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

Summary

Official Symbol: Mtrprovided by MGI
Official Full Name: 5-methyltetrahydrofolate-homocysteine methyltransferaseprovided by MGI
Primary source: MGI:MGI:894292
See related: Ensembl:ENSMUSG00000021311 AllianceGenome:MGI:894292
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: MS; D830038K18Rik
Summary: Enables methionine synthase activity. Acts upstream of or within methionine biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including eye; genitourinary system; integumental system; limb; and nervous system. Human ortholog(s) of this gene implicated in several diseases, including IgA glomerulonephritis; autistic disorder; hematologic cancer (multiple); hyperhomocysteinemia; and methylmalonic aciduria and homocystinuria type cblG. Orthologous to human MTR (5-methyltetrahydrofolate-homocysteine methyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 14.2), limb E14.5 (RPKM 5.2) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A1; 13 4.52 cM

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (12196217..12273090, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (12181331..12258199, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency.
Title: Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency.
Deficiency of either MS or folate produces oxidative stress and endothelial dysfunction in the cerebral microcirculation of mice.
Title: Cerebral vascular dysfunction in methionine synthase-deficient mice.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mtr (e-PCR), detects polymorphism
- UniSTS:546874

AI894170 (e-PCR)
- UniSTS:178752

Mtr (e-PCR), detects polymorphism
- UniSTS:256374

X83320 (e-PCR), detects polymorphism
- UniSTS:143040

Mtr (e-PCR), detects polymorphism
- UniSTS:526050

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amino acid binding	ISO Inferred from Sequence Orthology more info
enables cobalamin binding	IEA Inferred from Electronic Annotation more info
enables folic acid binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methionine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methionine synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables methionine synthase activity	ISO Inferred from Sequence Orthology more info
enables methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within amino acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in axon regeneration	ISO Inferred from Sequence Orthology more info
involved_in cellular metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitric oxide	ISO Inferred from Sequence Orthology more info
involved_in cobalamin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin metabolic 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	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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_or_within methylation	IEA Inferred from Electronic Annotation more info
involved_in pteridine-containing compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	ISO Inferred from Sequence Orthology more info
involved_in tetrahydrofolate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrofolate metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: methionine synthase

Names: cobalamin-dependent methionine synthase; vitamin-B12 dependent methionine synthase

NP_001074597.1

EC 2.1.1.13

XP_006516724.1

EC 2.1.1.13

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_001081128.3 → NP_001074597.1 methionine synthase

See identical proteins and their annotated locations for NP_001074597.1

Status: VALIDATED

Source sequence(s)

AI894170, BB630813, BC145683

Consensus CDS

CCDS36591.1

UniProtKB/Swiss-Prot

A6H5Y3, Q3UQP2

Related

ENSMUSP00000097442.5, ENSMUST00000099856.6

Conserved Domains (1) summary

PRK09490
Location:1 → 1249

metH; B12-dependent methionine synthase; Provisional

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

12196217..12273090 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516661.4 → XP_006516724.1 methionine synthase isoform X1

Conserved Domains (1) summary

PRK09490
Location:1 → 995

metH; B12-dependent methionine synthase; Provisional