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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
MTR 4548 5-methyltetrahydrofolate-homocysteine methyltransferase  1cblG 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
25942531   2015Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Methylation-sensitive high-resolution melting and genotyping by PCR-RFLP Polymorhpism- Low methylation levels of the five CRC genes and the MTR 2756AA genotype.


Gene Details



NC_000001.10 (236958581..237067281)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 1
Location 1q43
Start 236958581  
End 237067281  
Strand +  
Gene Sequence

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Length 108701  
OMIM ID 156570   
HGNC ID HGNC:7468   
Unigene ID Hs.498187   
Ensembl ID ENSG00000116984   
PharmGKB ID PA31272   

mRNA Information


mRNA ID XM_011544193.1
Exon join(1..1434,9125..9339,11841..11930,14401..14470, 16200..16292,18435..18541,21301..21360,22146..22240, 29816..29916,31035..31096,32526..32593,34886..34965, 37663..37775,41244..41384,44111..44296,56041..56220, 58218..58334,58645..58785,65530..65619,66822..66974, 67933..68040,69151..69251,86452..86533,90818..90916, 91989..92064,94878..95033,96830..97026,100054..100254, 101055..101247,102703..102815,103255..109630)  
mRNA Sequence

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Length 11298  



CDS Information


   
Location1401..5009
CDS Sequence

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CCDS ID CCDS1614.1



Protein Information


      
Protein IDXP_011542495.1
Protein Name5-methyltetrahydrofolate-homocysteine methyltransferase
Molecular Wt. (Da)16860
Protein Sequence

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Length 1202  
Uniprot IDQ16762
Ensembl Protein ID ENSP00000249042  



Post-translational Modification Information (Source : HPRD)


Residue Type site
TPhosphorylation17

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

No matching records from HPRD source could be found.

Pathway Information


                              
Pathway Name Pathway ID
Biosynthesis of amino acids hsa01230
Cysteine and methionine metabolism hsa00270
Metabolic pathways hsa01100
One carbon pool by folate hsa00670
Selenocompound metabolism hsa00450


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd00740371-627  MeTr
cl00219371-627  Pterin_binding superfamily
cd02069671-897  methionine_synthase_B12_BD
cl00293671-897  B12-binding_like superfamily
COG064621-340  MetH1
cl2288221-340  S-methyl_trans superfamily
pfam0257430-340  S-methyl_trans
cd00423371-627  Pterin_binding
pfam02965964-1247  Met_synt_B12
cl03805964-1247  Met_synt_B12 superfamily
pfam00809371-583  Pterin_bind
cd02070678-892  corrinoid_protein_B12-BD
cd02067774-892  B12-binding
PRK0753468-370  PRK07534
PRK07535374-616  PRK07535
smart01018670-755  B12-binding_2
cl03653670-755  B12-binding_2 superfamily
PRK0948523-340  mmuM
cd02065774-887  B12-binding_like
COG204030-340  MHT1
pfam02310773-861  B12-binding
PLN0248932-340  PLN02489
pfam02607670-749  B12-binding_2
COG2185774-860  Sbm
PRK02261774-832  PRK02261
TIGR01501774-832  MthylAspMutase
cd02072774-832  Glm_B12_BD
cd02071775-860  MM_CoA_mut_B12_BD
pfam03599443-549  CdhD
PRK0949019-1261  metH
TIGR0208226-1230  metH
COG1410342-1230  MetH2
PRK0864515-343  PRK08645
COG5012678-866  MtbC1
TIGR02370678-865  pyl_corrinoid


Ontology Information


   
HPRD ID1447
Molecular ClassEnzyme: Methyltransferase
Molecular FunctionTransporter activity (GO:0005215)
Biological ProcessTransport (GO:0006810)  



SNP Information


View SNP Geneview Report   

Drug Information


Uniprot ID DrugBank ID Name Type
Q99707DB00115CyanocobalaminSmallMoleculeDrug
Q99707DB00116Tetrahydrofolic acidSmallMoleculeDrug
Q99707DB00134L-MethionineSmallMoleculeDrug
Q99707DB00200HydroxocobalaminSmallMoleculeDrug

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO