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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTR Gene

protein-coding   GIFtS: 71
GCID: GC01P236958

5-Methyltetrahydrofolate-Homocysteine Methyltransferase

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
5-Methyltetrahydrofolate-Homocysteine Methyltransferase1 2     HMAG2
Vitamin-B12 Dependent Methionine Synthase2 3     cblG2
MS2 3     Cobalamin-Dependent Methionine Synthase2
EC 2.1.1.133 8     Methionine Synthase2
5-Methyltetrahydrofolate-Homocysteine Methyltransferase 12     5-Methyltetrahydrofolate--Homocysteine Methyltransferase3

External Ids:    HGNC: 74681   Entrez Gene: 45482   Ensembl: ENSG000001169847   OMIM: 1565705   UniProtKB: Q997073   

Export aliases for MTR gene to outside databases

Previous GC identifers: GC01P235091 GC01P232412 GC01P233255 GC01P233999 GC01P233284 GC01P235025 GC01P207414


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTR Gene:
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)

GeneCards Summary for MTR Gene: 
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) is a protein-coding gene. Diseases associated with MTR include cblg, and vitamin b12 deficiency, and among its related super-pathways are Cysteine and methionine metabolism and One carbon pool by folate. GO annotations related to this gene include cobalamin binding and methionine synthase activity.

UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
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)

Gene Wiki entry for MTR (Methionine synthase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTR gene promoter:
         Spz1   Sox5   Sp1   GATA-3   NCX/Ncx   CUTL1   Tal-1beta   LCR-F1   GATA-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTR promoter sequence
   Search SABiosciences Chromatin IP Primers for MTR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q43

MTR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTR gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P236958:  view genomic region     (about GC identifiers)

Start:
236,958,581 bp from pter      End:
237,067,281 bp from pter
Size:
108,701 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: METH_HUMAN, Q99707 (See protein sequence)
Recommended Name: Methionine synthase  
Size: 1265 amino acids; 140527 Da
Cofactor: Methylcobalamin (MeCBL)
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Cytoplasm
Miscellaneous: L-homocysteine is bound via the zinc atom (By similarity)
1 PDB 3D structure from and Proteopedia for MTR:
2O2K (3D)    
Secondary accessions: A1L4N8 A9Z1W4 B9EGF7 Q99713 Q99723

Explore the universe of human proteins at neXtProt for MTR: NX_Q99707

Explore proteomics data for MTR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99707

  • 4/27 DME Specific Peptides for MTR (Q99707) (see all 27)
     PNAGLPN  VAKEMER  VVMAFDE  DYLGLFA 

    MTR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTR Protein Expression
    REFSEQ proteins: NP_000245.2  
    ENSEMBL proteins: 
     ENSP00000355536   ENSP00000355535   ENSP00000402255   ENSP00000441845  
    Reactome Protein details: Q99707
    Human Recombinant Protein Products for MTR: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTR 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    MTR for ontologies           About GeneDecksing



    MTR Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTR 
    Cloud-Clone Corp. CLIAs for MTR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR004223 VitB12-dep_Met_synth_activ_dom
     IPR003759 Cbl-bd_cap
     IPR011822 MetH
     IPR003726 S_MeTrfase
     IPR011005 Dihydropteroate_synth-like

    Graphical View of Domain Structure for InterPro Entry Q99707

    ProtoNet protein and cluster: Q99707

    3 Blocks protein domains:
    IPB003726 Homocysteine S-methyltransferase
    IPB004223 Vitamin B12 dependent methionine synthase activation domain
    IPB006158 Coenzyme B12-binding


    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
    Domain: Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyl
    transfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-binding
    domain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine.
    The B12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under
    aerobic conditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by
    S-adenosyl-L-methionine and flavodoxin regenerates methylcobalamin (By similarity)
    Similarity: Belongs to the vitamin-B12 dependent methionine synthase family
    Similarity: Contains 1 AdoMet activation domain
    Similarity: Contains 1 B12-binding domain
    Similarity: Contains 1 B12-binding N-terminal domain
    Similarity: Contains 1 Hcy-binding domain
    Similarity: Contains 1 pterin-binding domain


    MTR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: METH_HUMAN, Q99707
    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)
    Catalytic activity: 5-methyltetrahydrofolate + L-homocysteine = tetrahydrofolate + L-methionine

         Genatlas biochemistry entry for MTR:
    5-methyl tetrahydrofolate (THF),homocysteine methyltransferase,methionine synthase,140kDa,methylcobolamin
    dependent,sulfur aminoacid metabolism,no evidence of association with neural tube defects (NTD) in Netherlands
    and U.K.

         Enzyme Number (IUBMB): EC 2.1.1.131 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
    GO:0008705methionine synthase activity IEA--
    GO:0008898homocysteine S-methyltransferase activity IEA--
    GO:0031419cobalamin binding IEA--
    GO:0046872metal ion binding ----
         
    MTR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MTR:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mtr):
     homeostasis/metabolism  mortality/aging 

    MTR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mtrtm1Lcb for MTR

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MTR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTR 
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    hsa-miR-579 hsa-miR-26a-2* hsa-miR-429 hsa-miR-4272 hsa-miR-371-5p hsa-miR-548m hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMTR 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTR


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MTR About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cysteine and methionine metabolism
    Cysteine and methionine metabolism0.37
    Methionine metabolism0.32
    Sulfur amino acid metabolism0.37
    2One Carbon Metabolism
    One carbon pool by folate0.53
    One Carbon Metabolism0.53
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.87
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.36
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.87
    5Biological oxidations
    Biological oxidations0.55
    Phase II conjugation0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MTR
        Methionine metabolism


    1 GeneGo (Thomson Reuters) Pathway for MTR
        Methionine metabolism

    5/6 BioSystems Pathways for MTR (see all 6)
        One Carbon Metabolism
    Trans-sulfuration pathway
    Selenium Pathway
    folate transformations I
    methionine salvage II (mammalia)

    5/9        Reactome Pathways for MTR (see all 9)
        Metabolism
    Sulfur amino acid metabolism
    Metabolism of vitamins and cofactors
    Methylation
    Biological oxidations

    3 PharmGKB Pathways for MTR
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    5         Kegg Pathways  (Kegg details for MTR):
        Cysteine and methionine metabolism
    Selenocompound metabolism
    One carbon pool by folate
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
    Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine
    (MetH route): step 1/1


    MTR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for MTR (Q997071, 3 ENSP000003555364) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDKN2AP427713, ENSP000003551534I2D: score=1 I2D: score=1 STRING: ENSP00000355153
    TSC22D1Q157141, 3, ENSP000003974354EBI-1045782,EBI-712609 I2D: score=2 STRING: ENSP00000397435
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    MMADHCQ9H3L03, ENSP000003019204I2D: score=5 STRING: ENSP00000301920
    DYNLL1P631673I2D: score=3 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007399nervous system development TAS8968737

    MTR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MTR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTR (METH)

    10/13 HMDB Compounds for MTR (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Methyltetrahydrofolic acid5-Methyl tetrahydrofolate (see all 17)134-35-0--
    Cob(I)alaminVitamin B12s (see all 5)18534-66-2--
    Cob(II)alaminVitamin B12r (see all 5)14463-33-3--
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Homocysteine(+-)-homocysteine (see all 22)454-29-5--
    L-Methionine(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)63-68-3--
    MethylcobalaminAlgobaz (see all 13)13422-55-4--
    Pterin2-Amino-4(1H)-pteridinone (see all 14)2236-60-4--

    4 DrugBank Compounds for MTR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetcofactor7599160 1744096 18565 3812589 9587031
    L-Methionine(S)-2-amino-4-(methylthio)butanoic acid (see all 6)63-68-3targetproduct of17222188 16618098 17615995 16788729 17052662
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor11169015 9398303 9730838 11237340 10978155
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9targetcofactor18709879 19904199

