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MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)

Identity

Other namesHMAG
MS
cblG
HGNC (Hugo) MTR
LocusID (NCBI) 4548
Location 1q43
Location_base_pair Starts at 236958581 and ends at 237067281 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MTR   7468
Cards
Entrez_Gene (NCBI)MTR  4548  5-methyltetrahydrofolate-homocysteine methyltransferase
GeneCards (Weizmann)MTR
Ensembl hg19 (Hinxton)ENSG00000116984 [Gene_View]  chr1:236958581-237067281 [Contig_View]  MTR [Vega]
Ensembl hg38 (Hinxton)ENSG00000116984 [Gene_View]  chr1:236958581-237067281 [Contig_View]  MTR [Vega]
ICGC DataPortalENSG00000116984
cBioPortalMTR
AceView (NCBI)MTR
Genatlas (Paris)MTR
WikiGenes4548
SOURCE (Princeton)MTR
Genomic and cartography
GoldenPath hg19 (UCSC)MTR  -     chr1:236958581-237067281 +  1q43   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTR  -     1q43   [Description]    (hg38-Dec_2013)
EnsemblMTR - 1q43 [CytoView hg19]  MTR - 1q43 [CytoView hg38]
Mapping of homologs : NCBIMTR [Mapview hg19]  MTR [Mapview hg38]
OMIM156570   250940   601634   
Gene and transcription
Genbank (Entrez)AK090487 AK125206 AK127317 AK294270 AK299904
RefSeq transcript (Entrez)NM_000254 NM_001291939 NM_001291940
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008959 NT_167186 NW_001838549 NW_004929294
Consensus coding sequences : CCDS (NCBI)MTR
Cluster EST : UnigeneHs.498187 [ NCBI ]
CGAP (NCI)Hs.498187
Alternative Splicing : Fast-db (Paris)GSHG0001570
Alternative Splicing GalleryENSG00000116984
Gene ExpressionMTR [ NCBI-GEO ]     MTR [ SEEK ]   MTR [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99707 (Uniprot)
NextProtQ99707  [Medical]
With graphics : InterProQ99707
Splice isoforms : SwissVarQ99707 (Swissvar)
Catalytic activity : Enzyme2.1.1.13 [ Enzyme-Expasy ]   2.1.1.132.1.1.13 [ IntEnz-EBI ]   2.1.1.13 [ BRENDA ]   2.1.1.13 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ADOMET_ACTIVATION (PS50974)    B12_BINDING (PS51332)    B12_BINDING_NTER (PS51337)    HCY (PS50970)    PTERIN_BINDING (PS50972)   
Domains : Interpro (EBI)Cbl-bd_cap    Cobalamin-bd    Dihydropteroate_synth-like    MetH    Pterin-binding    S_MeTrfase    VitB12-dep_Met_synth_activ_dom   
Related proteins : CluSTrQ99707
Domain families : Pfam (Sanger)B12-binding (PF02310)    B12-binding_2 (PF02607)    Met_synt_B12 (PF02965)    Pterin_bind (PF00809)    S-methyl_trans (PF02574)   
Domain families : Pfam (NCBI)pfam02310    pfam02607    pfam02965    pfam00809    pfam02574   
Domain families : Smart (EMBL)B12-binding_2 (SM01018)  
DMDM Disease mutations4548
Blocks (Seattle)Q99707
PDB (SRS)2O2K    4CCZ   
PDB (PDBSum)2O2K    4CCZ   
PDB (IMB)2O2K    4CCZ   
PDB (RSDB)2O2K    4CCZ   
Human Protein AtlasENSG00000116984
Peptide AtlasQ99707
HPRD01136
IPIIPI00743284   IPI00909463   IPI00909023   IPI01013609   IPI00644782   
Protein Interaction databases
DIP (DOE-UCLA)Q99707
IntAct (EBI)Q99707
FunCoupENSG00000116984
BioGRIDMTR
IntegromeDBMTR
STRING (EMBL)MTR
Ontologies - Pathways
QuickGOQ99707
Ontology : AmiGOsulfur amino acid metabolic process  cytosol  vitamin metabolic process  water-soluble vitamin metabolic process  xenobiotic metabolic process  nervous system development  zinc ion binding  methionine synthase activity  S-adenosylmethionine-homocysteine S-methyltransferase activity  methionine biosynthetic process  cobalamin metabolic process  cobalamin binding  methylation  cellular nitrogen compound metabolic process  pteridine-containing compound metabolic process  small molecule metabolic process  
Ontology : EGO-EBIsulfur amino acid metabolic process  cytosol  vitamin metabolic process  water-soluble vitamin metabolic process  xenobiotic metabolic process  nervous system development  zinc ion binding  methionine synthase activity  S-adenosylmethionine-homocysteine S-methyltransferase activity  methionine biosynthetic process  cobalamin metabolic process  cobalamin binding  methylation  cellular nitrogen compound metabolic process  pteridine-containing compound metabolic process  small molecule metabolic process  
Pathways : KEGGCysteine and methionine metabolism    Selenocompound metabolism    One carbon pool by folate   
Protein Interaction DatabaseMTR
DoCM (Curated mutations)MTR
Wikipedia pathwaysMTR
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMTR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTR
dbVarMTR
ClinVarMTR
1000_GenomesMTR 
Exome Variant ServerMTR
SNP (GeneSNP Utah)MTR
SNP : HGBaseMTR
Genetic variants : HAPMAPMTR
Genomic VariantsMTR  MTR [DGVbeta]
Mutations
ICGC Data PortalENSG00000116984 
Somatic Mutations in Cancer : COSMICMTR 
CONAN: Copy Number AnalysisMTR 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:236958581-237067281
Mutations and Diseases : HGMDMTR
OMIM156570    250940    601634   
MedgenMTR
NextProtQ99707 [Medical]
GENETestsMTR
Disease Genetic AssociationMTR
Huge Navigator MTR [HugePedia]  MTR [HugeCancerGEM]
snp3D : Map Gene to Disease4548
DGIdb (Drug Gene Interaction db)MTR
General knowledge
Homologs : HomoloGeneMTR
Homology/Alignments : Family Browser (UCSC)MTR
Phylogenetic Trees/Animal Genes : TreeFamMTR
Chemical/Protein Interactions : CTD4548
Chemical/Pharm GKB GenePA31272
Clinical trialMTR
Cancer Resource (Charite)ENSG00000116984
Other databases
Probes
Litterature
PubMed342 Pubmed reference(s) in Entrez
CoreMineMTR
GoPubMedMTR
iHOPMTR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:21:01 CET 2014

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