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MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)

Identity

Other namesHMAG
MS
cblG
HGNC (Hugo) MTR
LocusID (NCBI) 4548
Atlas_Id 43820
Location 1q43
Location_base_pair Starts at 236958581 and ends at 237067281 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTR (1q43) / CC2D2A (4p15.32)MTR (1q43) / CCAR1 (10q21.3)MTR (1q43) / IFI16 (1q23.1)
MTR (1q43) / MTR (1q43)MTR (1q43) / PGM5 (9q21.11)MTR 1q43 / IFI16 1q23.1

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
TCGA 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)NC_000001 NC_018912 NG_008959 NT_167186 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 [ EBI - ARRAY_EXPRESS ]   MTR [ SEEK ]   MTR [ MEM ]
Gene Expression Viewer (FireBrowse)MTR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4548
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99707 (Uniprot)
NextProtQ99707  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusQ99707
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    HCY_dom    MetH    Pterin-binding_dom    VitB12-dep_Met_synth_activ_dom   
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)MTR
PDB (SRS)2O2K    4CCZ   
PDB (PDBSum)2O2K    4CCZ   
PDB (IMB)2O2K    4CCZ   
PDB (RSDB)2O2K    4CCZ   
Structural Biology KnowledgeBase2O2K    4CCZ   
SCOP (Structural Classification of Proteins)2O2K    4CCZ   
CATH (Classification of proteins structures)2O2K    4CCZ   
SuperfamilyQ99707
Human Protein AtlasENSG00000116984
Peptide AtlasQ99707
HPRD01136
IPIIPI00743284   IPI00909463   IPI00909023   IPI01013609   IPI00644782   
Protein Interaction databases
DIP (DOE-UCLA)Q99707
IntAct (EBI)Q99707
FunCoupENSG00000116984
BioGRIDMTR
STRING (EMBL)MTR
ZODIACMTR
Ontologies - Pathways
QuickGOQ99707
Ontology : AmiGOsulfur amino acid metabolic process  protein binding  cytoplasm  cytosol  cytosol  nervous system development  zinc ion binding  methionine synthase activity  methionine synthase activity  S-adenosylmethionine-homocysteine S-methyltransferase activity  methionine biosynthetic process  cobalamin metabolic process  cobalamin metabolic process  axon regeneration  cobalamin binding  methylation  pteridine-containing compound metabolic process  response to axon injury  cellular response to nitric oxide  
Ontology : EGO-EBIsulfur amino acid metabolic process  protein binding  cytoplasm  cytosol  cytosol  nervous system development  zinc ion binding  methionine synthase activity  methionine synthase activity  S-adenosylmethionine-homocysteine S-methyltransferase activity  methionine biosynthetic process  cobalamin metabolic process  cobalamin metabolic process  axon regeneration  cobalamin binding  methylation  pteridine-containing compound metabolic process  response to axon injury  cellular response to nitric oxide  
Pathways : KEGGCysteine and methionine metabolism    Selenocompound metabolism    One carbon pool by folate   
NDEx Network
Atlas of Cancer Signalling NetworkMTR
Wikipedia pathwaysMTR
Orthology - Evolution
OrthoDB4548
GeneTree (enSembl)ENSG00000116984
Phylogenetic Trees/Animal Genes : TreeFamMTR
Homologs : HomoloGeneMTR
Homology/Alignments : Family Browser (UCSC)MTR
Gene fusions - Rearrangements
Fusion: TCGAMTR 1q43 IFI16 1q23.1 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerMTR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTR
dbVarMTR
ClinVarMTR
1000_GenomesMTR 
Exome Variant ServerMTR
ExAC (Exome Aggregation Consortium)MTR (select the gene name)
SNP (GeneSNP Utah)MTR
SNP : HGBaseMTR
Genetic variants : HAPMAPMTR
Genomic Variants (DGV)MTR [DGVbeta]
Mutations
ICGC Data PortalMTR 
TCGA Data PortalMTR 
Broad Tumor PortalMTR
OASIS PortalMTR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTR 
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)
BioMutasearch MTR
DgiDB (Drug Gene Interaction Database)MTR
DoCM (Curated mutations)MTR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTR (select a term)
intoGenMTR
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:236958581-237067281
CONAN: Copy Number AnalysisMTR 
Mutations and Diseases : HGMDMTR
OMIM156570    250940    601634   
MedgenMTR
Genetic Testing Registry MTR
NextProtQ99707 [Medical]
TSGene4548
GENETestsMTR
Huge Navigator MTR [HugePedia]  MTR [HugeCancerGEM]
snp3D : Map Gene to Disease4548
BioCentury BCIQMTR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4548
Chemical/Pharm GKB GenePA31272
Clinical trialMTR
Miscellaneous
canSAR (ICR)MTR (select the gene name)
Probes
Litterature
PubMed368 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTR
GoPubMedMTR
iHOPMTR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sat Apr 16 17:55:21 CEST 2016

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