Mus musculus Gene: Mtr
Summary
InnateDB Gene IDBG-129798.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mtr
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000021311
Encoded Proteins
5-methyltetrahydrofolate-homocysteine methyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000116984:
MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. [provided by RefSeq, Jul 2008]
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:12186542-12258113
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000099856 ENSMUSP00000097442
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008270 zinc ion binding
GO:0008705 methionine synthase activity
GO:0008898 S-adenosylmethionine-homocysteine S-methyltransferase activity
GO:0031419 cobalamin binding
GO:0046872 metal ion binding
Biological Process
GO:0009086 methionine biosynthetic process
GO:0032259 methylation
GO:0042558 pteridine-containing compound metabolic process
GO:0044237 cellular metabolic process
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Phase II conjugation pathway
Metabolism pathway
Methylation pathway
Metabolism of amino acids and derivatives pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Sulfur amino acid metabolism pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of vitamins and cofactors pathway
Biological oxidations pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
One carbon pool by folate pathway
Selenocompound metabolism pathway
Cysteine and methionine metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Sulfur amino acid metabolism pathway
Methylation pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Metabolism of amino acids and derivatives pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Phase II conjugation pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Biological oxidations pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
One carbon pool by folate pathway
Selenocompound metabolism pathway
Cysteine and methionine metabolism pathway
INOH
Folate metabolism pathway
Methionine Cysteine metabolism pathway
PID NCI
Cross-References
SwissProt A6H5Y3
TrEMBL
UniProt Splice Variant
Entrez Gene 238505
UniGene Mm.40335 Mm.490157
RefSeq NM_001081128 XM_006516662
OMIM
CCDS CCDS36591
HPRD
IMGT
MGI ID MGI:894292
MGI Symbol Mtr
EMBL AK142258 BC145683 BC145685
GenPept AAI45684 AAI45686 BAE24997
RNA Seq Atlas 238505