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Aliases for MTRR Gene

Aliases for MTRR Gene

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

External Ids for MTRR Gene

Previous GeneCards Identifiers for MTRR Gene

  • GC05P008057
  • GC05P007901
  • GC05P007921
  • GC05P007922

Summaries for MTRR Gene

Entrez Gene Summary for MTRR Gene

  • 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]

GeneCards Summary for MTRR Gene

MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase) is a Protein Coding gene. Diseases associated with MTRR include homocystinuria-megaloblastic anemia, cbl e type and neural tube defects, folate-sensitive. Among its related pathways are One carbon pool by folate and Phase II conjugation. GO annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide 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

Regulatory Elements for MTRR Gene

Enhancers for MTRR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MTRR on UCSC Golden Path with GeneCards custom track

Promoters for MTRR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTRR on UCSC Golden Path with GeneCards custom track

Genomic Location for MTRR Gene

Chromosome:
5
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

Genes around MTRR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTRR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTRR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MTRR

No data available for DME Specific Peptides for MTRR Gene

Domains & Families for MTRR Gene

Suggested Antigen Peptide Sequences for MTRR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBK8

UniProtKB/Swiss-Prot:

MTRR_HUMAN :
  • Contains 1 FAD-binding FR-type domain.
Domain:
  • Contains 1 FAD-binding FR-type domain.
  • Contains 1 flavodoxin-like domain.
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:0005515 protein binding IPI 25416956
GO:0050660 flavin adenine dinucleotide binding TAS 9501215
GO:0071949 FAD binding IDA 11466310
genes like me logo Genes that share ontologies with MTRR: view
genes like me logo Genes that share phenotypes with MTRR: view

Human Phenotype Ontology for MTRR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MTRR Gene

miRTarBase miRNAs that target MTRR

No data available for Animal Models , Transcription Factor Targets 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
cytoskeleton 5
cytosol 5
nucleus 5
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MTRR Gene

Pathways & Interactions for MTRR Gene

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:0006766 vitamin metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0009235 cobalamin metabolic process TAS --
GO:0043418 homocysteine catabolic process IDA 11466310
genes like me logo Genes that share ontologies with MTRR: view

No data available for SIGNOR curated interactions for MTRR Gene

Drugs & Compounds for MTRR Gene

(23) Drugs for MTRR Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other 234
Cyanocobalamin Approved Nutra Target, cofactor 234
L-Methionine Approved Nutra Target, product of 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR, Cytotoxic agent 1466
S-Adenosylmethionine Approved Nutra 0

(16) Additional Compounds for MTRR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cob(ii)alamin
  • Co(I)-Cobalamine
  • Cob(2)alamin
  • Cob(II)alamin
  • Cobinamide-Co(1+)
  • Vitamin B12r
14463-33-3
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Cob(I)alamin
  • Cob(I)alamin
  • Cyanocobalamin
  • Hydrido-Cobalamin
  • Hydridocobalamin
  • Vitamin B12s
18534-66-2
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
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

Protein differential expression in normal tissues from HIPED for MTRR Gene

This gene is overexpressed in Adrenal (59.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MTRR: view

Protein tissue co-expression partners for MTRR Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MTRR Gene

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
cow
(Bos Taurus)
Mammalia MTRR 35
  • 81.39 (n)
  • 80.86 (a)
MTRR 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTRR 35
  • 84.36 (n)
  • 83.93 (a)
MTRR 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtrr 35
  • 78.88 (n)
  • 78.74 (a)
Mtrr 16
Mtrr 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTRR 35
  • 99.03 (n)
  • 98.48 (a)
MTRR 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtrr 35
  • 80.18 (n)
  • 81.3 (a)
oppossum
(Monodelphis domestica)
Mammalia MTRR 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTRR 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTRR 35
  • 66.52 (n)
  • 61.42 (a)
MTRR 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTRR 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrr 35
  • 59.62 (n)
  • 58.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9723 35
zebrafish
(Danio rerio)
Actinopterygii mtrr 35
  • 58.49 (n)
  • 56.02 (a)
mtrr 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14882 37
  • 31 (a)
CG14882 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mtrr-1 35
  • 44.58 (n)
  • 34.04 (a)
mtrr-1 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

Sequence variations from dbSNP and Humsavar for MTRR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_012836 -
VAR_012838 Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
VAR_012839 Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
rs10064631 - 7,885,794(+) TGCAG(A/C/G)TTGAA nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_012841 Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)

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

Variation tolerance for MTRR Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.52; 97.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTRR Gene

HapMap Linkage Disequilibrium report
MTRR
Human Gene Mutation Database (HGMD)
MTRR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTRR Gene

Disorders for MTRR Gene

MalaCards: The human disease database

(16) MalaCards diseases for MTRR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
homocystinuria-megaloblastic anemia, cbl e type
  • homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
neural tube defects, folate-sensitive
  • neural tube defects
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  • homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type
disorders of intracellular cobalamin metabolism
homocystinuria
  • cbs deficiency
- elite association - COSMIC cancer census association via MalaCards
Search MTRR in MalaCards View complete list of genes associated with diseases

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.
  • Neural tube defects, folate-sensitive (NTDFS) [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.

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

Genetic Association Database (GAD)
MTRR
Human Genome Epidemiology (HuGE) Navigator
MTRR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 26 48 67
  2. 2756GG genotype of methionine synthase reductase gene is more prevalent in rheumatoid arthritis patients treated with methotrexate and is associated with methotrexate-induced nodulosis. (PMID: 17611986) Berkun Y. … Ben-Yehuda A. (J. Rheumatol. 2007) 3 23 25 26
  3. Detection of MTRR 66A-->G polymorphism using the real-time polymerase chain reaction machine LightCycler for determination of composition of allele after restriction cleavage. (PMID: 17101561) Tvedegaard K.C. … ller J. (Scand. J. Clin. Lab. Invest. 2006) 3 23 25 26
  4. 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 26
  5. Methionine synthase reductase polymorphisms are associated with serum osteocalcin levels in postmenopausal women. (PMID: 17079868) Kim D.J. … Kim S.Y. (Exp. Mol. Med. 2006) 3 23 25 26

Products for MTRR Gene

Sources for MTRR Gene

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