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Aliases for MTRR Gene

Aliases for MTRR Gene

  • 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase 2 3
  • MSR 3 4
  • [Methionine Synthase]-Cobalamin Methyltransferase (Cob(II)Alamin Reducing) 3
  • Methionine Synthase Reductase, Mitochondrial 3
  • Methionine Synthase Reductase 3
  • EC 1.16.1.8 4
  • CblE 3

External Ids for MTRR Gene

Summaries for MTRR Gene

Entrez Gene Summary for MTRR Gene

  • Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTRR Gene

MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase) is a Protein Coding gene. Diseases associated with MTRR include disorders of intracellular cobalamin metabolism and homocystinuria-megaloblastic anemia, cbl e type. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include iron ion binding and NADP binding. An important paralog of this gene is NOS1.

UniProtKB/Swiss-Prot for MTRR Gene

  • 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.

Gene Wiki entry for MTRR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTRR Gene

Genomics for MTRR Gene

Genomic Location for MTRR Gene

Start:
7,851,186 bp from pter
End:
7,906,025 bp from pter
Size:
54,840 bases
Orientation:
Plus strand

Genomic View for MTRR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTRR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTRR Gene

Regulatory Elements for MTRR Gene

Proteins for MTRR Gene

  • Protein details for MTRR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBK8-MTRR_HUMAN
    Recommended name:
    Methionine synthase reductase
    Protein Accession:
    Q9UBK8
    Secondary Accessions:
    • O60471
    • Q32MA9
    • Q7Z4M8

    Protein attributes for MTRR Gene

    Size:
    725 amino acids
    Molecular mass:
    80410 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MTRR Gene

    Alternative splice isoforms for MTRR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTRR Gene

Proteomics data for MTRR Gene at MOPED

Post-translational modifications for MTRR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTRR Gene

Domains for MTRR Gene

UniProtKB/Swiss-Prot:

MTRR_HUMAN
Domain:
  • Contains 1 FAD-binding FR-type domain.:
    • Q9UBK8
  • Contains 1 flavodoxin-like domain.:
    • Q9UBK8
genes like me logo Genes that share domains with MTRR: view

No data available for Gene Families for MTRR Gene

Function for MTRR Gene

Molecular function for MTRR Gene

GENATLAS Biochemistry: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase,77kDa,sulfur aminoacid metabolism,with homology to cytochrome p450 reductase and C elegans methionine synthase reductase,activating cobalamin-dependent methionine synthase,risk factor for neural tube defect (combined with low cobalamin)
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=2.89 uM for NADPH {ECO:0000269 PubMed:17892308}; KM=3540 uM for NADH {ECO:0000269 PubMed:17892308};
UniProtKB/Swiss-Prot CatalyticActivity: 2 [methionine synthase]-methylcob(I)alamin + 2 S-adenosylhomocysteine + NADP(+) = 2 [methionine synthase]-cob(II)alamin + NADPH + 2 S-adenosyl-L-methionine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MTRR Gene

Gene Ontology (GO) - Molecular Function for MTRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003958 NADPH-hemoprotein reductase activity IDA 11466310
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0010181 FMN binding TAS 9501215
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with MTRR: view

Phenotypes for MTRR Gene

genes like me logo Genes that share phenotypes with MTRR: view

miRNA for MTRR Gene

miRTarBase miRNAs that target MTRR

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MTRR Gene

Localization for MTRR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTRR Gene

Isoform B: Cytoplasm.
Isoform C: Cytoplasm.
Isoform A: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTRR Gene COMPARTMENTS Subcellular localization image for MTRR gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 4
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MTRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS 9501215
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with MTRR: view

Pathways for MTRR Gene

SuperPathways for MTRR Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 One carbon pool by folate
3 Biological oxidations
4 Folate Metabolism
5 Disease
genes like me logo Genes that share pathways with MTRR: view

Gene Ontology (GO) - Biological Process for MTRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006306 DNA methylation ISS --
GO:0006555 methionine metabolic process TAS 9501215
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with MTRR: view

Compounds for MTRR Gene

(9) HMDB Compounds for MTRR Gene

Compound Synonyms Cas Number PubMed IDs
Cob(I)alamin
  • Vitamin B12s
18534-66-2
Cob(II)alamin
  • Vitamin B12r
14463-33-3
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Flavin Mononucleotide
  • FMN
146-17-8

(3) Drugbank Compounds for MTRR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyanocobalamin
  • Cyanocob(III)alamin
68-19-9 target cofactor
Hydroxocobalamin
  • Hydroxomin
13422-51-0 target other
L-Methionine
  • (S)-2-amino-4-(methylthio)butanoic acid
63-68-3 target product of

(29) Novoseek inferred chemical compound relationships for MTRR Gene

Compound -log(P) Hits PubMed IDs
methionine 91 161
folate 88.9 58
homocysteine 87.9 62
cob(ii)alamin 85.7 15
cystathionine 85.3 17

(3) PharmGKB related drug/compound annotations for MTRR Gene

Drug/compound Annotation
"vitamin b-complex, plain" CA
folic acid CA
methotrexate CA
genes like me logo Genes that share compounds with MTRR: view

Transcripts for MTRR Gene

Unigene Clusters for MTRR Gene

5-methyltetrahydrofolate-homocysteine methyltransferase reductase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTRR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - -
SP10: - -
SP11: -
SP12: -
SP13: - - -
SP14: - -

ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for MTRR Gene

GeneLoc Exon Structure for
MTRR
ECgene alternative splicing isoforms for
MTRR

Expression for MTRR Gene

mRNA expression in normal human tissues for MTRR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTRR Gene

SOURCE GeneReport for Unigene cluster for MTRR Gene Hs.481551

mRNA Expression by UniProt/SwissProt for MTRR Gene

Q9UBK8-MTRR_HUMAN
Tissue specificity: Found in all tissues tested, particularly abundant in skeletal muscle
genes like me logo Genes that share expressions with MTRR: view

Orthologs for MTRR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTRR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTRR 36
  • 99.03 (n)
  • 98.48 (a)
MTRR 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTRR 36
  • 81.39 (n)
  • 80.86 (a)
MTRR 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTRR 36
  • 84.36 (n)
  • 83.93 (a)
MTRR 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtrr 36
  • 78.88 (n)
  • 78.74 (a)
Mtrr 16
Mtrr 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTRR 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTRR 37
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtrr 36
  • 80.18 (n)
  • 81.3 (a)
chicken
(Gallus gallus)
Aves MTRR 36
  • 66.52 (n)
  • 61.42 (a)
MTRR 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTRR 37
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9723 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrr 36
  • 59.62 (n)
  • 58.08 (a)
zebrafish
(Danio rerio)
Actinopterygii mtrr 36
  • 58.49 (n)
  • 56.02 (a)
mtrr 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14882 37
  • 30 (a)
OneToOne
CG14882 38
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea mtrr-1 36
  • 44.58 (n)
  • 34.04 (a)
mtrr-1 37
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 39 (a)
OneToOne
Species with no ortholog for MTRR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTRR Gene

ENSEMBL:
Gene Tree for MTRR (if available)
TreeFam:
Gene Tree for MTRR (if available)

Paralogs for MTRR Gene

Paralogs for MTRR Gene

Pseudogenes.org Pseudogenes for MTRR Gene

genes like me logo Genes that share paralogs with MTRR: view

Variants for MTRR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MTRR Gene

Q9UBK8-MTRR_HUMAN
Variant Met-49 has been associated with an increased risk for spina bifida and may be associated with chromosomal non-disjunction and Down syndrome

Sequence variations from dbSNP and Humsavar for MTRR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs8659 -- 7,900,720(+) TTTTT(A/T)AAGTC utr-variant-3-prime, nc-transcript-variant
rs9218 -- 7,900,437(+) GACTT(A/G)CAGTG utr-variant-3-prime, nc-transcript-variant
rs9332 -- 7,900,599(-) TTTAT(C/T)AGAAA utr-variant-3-prime, nc-transcript-variant
rs10380 Uncertain significance, - 7,897,078(+) TCAGA(C/T)ATTTC reference, missense, downstream-variant-500B, nc-transcript-variant
rs12347 Benign 7,897,170(-) TCTTG(A/C/T)ACATA synonymous-codon, reference, downstream-variant-500B, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for MTRR Gene

Variant ID Type Subtype PubMed ID
esv2729709 CNV Deletion 23290073
esv2663385 CNV Deletion 23128226
esv2729710 CNV Deletion 23290073
dgv334n21 CNV Gain 19592680
nsv508345 CNV Loss 20534489
nsv4705 CNV Insertion 18451855

Relevant External Links for MTRR Gene

HapMap Linkage Disequilibrium report
MTRR
Human Gene Mutation Database (HGMD)
MTRR
Locus Specific Mutation Databases (LSDB)
MTRR

Disorders for MTRR Gene

(2) OMIM Diseases for MTRR Gene (602568)

UniProtKB/Swiss-Prot

MTRR_HUMAN
  • 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:0000269 PubMed:10484769, ECO:0000269 PubMed: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:0000269 PubMed:10444342, ECO:0000269 PubMed:12375236}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for MTRR Gene

(17) Novoseek inferred disease relationships for MTRR Gene

Disease -log(P) Hits PubMed IDs
hyperhomocysteinemia 84.3 7
neural tube defects 77.4 9
homocystinuria 73.1 10
anemia megaloblastic 70.4 2
spina bifida 60.3 6

Genatlas disease for MTRR Gene

megaloblastic anemia,developmental delay,hyperhomocysteinemia and hypomathioninemia,cblE complementation group of disorders in folate/cobalamin metabolism

Relevant External Links for MTRR

GeneTests
MTRR
GeneReviews
MTRR
Genetic Association Database (GAD)
MTRR
Human Genome Epidemiology (HuGE) Navigator
MTRR
genes like me logo Genes that share disorders with MTRR: view

Publications for MTRR Gene

  1. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. (PMID: 15979034) O'Leary V.B. … Brody L.C. (Mol. Genet. Metab. 2005) 3 4 23 25 49
  2. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. (PMID: 9501215) Leclerc D. … Gravel R.A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  3. Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population. (PMID: 16268464) GuAcant-Rodriguez R.M. … GueA!nt J.L. (Thromb. Haemost. 2005) 3 23 25 49
  4. Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients. (PMID: 15612980) Miriuka S.G. … Cole D.E. (Transpl. Int. 2005) 3 23 25 49
  5. The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida. (PMID: 17024475) van der Linden I.J. … Blom H.J. (J. Mol. Med. 2006) 3 23 25 49

Products for MTRR Gene

Sources for MTRR Gene

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