MTR: Polycystic Ovarian Syndrome Database

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MTR

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

MTR

Aliases

HMAG, MS, cblG

Entrez Gene ID

4548

Gene Name

5-methyltetrahydrofolate-homocysteine methyltransferase

Chromosomal Location

1q43

HGNC ID

HGNC:7468

Summary

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]

RefSeq DNA

NG_008959.1

RefSeq mRNA

NM_000254.2, NM_001291939.1, NM_001291940.2

e!Ensembl

Gene	ENSG00000116984
Transcript	ENST00000366577, ENST00000650888, ENST00000535889, ENST00000651455, ENST00000366576
Protein	ENSP00000355536, ENSP00000498393, ENSP00000441845, ENSP00000498963, ENSP00000355535

Gene Ontology (GO)

Show/Hide all(8 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007399	Biological process	Nervous system development	TAS	8968737
GO:0009086	Biological process	Methionine biosynthetic process	IMP	23825108
GO:0009235	Biological process	Cobalamin metabolic process	IMP	23825108
GO:0005829	Cellular component	Cytosol	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	17288554, 23825108
GO:0008705	Molecular function	Methionine synthase activity	IBA	21873635
GO:0008705	Molecular function	Methionine synthase activity	IDA	16769880
GO:0008705	Molecular function	Methionine synthase activity	IMP	23825108

Protein Information

Protein Name

Methionine synthase, 5-methyltetrahydrofolate-homocysteine methyltransferase 1, cobalamin-dependent methionine synthase, vitamin-B12 dependent methionine synthase

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).

Refseq Proteins

NP_000245.2, NP_001278868.1, NP_001278869.1

UniProt

Q99707

PDB

2O2K, 4CCZ

Pfam

Pfam Accession	Pfam ID
PF02310	B12-binding
PF02607	B12-binding_2
PF02965	Met_synt_B12
PF00809	Pterin_bind
PF02574	S-methyl_trans

Pathways
	KEGG	Reactome
	Cysteine and methionine metabolism Selenocompound metabolism One carbon pool by folate Metabolic pathways Biosynthesis of amino acids	Methylation Sulfur amino acid metabolism Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

Interactions

STRING	MINT	IntAct
ENSP00000231509	P04150	P04150

View interactions

Associated Diseases

Show/Hide all(10 )

Disease group	Disease Name	References
Blood Disorders
Blood Disorders	Hematological Disease	19159907
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Cleft palate	21254359
	Cleft upper lip	21254359
Digestive System Diseases
	Cholera Infantum	19159907
	Gastrointestinal Diseases	19159907
Ear Or Mastoid Diseases
Ear Or Mastoid Diseases	Meniere Disease	28787010
Endocrine System Diseases
Endocrine System Diseases	PCOS	18281142
Neoplasms
	Breast Cancer	17595805
	Lymphoma	16799656, 16410450
Nervous System Diseases
	Leukoencephalopathies	15753437
	Childhood Ataxia with Central Nervous System Hypomyelinization	15753437
Nutritional and Metabolic Diseases
	Methylcobalamin Deficiency	12068375, 9683607, 23891399, 8968737, 8968736
	Malnutrition	16709328
Psychiatric/Brain disorders
	Bipolar Disorder	17417062
	Mental Depression	3425320, 18801628
	Schizophrenia	17417062
	Intellectual Disability	25558065
Reproductive disorders
	Male infertility	16861746
	Preeclampsia	25801727, 27806663

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
18281142		Cardiovascular disease	SNP in the MTR gene (MTR 2756A>G)		Related	Caucasian and South Asian-71 women	Plasma Hcy levels were significantly higher in women with PCOS compared with non-PCOS controls (p=0.05) and in Caucasian women with PCOS compared with Caucasian controls (p=0.04) in the presence of the MTR 2756 AA genotype (wild type).

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