Homo sapiens Gene: MTR
Summary
InnateDB Gene IDBG-107637.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTR
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase
Synonyms cblG; HMAG; MS;
Species Homo sapiens
Ensembl Gene ENSG00000116984
Encoded Proteins
5-methyltetrahydrofolate-homocysteine methyltransferase
5-methyltetrahydrofolate-homocysteine methyltransferase
5-methyltetrahydrofolate-homocysteine methyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 1:236795281-236903981
Strand Forward strand
Band q43
Transcripts
ENST00000366577 ENSP00000355536
ENST00000366576 ENSP00000355535
ENST00000463959
ENST00000470570
ENST00000535889 ENSP00000441845
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
Experimentally validated
Total 19 [view]
Protein-Protein 16 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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:0000096 sulfur amino acid metabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006805 xenobiotic metabolic process
GO:0007399 nervous system development
GO:0009086 methionine biosynthetic process
GO:0009235 cobalamin metabolic process
GO:0032259 methylation
GO:0034641 cellular nitrogen compound metabolic process
GO:0042558 pteridine-containing compound metabolic process
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005622 intracellular
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
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
Methylation 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
Sulfur amino acid 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
Cysteine and methionine metabolism pathway
Selenocompound metabolism pathway
One carbon pool by folate pathway
INOH
Methionine Cysteine metabolism pathway
Folate metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q99707
TrEMBL B1ANE3 B7ZLW7
UniProt Splice Variant
Entrez Gene 4548
UniGene Hs.498187 Hs.605062 Hs.708301 Hs.709036
RefSeq NM_000254 NM_001291939 XM_005273141 XM_005273143 XM_005273145 XM_006711770
HUGO HGNC:7468
OMIM 156570
CCDS CCDS1614 CCDS73054
HPRD
IMGT
EMBL AL359185 AL359259 BC130616 BC136440 BC144095 CH471098 U71285 U73338 U75743
GenPept AAB39704 AAB58906 AAC51188 AAI30617 AAI36441 AAI44096 CAH70983 CAH73198 EAW70066
RNA Seq Atlas 4548