    10/60 Novoseek inferred chemical compound relationships for MTR gene (see all 60)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methionine 95.4 1056 1627355 (8), 1602376 (7), 11371572 (7), 11158293 (6) (see all 99)
    methylcobalamin 93.6 64 8652590 (3), 1748723 (3), 8487649 (3), 1744096 (2) (see all 30)
    5-methyltetrahydrofolate 92.7 50 8005024 (2), 11730351 (2), 8652590 (1), 11237340 (1) (see all 37)
    homocysteine 92.7 260 12482550 (7), 1602376 (5), 8099783 (3), 18281142 (3) (see all 99)
    cobalamin 92.6 97 10377254 (3), 15319544 (3), 11371572 (3), 17477549 (3) (see all 57)
    folate 91.5 205 11257268 (6), 15117811 (3), 18844488 (3), 11371572 (3) (see all 99)
    cystathionine 90.5 65 19094252 (2), 10704624 (2), 17937607 (2), 17726616 (2) (see all 44)
    vitamin b12 89.5 76 10780318 (3), 9453374 (2), 19838916 (2), 19339913 (2) (see all 59)
    cob(ii)alamin 88.8 12 19243433 (1), 9730838 (1), 14717604 (1), 9501215 (1) (see all 10)
    l-methylmalonyl-coa 86.8 7 7901104 (2), 8099783 (1), 11935176 (1), 8507652 (1) (see all 6)

    2 PharmGKB related drug/compound annotations for MTR gene    About this table
    Drug/compound PharmGKB Annotation
    cisplatinCA  
    methotrexateCA  

    Search CenterWatch for drugs/clinical trials and news about MTR / METH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTR gene: 
    NM_000254.2  

    Unigene Cluster for MTR:

    5-methyltetrahydrofolate-homocysteine methyltransferase
    Hs.498187  [show with all ESTs]
    Unigene Representative Sequence: NM_000254
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366577(uc001hyi.4 uc010pxw.2 uc010pxx.2 uc010pxy.2)
    ENST00000463959(uc009xgj.1) ENST00000366576 ENST00000470570 ENST00000418145(uc010pxv.1)
    ENST00000535889
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    hsa-miR-579 hsa-miR-26a-2* hsa-miR-429 hsa-miR-4272 hsa-miR-371-5p hsa-miR-548m hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMTR 3' UTR sequence
    Inhib. RNA
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    OriGene clones in human, mouse for MTR (see all 5)
    OriGene ORF clones in mouse, rat for MTR
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    GenScript: all cDNA clones in your preferred vector: MTR (NM_000254)
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    Additional mRNA sequence: 

    AK090487.1 AK125206.1 AK127317.1 AK294270.1 AK299904.1 AK307390.1 AY429553.1 BC015894.1 
    BC067276.1 BC130616.1 BC136440.1 BC144095.1 BC144097.1 BC144098.1 BX641132.1 U71285.1 
    U73338.1 U75743.1 

    11 DOTS entries:

    DT.212613  DT.91656110  DT.95088758  DT.100682539  DT.91747359  DT.102831022  DT.102831021  DT.100783258 
    DT.91849389  DT.95258735  DT.91898644 

    24/174 AceView cDNA sequences (see all 174):

    BE463498 AL041796 AA975197 CD512766 AA356439 AV725573 BI962573 BM472454 
    BI793260 AI425009 AL598311 CD675851 AA857538 BU189680 CD516382 AI632935 
    AA233640 BX390174 AI127504 BP336015 AI962366 CB268493 AW299977 AI866534 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTR expression in normal human tissues (normalized intensities)      MTR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACATTGTT
    MTR Expression
    About this image


    MTR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/midbrain   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             bone marrow cd34+   
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   

