Homo sapiens Gene: MTRR
Summary
InnateDB Gene IDBG-12013.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTRR
Gene Name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Synonyms cblE; MSR;
Species Homo sapiens
Ensembl Gene ENSG00000124275
Encoded Proteins
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:7851186-7906025
Strand Forward strand
Band p15.31
Transcripts
ENST00000264668 ENSP00000264668
ENST00000440940 ENSP00000402510
ENST00000507837
ENST00000502509
ENST00000511639
ENST00000513439 ENSP00000426710
ENST00000511461 ENSP00000424719
ENST00000510279 ENSP00000427200
ENST00000514220 ENSP00000423863
ENST00000508047 ENSP00000423139
ENST00000503550 ENSP00000424644
ENST00000514369 ENSP00000426132
ENST00000502550 ENSP00000424599
ENST00000506877 ENSP00000427416
ENST00000512217 ENSP00000421318
ENST00000510525 ENSP00000421991
ENST00000508890
ENST00000508101
ENST00000509961
ENST00000512311
ENST00000507414
ENST00000507202
ENST00000508354
ENST00000506115
ENST00000509379
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0010181 FMN binding
GO:0016491 oxidoreductase activity
GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
GO:0016723 oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor
GO:0030586 [methionine synthase] reductase activity
GO:0050660 flavin adenine dinucleotide binding
GO:0050661 NADP binding
Biological Process
GO:0000096 sulfur amino acid metabolic process
GO:0006306 DNA methylation
GO:0006555 methionine metabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006805 xenobiotic metabolic process
GO:0009086 methionine biosynthetic process
GO:0009235 cobalamin metabolic process
GO:0032259 methylation
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0046655 folic acid metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0045111 intermediate filament cytoskeleton
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
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL D6RIS8
UniProt Splice Variant
Entrez Gene 4552
UniGene Hs.481551
RefSeq NM_024010 NM_002454 XM_006714474
HUGO HGNC:7473
OMIM 602568
CCDS CCDS3874 CCDS47190
HPRD 03979
IMGT
EMBL AC010346 AC025174
GenPept
RNA Seq Atlas 4552