InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTR

Summary

InnateDB Protein

IDBP-107639.6

Last Modified

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

Gene Symbol

MTR

Protein Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

cblG; HMAG; MS;

Species

Homo sapiens

Ensembl Protein

ENSP00000355536

InnateDB Gene

IDBG-107637 (MTR)

Protein Structure

UniProt Annotation

Function

Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm.

Disease Associations

Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]: 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. {ECO:0000269PubMed:8968736, ECO:0000269PubMed:8968737}. 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:12375236}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta. Expressed at lower levels in lung, liver and kidney.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000489 Pterin-binding
IPR003726 Homocysteine S-methyltransferase
IPR003759 Cobalamin (vitamin B12)-binding module, cap domain
IPR004223 Vitamin B12-dependent methionine synthase, activation domain
IPR006158 Cobalamin (vitamin B12)-binding domain
IPR011005 Dihydropteroate synthase-like
IPR011822 Cobalamin-dependent methionine synthase

PFAM

PF00809
PF02574
PF02607
PF02965
PF02310

PRINTS

PIRSF

PIRSF000381

SMART

SM01018

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt