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MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Identity

Alias_symbol (synonym)cblE
Other aliasMSR
HGNC (Hugo) MTRR
LocusID (NCBI) 4552
Atlas_Id 43689
Location 5p15.31  [Link to chromosome band 5p15]
Location_base_pair Starts at 7869104 and ends at 7901122 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GPBP1 (5q11.2) / MTRR (5p15.31)MTRR (5p15.31) / NMD3 (3q26.1)GPBP1 5q11.2 / MTRR 5p15.31
MTRR 5p15.31 / NMD3 3q26.1

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)MTRR   7473
Cards
Entrez_Gene (NCBI)MTRR  4552  5-methyltetrahydrofolate-homocysteine methyltransferase reductase
AliasesMSR; cblE
GeneCards (Weizmann)MTRR
Ensembl hg19 (Hinxton)ENSG00000124275 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124275 [Gene_View]  chr5:7869104-7901122 [Contig_View]  MTRR [Vega]
ICGC DataPortalENSG00000124275
TCGA cBioPortalMTRR
AceView (NCBI)MTRR
Genatlas (Paris)MTRR
WikiGenes4552
SOURCE (Princeton)MTRR
Genetics Home Reference (NIH)MTRR
Genomic and cartography
GoldenPath hg38 (UCSC)MTRR  -     chr5:7869104-7901122 +  5p15.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTRR  -     5p15.31   [Description]    (hg19-Feb_2009)
EnsemblMTRR - 5p15.31 [CytoView hg19]  MTRR - 5p15.31 [CytoView hg38]
Mapping of homologs : NCBIMTRR [Mapview hg19]  MTRR [Mapview hg38]
OMIM236270   601634   602568   
Gene and transcription
Genbank (Entrez)AF025794 AF121214 AK308442 AK311663 BC035977
RefSeq transcript (Entrez)NM_002454 NM_024010
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTRR
Cluster EST : UnigeneHs.481551 [ NCBI ]
CGAP (NCI)Hs.481551
Alternative Splicing GalleryENSG00000124275
Gene ExpressionMTRR [ NCBI-GEO ]   MTRR [ EBI - ARRAY_EXPRESS ]   MTRR [ SEEK ]   MTRR [ MEM ]
Gene Expression Viewer (FireBrowse)MTRR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4552
GTEX Portal (Tissue expression)MTRR
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBK8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBK8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBK8
Splice isoforms : SwissVarQ9UBK8
PhosPhoSitePlusQ9UBK8
Domaine pattern : Prosite (Expaxy)FAD_FR (PS51384)    FLAVODOXIN_LIKE (PS50902)   
Domains : Interpro (EBI)FAD-binding_1    Fd_Rdtase_FAD-bd    Flavdoxin-like    Flavodoxin/NO_synth    Flavoprot_Pyr_Nucl_cyt_Rdtase    Flavoprotein-like_dom    NADPH_Cyt_P450_Rdtase_dom3    OxRdtase_FAD/NAD-bd    Riboflavin_synthase-like_b-brl   
Domain families : Pfam (Sanger)FAD_binding_1 (PF00667)    Flavodoxin_1 (PF00258)    NAD_binding_1 (PF00175)   
Domain families : Pfam (NCBI)pfam00667    pfam00258    pfam00175   
Conserved Domain (NCBI)MTRR
DMDM Disease mutations4552
Blocks (Seattle)MTRR
PDB (SRS)2QTL    2QTZ   
PDB (PDBSum)2QTL    2QTZ   
PDB (IMB)2QTL    2QTZ   
PDB (RSDB)2QTL    2QTZ   
Structural Biology KnowledgeBase2QTL    2QTZ   
SCOP (Structural Classification of Proteins)2QTL    2QTZ   
CATH (Classification of proteins structures)2QTL    2QTZ   
SuperfamilyQ9UBK8
Human Protein AtlasENSG00000124275
Peptide AtlasQ9UBK8
HPRD03979
IPIIPI00307334   IPI00221302   IPI00221303   IPI00967411   IPI00967994   IPI00966661   IPI00968281   IPI00966362   IPI00966348   IPI00967616   IPI00967200   IPI00967711   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBK8
IntAct (EBI)Q9UBK8
FunCoupENSG00000124275
BioGRIDMTRR
STRING (EMBL)MTRR
ZODIACMTRR
Ontologies - Pathways
QuickGOQ9UBK8
