Homo sapiens Gene: MTRR | |||||||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||
Genomic Location | Chromosome 5:7851186-7906025 | ||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||
Band | p15.31 | ||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||
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
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KEGG | |||||||||||||||||||||||||||
INOH | |||||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||
TrEMBL | D6RIS8 | ||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 4552 | ||||||||||||||||||||||||||
UniGene | Hs.481551 | ||||||||||||||||||||||||||
RefSeq | NM_002454 NM_024010 XM_006714474 | ||||||||||||||||||||||||||
HUGO | HGNC:7473 | ||||||||||||||||||||||||||
OMIM | 602568 | ||||||||||||||||||||||||||
CCDS | CCDS3874 CCDS47190 | ||||||||||||||||||||||||||
HPRD | 03979 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AC010346 AC025174 | ||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||
RNA Seq Atlas | 4552 | ||||||||||||||||||||||||||