InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MTR

Summary

InnateDB Gene

IDBG-107637.6

Last Modified

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

Gene Symbol

MTR

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Synonyms

cblG; HMAG; MS

Species

Homo sapiens

Ensembl Gene

ENSG00000116984

Encoded Proteins

IDBP-107639

5-methyltetrahydrofolate-homocysteine methyltransferase

IDBP-107641

5-methyltetrahydrofolate-homocysteine methyltransferase

IDBP-598637

5-methyltetrahydrofolate-homocysteine methyltransferase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. [provided by RefSeq, Jul 2008]
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:236795281-236903981

Strand

Forward strand

Band

q43

Transcripts

ENST00000366577	ENSP00000355536
ENST00000366576	ENSP00000355535
ENST00000463959
ENST00000470570
ENST00000535889	ENSP00000441845

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