expression: Ubiquitous expression in limb E14.5 (RPKM 4.4), placenta adult (RPKM 3.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B3; 13 35.54 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (68708897..68730273, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (68560780..68582169, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of spermatogenesis and fertility in adult mice with a hypomorphic mutation in the Mtrr gene.
Title: Analysis of spermatogenesis and fertility in adult mice with a hypomorphic mutation in the Mtrr gene.
Hypomorphic Mtrrgt/gt mutation in mice results in late-onset and sex-specific blood defects, including macrocytic anemia.
Title: Abnormal folate metabolism causes age-, sex- and parent-of-origin-specific haematological defects in mice.
MTTR-deficient mouse strain exhibits short-term memory impairment and disturbances in brain choline metabolism.
Title: Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism.
The Mtrr genotype of either maternal grandparent dictates the developmental potential of their wild-type grandprogeny. These effects are associated with altered DNA methylation patterns and two distinct phenotypes: intrauterine growth defects and congenital malformations that are separable through embryo transfer experiments.
Title: Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development.
Mtrr deficiency adversely impacts reproductive outcomes and cardiac development in mice.
Title: Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Mtrr (e-PCR), detects polymorphism
- UniSTS:499192

Mtrr (e-PCR), detects polymorphism
- UniSTS:499193

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables FAD binding	ISO Inferred from Sequence Orthology more info
enables FMN binding	IBA Inferred from Biological aspect of Ancestor more info
enables FMN binding	ISO Inferred from Sequence Orthology more info
enables NADPH binding	ISO Inferred from Sequence Orthology more info
enables NADPH-hemoprotein reductase activity	ISO Inferred from Sequence Orthology more info
enables [methionine synthase] reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables [methionine synthase] reductase (NADPH) activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables [methionine synthase] reductase (NADPH) activity	ISO Inferred from Sequence Orthology more info	PubMed
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	ISO Inferred from Sequence Orthology more info
enables flavin adenine dinucleotide binding	ISS Inferred from Sequence or Structural Similarity more info
enables oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in S-adenosylmethionine cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in folic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in folic acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in homocysteine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in homocysteine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in homocysteine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in methionine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in methionine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in methionine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cystathionine beta-synthase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein stabilization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: methionine synthase reductase

Names: aqCbl reductase; aquacobalamin reductase

NP_001295404.1

EC 1.16.1.8

NP_766068.1

EC 1.16.1.8

XP_006517242.1

EC 1.16.1.8

XP_006517244.1

EC 1.16.1.8

XP_006517245.1

EC 1.16.1.8

XP_036013852.1

EC 1.16.1.8

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_001308475.2 → NP_001295404.1 methionine synthase reductase

See identical proteins and their annotated locations for NP_001295404.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

CT033781

Consensus CDS

CCDS26620.1

UniProtKB/Swiss-Prot

Q3U2C6, Q8C1A3, Q8R0Y3

UniProtKB/TrEMBL

A0A0R4J0G9

Related

ENSMUSP00000152387.2, ENSMUST00000223398.2

Conserved Domains (2) summary

cd06203
Location:275 → 695

methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...

pfam00258
Location:6 → 142

Flavodoxin_1
NM_172480.4 → NP_766068.1 methionine synthase reductase

See identical proteins and their annotated locations for NP_766068.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

CT033781

Consensus CDS

CCDS26620.1

UniProtKB/Swiss-Prot

Q3U2C6, Q8C1A3, Q8R0Y3

UniProtKB/TrEMBL

A0A0R4J0G9

Related

ENSMUSP00000039810.5, ENSMUST00000045827.5

Conserved Domains (2) summary

cd06203
Location:275 → 695

methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...

pfam00258
Location:6 → 142

Flavodoxin_1

RNA

NR_131892.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons and uses and alternate 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CT033781

Related

ENSMUST00000223101.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

68708897..68730273 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157959.1 → XP_036013852.1 methionine synthase reductase isoform X1

UniProtKB/Swiss-Prot

Q3U2C6, Q8C1A3, Q8R0Y3

UniProtKB/TrEMBL

A0A0R4J0G9

Conserved Domains (2) summary

cd06203
Location:275 → 695

methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...

pfam00258
Location:6 → 142

Flavodoxin_1
XM_006517181.4 → XP_006517244.1 methionine synthase reductase isoform X1

See identical proteins and their annotated locations for XP_006517244.1

UniProtKB/Swiss-Prot

Q3U2C6, Q8C1A3, Q8R0Y3

UniProtKB/TrEMBL

A0A0R4J0G9

Conserved Domains (2) summary

cd06203
Location:275 → 695

methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...

pfam00258
Location:6 → 142

Flavodoxin_1
XM_006517179.4 → XP_006517242.1 methionine synthase reductase isoform X1

See identical proteins and their annotated locations for XP_006517242.1

UniProtKB/Swiss-Prot

Q3U2C6, Q8C1A3, Q8R0Y3

UniProtKB/TrEMBL

A0A0R4J0G9

Conserved Domains (2) summary

cd06203
Location:275 → 695

methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...

pfam00258
Location:6 → 142

Flavodoxin_1
XM_006517182.1 → XP_006517245.1 methionine synthase reductase isoform X1

See identical proteins and their annotated locations for XP_006517245.1

UniProtKB/Swiss-Prot

Q3U2C6, Q8C1A3, Q8R0Y3

UniProtKB/TrEMBL

A0A0R4J0G9

Conserved Domains (2) summary

cd06203
Location:275 → 695

methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...

pfam00258
Location:6 → 142

Flavodoxin_1