InnateDB Protein
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IDBP-480319.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MTRR
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Protein Name
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5-methyltetrahydrofolate-homocysteine methyltransferase reductase
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Synonyms
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cblE; MSR;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000426132
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InnateDB Gene
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IDBG-12013 (MTRR)
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Protein Structure
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Function |
Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects. {ECO:0000269PubMed:17892308}.
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Subcellular Localization |
Isoform B: Cytoplasm.Isoform C: Cytoplasm.Isoform A: Cytoplasm {ECO:0000269PubMed:18221906}.
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Disease Associations |
Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. {ECO:0000269PubMed:10484769, ECO:0000269PubMed:9501215}. Note=The disease is caused by mutations affecting the gene represented in this entry.Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269PubMed:10444342, ECO:0000269PubMed:12375236}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Found in all tissues tested, particularly abundant in skeletal muscle.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005506
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iron ion binding
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GO:0010181
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FMN binding
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GO:0016491
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oxidoreductase activity
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GO:0016709
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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
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GO:0016723
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oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor
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GO:0030586
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[methionine synthase] reductase activity
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GO:0050660
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flavin adenine dinucleotide binding
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GO:0050661
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NADP binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008254
Flavodoxin/nitric oxide synthase
IPR029039
Flavoprotein-like
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PFAM |
PF00258
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UBK8
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PhosphoSite |
PhosphoSite-Q9UBK8
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TrEMBL |
D6RIS8
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UniProt Splice Variant |
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Entrez Gene |
4552
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UniGene |
Hs.481551
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RefSeq |
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HUGO |
HGNC:7473
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OMIM |
602568
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CCDS |
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HPRD |
03979
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IMGT |
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EMBL |
AC010346
AC025174
AF025794
AF121202
AF121203
AF121204
AF121205
AF121206
AF121207
AF121208
AF121209
AF121210
AF121211
AF121212
AF121213
AF121214
BC054816
BC109216
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GenPept |
AAC39667
AAF16876
AAF17303
AAF17304
AAH54816
AAI09217
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