InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTRR

Summary

InnateDB Protein

IDBP-362093.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTRR

Protein Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

cblE; MSR;

Species

Homo sapiens

Ensembl Protein

ENSP00000402510

InnateDB Gene

IDBG-12013 (MTRR)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Isoform B: Cytoplasm.Isoform C: Cytoplasm.Isoform A: Cytoplasm {ECO:0000269PubMed:18221906}.

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.

Tissue Specificity

Found in all tissues tested, particularly abundant in skeletal muscle.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001094 Flavodoxin
IPR001433 Oxidoreductase FAD/NAD(P)-binding
IPR001709 Flavoprotein pyridine nucleotide cytochrome reductase
IPR003097 FAD-binding, type 1
IPR008254 Flavodoxin/nitric oxide synthase
IPR017938 Riboflavin synthase-like beta-barrel
IPR029039 Flavoprotein-like

PFAM

PF00175
PF00667
PF00258

PRINTS

PR00369
PR00371

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UBK8