    See MTR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTR

    SOURCE GeneReport for Unigene cluster: Hs.498187

    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
    Tissue specificity: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle
    and placenta. Expressed at lower levels in lung, liver and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including MTR: 
              Amino Acid Metabolism I in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MTR gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtr1 , 5 5-methyltetrahydrofolate-homocysteine methyltransferase1, 5 88.55(n)1
    92.09(a)1
      13 (4.52 cM)5
    2385051  NM_001081128.31  NP_001074597.11 
     121865425 
    chicken
    (Gallus gallus)
    Aves MTR1 5-methyltetrahydrofolate-homocysteine methyltransferase 78.69(n)
    84.1(a)
      422069  NM_001031104.1  NP_001026275.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTR6
    5-methyltetrahydrofolate-homocysteine methyltransf...
    81(a)
    1 ↔ 1
    1(218725252-218824780)
    zebrafish
    (Danio rerio)
    Actinopterygii mtr2 5-methyltetrahydrofolate-homocysteine methyltransferase 75.04(n)   378847  AF506733.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R03D7.13
    metr-11
    5-methyltetrahydrofolate-homocysteine
    methyltransferase3
    Protein METR-11
    63(a)3
    61.95(n)1
    64.36(a)1
      II(10926473-10930792)3
    1746811  NM_063952.31  NP_496353.11 


    ENSEMBL Gene Tree for MTR (if available)
    TreeFam Gene Tree for MTR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTR gene
    1 SIMAP similar gene for MTR using alignment to 5 protein entries:     METH_HUMAN (see all proteins):
    DKFZp686A22123

    MTR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2422 SNPs in MTR are shown (see all 2422)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0043304
    Methylcobalamin deficiency type G (cblG)4--see VAR_0043302 H D mis40--------
    VAR_0043314
    Methylcobalamin deficiency type G (cblG)4--see VAR_0043312 P L mis40--------
    rs1219135781,2
    Cpathogenic1243859461(+) CCGCCC/TGGCTC 2 P L mis11Minor allele frequency- T:0.00NA 3934
    VAR_0043264
    ----see VAR_0043262 R K mis40--------
    VAR_0043274
    ----see VAR_0043272 C Y mis40--------
    rs1462618651,2
    C--207416206(+) AATAA-/ATAAG 
            
    ATGTA
    1 -- int10--------
    rs720401201,2
    C--207416207(+) ATAAA-/ATAAG 
            
    TGTAA
    1 -- int10--------
    rs1430741601,2
    C--207417357(+) GACTT-/AAGTCT 1 -- int10--------
    rs2008756941,2
    C--207423417(+) TTCTCA/TCAGTT 1 -- int10--------
    rs57819241,2
    C--207434991(+) TACAT-/GTC   
      T
    /TCTG
    TCTTT
    1 -- int11CSA 2

    HapMap Linkage Disequilibrium report for MTR (236958581 - 237067281 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MTR:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv5010CNV Insertion18451855
    nsv5021CNV Loss18451855
    nsv428335CNV Gain18775914


    Human Gene Mutation Database (HGMD): MTR

    Locus Specific Mutation Databases (LSDB): MTR
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 156570   
    OMIM disorders: 250940  601634  190685  
    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
  • Methylcobalamin deficiency type G (cblG) [MIM:250940]: Autosomal recessive inherited disease that causes
    mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated
    with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS
    mutations could also be involved in tumorigenesis. 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. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • 20/129 diseases for MTR (see all 129):    About MalaCards
    cblg    vitamin b12 deficiency    cble    homocysteinemia
    cbld    methylmalonic acidemia with homocystinuria    neural tube defects, folate-sensitive    hyperhomocysteinemia
    homocystinuria    cblf    disorders of intracellular cobalamin metabolism    pediatric osteosarcoma
    methylmalonic acidemia    adult acute lymphocytic leukemia    myelomeningocele    megaloblastic anemia
    spina bifida    acute lymphocytic leukemia    neural tube defects    cerebrovascular disease

    9 diseases from the University of Copenhagen DISEASES database for MTR:
    Hyperhomocysteinemia     Vitamin B12 deficiency     Homocystinuria     Megaloblastic anemia
    Methylmalonic acidemia     Multiple sclerosis     Spina bifida     Down syndrome
    Cancer

