Species

Homo sapiens

Symbol

MTRR

Name

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Synonyms

[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)
aqCbl reductase

Biotype

protein coding gene

Automated Description

Enables NADPH-hemoprotein reductase activity; [methionine synthase] reductase (NADPH) activity; and nucleotide binding activity. Involved in folic acid metabolic process; negative regulation of cystathionine beta-synthase activity; and sulfur amino acid metabolic process. Located in intermediate filament cytoskeleton and nucleoplasm. Is active in cytosol. Implicated in several diseases, including abdominal aortic aneurysm; endocrine gland cancer (multiple); heart disease (multiple); hematologic cancer (multiple); and homocystinuria.

RGD Description

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR19384

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr5:7850859...7906025 + (55.17 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

MTRR molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

MTRR role	MTRR genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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