Ontology : AmiGOsulfur amino acid metabolic process  NADPH-hemoprotein reductase activity  protein binding  cytosol  DNA methylation  methionine metabolic process  methionine biosynthetic process  cobalamin metabolic process  FMN binding  FMN binding  oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor  [methionine synthase] reductase activity  [methionine synthase] reductase activity  methylation  S-adenosylmethionine cycle  homocysteine catabolic process  folic acid metabolic process  folic acid metabolic process  aquacobalamin reductase (NADPH) activity  flavin adenine dinucleotide binding  flavin adenine dinucleotide binding  NADP binding  oxidation-reduction process  NADPH binding  FAD binding  negative regulation of cystathionine beta-synthase activity  
Ontology : EGO-EBIsulfur amino acid metabolic process  NADPH-hemoprotein reductase activity  protein binding  cytosol  DNA methylation  methionine metabolic process  methionine biosynthetic process  cobalamin metabolic process  FMN binding  FMN binding  oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor  [methionine synthase] reductase activity  [methionine synthase] reductase activity  methylation  S-adenosylmethionine cycle  homocysteine catabolic process  folic acid metabolic process  folic acid metabolic process  aquacobalamin reductase (NADPH) activity  flavin adenine dinucleotide binding  flavin adenine dinucleotide binding  NADP binding  oxidation-reduction process  NADPH binding  FAD binding  negative regulation of cystathionine beta-synthase activity  
NDEx NetworkMTRR
Atlas of Cancer Signalling NetworkMTRR
Wikipedia pathwaysMTRR
Orthology - Evolution
OrthoDB4552
GeneTree (enSembl)ENSG00000124275
Phylogenetic Trees/Animal Genes : TreeFamMTRR
HOVERGENQ9UBK8
HOGENOMQ9UBK8
Homologs : HomoloGeneMTRR
Homology/Alignments : Family Browser (UCSC)MTRR
Gene fusions - Rearrangements
Fusion : MitelmanGPBP1/MTRR [5q11.2/5p15.31]  [t(5;5)(p15;q11)]  
Fusion : MitelmanMTRR/NMD3 [5p15.31/3q26.1]  [t(3;5)(q26;p15)]  
Fusion: TCGAGPBP1 5q11.2 MTRR 5p15.31 PRAD
Fusion: TCGAMTRR 5p15.31 NMD3 3q26.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTRR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTRR
dbVarMTRR
ClinVarMTRR
1000_GenomesMTRR 
Exome Variant ServerMTRR
ExAC (Exome Aggregation Consortium)MTRR (select the gene name)
Genetic variants : HAPMAP4552
Genomic Variants (DGV)MTRR [DGVbeta]
DECIPHERMTRR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTRR 
Mutations
ICGC Data PortalMTRR 
TCGA Data PortalMTRR 
Broad Tumor PortalMTRR
OASIS PortalMTRR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTRR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTRR
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)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MTRR
DgiDB (Drug Gene Interaction Database)MTRR
DoCM (Curated mutations)MTRR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTRR (select a term)
intoGenMTRR
Cancer3DMTRR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236270    601634    602568   
Orphanet2063   
MedgenMTRR
Genetic Testing Registry MTRR
NextProtQ9UBK8 [Medical]
TSGene4552
GENETestsMTRR
Huge Navigator MTRR [HugePedia]
snp3D : Map Gene to Disease4552
BioCentury BCIQMTRR
ClinGenMTRR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4552
Chemical/Pharm GKB GenePA31277
Clinical trialMTRR
Miscellaneous
canSAR (ICR)MTRR (select the gene name)
Probes
Litterature
PubMed315 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTRR
EVEXMTRR
GoPubMedMTRR
iHOPMTRR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:27:29 CEST 2017

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