    MTR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/52 Novoseek inferred disease relationships for MTR gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperhomocysteinemia 82.9 10 11460881 (2), 8968737 (1), 12520968 (1), 12476935 (1) (see all 8)
    homocystinuria 82.3 9 9286442 (2), 15714522 (1), 9266389 (1), 9427140 (1) (see all 7)
    anemia megaloblastic 82 7 9453374 (2), 2407589 (1), 9427140 (1), 9501215 (1) (see all 6)
    methylenetetrahydrofolate reductase deficiency 81.4 2 9587031 (1), 12840086 (1)
    subacute combined degeneration 80.7 2 2407589 (1), 1678030 (1)
    methylmalonic aciduria 80.4 4 9266389 (1), 11237984 (1), 8979304 (1)
    neural tube defects 78.2 11 12812837 (1), 8968737 (1), 10323741 (1), 12520968 (1) (see all 10)
    folate deficiency 76 6 7901104 (1), 18815869 (1), 15496403 (1)
    homocysteinemia 72.8 2 11158293 (1), 12923861 (1)
    vitamin b12 deficiency 72.4 3 16054985 (1), 9453374 (1), 16464760 (1)

    Genatlas disease: MTR
    methylmalonic acidemia and homocystinuria,megaloblastic anemia with/without the cblG variant,characterized by
    neonatal seizures,severe developmental delay and hyperhomocysteinemia,cblG complementation groups no evidence of
    association with neural tube defects (NTD) in Netherlands and U.K.

    GeneTests: MTR
    GeneReviews: MTR
    Genetic Association Database (GAD): MTR
    Human Genome Epidemiology (HuGE) Navigator: MTR (286 documents)

    Export disorders for MTR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTR gene, integrated from 9 sources (see all 612):
    (articles sorted by number of sources associating them with MTR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping and RNA analysis of the human methionine synthase gene. (PubMed id 8968735)1, 2, 3, 9 Li Y.N.... Kruger W.D. (1996)
    2. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. (PubMed id 15979034)1, 2, 4, 9 O'Leary V.B.... Brody L.C. (2005)
    3. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. (PubMed id 12482550)1, 4, 9 Jacques P.F....Rozen R. (2003)
    4. Women with polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are less likely to have cervical intraepithelial neoplasia (CIN) 2 or 3. (PubMed id 15514969)1, 4, 9 Henao O.L....Partridge E.E. (2005)
    5. The effects of polymorphisms in methylenetetrahydrofo late reductase (MTHFR), methionine synthase (MTR), and methionine synthase redu ctase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical can cer in Korean women. (PubMed id 19760026)1, 4, 9 Tong S.Y....Kwon Y.I. (2010)
    6. Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian population. (PubMed id 18351371)1, 4, 9 Shekari M....Suri V. (2008)
    7. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. (PubMed id 11257268)1, 4, 9 Chen J....Hunter D.J. (2001)
    8. Association between the 2756A> G variant in the gene encoding methionine synthase and myocardial infarction in Tunisian patients. (PubMed id 18844488)1, 4, 9 Jemaa R....Kaabachi N. (2008)
    9. Oxidative DNA damage and level of thiols as related to polymorphisms of MTHFR, MTR, MTHFD1 in Alzheimer's and Parkinson's diseases. (PubMed id 17691219)1, 4, 9 Dorszewska J....Kozubski W. (2007)
    10. 5-Methyltetrahydrofolate-homocysteine methyltransfera se gene polymorphism (MTR) and risk of head and neck cancer. (PubMed id 20490431)1, 4, 9 Galbiatti A.L....Goloni-Bertollo E.M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4548 HGNC: 7468 AceView: MTR Ensembl:ENSG00000116984 euGenes: HUgn4548
    ECgene: MTR Kegg: 4548 H-InvDB: MTR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTR Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/5-Methyltetrahydrofolate-homocysteine_methyltransferase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTR gene:
    Search GeneIP for patents involving MTR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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