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MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)

Identity

Alias (NCBI)MSR
cblE
HGNC (Hugo) MTRR
HGNC Alias symbcblE
HGNC Alias nameMethionine synthase reductase
LocusID (NCBI) 4552
Atlas_Id 43689
Location 5p15.31  [Link to chromosome band 5p15]
Location_base_pair Starts at 7869148 and ends at 7901113 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    5-methyltetrahydrofolate-homocysteine methyltransferase reductase
AliasesMSR; cblE
GeneCards (Weizmann)MTRR
Ensembl hg19 (Hinxton)ENSG00000124275 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124275 [Gene_View]  ENSG00000124275 [Sequence]  chr5:7869148-7901113 [Contig_View]  MTRR [Vega]
ICGC DataPortalENSG00000124275
TCGA cBioPortalMTRR
AceView (NCBI)MTRR
Genatlas (Paris)MTRR
SOURCE (Princeton)MTRR
Genetics Home Reference (NIH)MTRR
Genomic and cartography
GoldenPath hg38 (UCSC)MTRR  -     chr5:7869148-7901113 +  5p15.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTRR  -     5p15.31   [Description]    (hg19-Feb_2009)
GoldenPathMTRR - 5p15.31 [CytoView hg19]  MTRR - 5p15.31 [CytoView hg38]
ImmunoBaseENSG00000124275
Genome Data Viewer NCBIMTRR [Mapview hg19]  
OMIM236270   601634   602568   
Gene and transcription
Genbank (Entrez)AF025794 AF121214 AK308442 AK311663 BC035977
RefSeq transcript (Entrez)NM_001364440 NM_001364441 NM_001364442 NM_002454 NM_024010
Consensus coding sequences : CCDS (NCBI)MTRR
Gene ExpressionMTRR [ NCBI-GEO ]   MTRR [ EBI - ARRAY_EXPRESS ]   MTRR [ SEEK ]   MTRR [ MEM ]
Gene Expression Viewer (FireBrowse)MTRR [ Firebrowse - Broad ]
GenevisibleExpression of MTRR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4552
GTEX Portal (Tissue expression)MTRR
Human Protein AtlasENSG00000124275-MTRR [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UBK8
Domaine pattern : Prosite (Expaxy)FAD_FR (PS51384)    FLAVODOXIN_LIKE (PS50902)   
Domains : Interpro (EBI)CysJ-like_FAD-binding    FAD-bd_FR_type    Flavdoxin-like    Flavodoxin/NO_synth    Flavoprot_Pyr_Nucl_cyt_Rdtase    Flavoprotein-like_sf    FNR_nucleotide-bd    NADPH_Cyt_P450_Rdtase_alpha    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
PDB (RSDB)2QTL    2QTZ   
PDB Europe2QTL    2QTZ   
PDB (PDBSum)2QTL    2QTZ   
PDB (IMB)2QTL    2QTZ   
Structural Biology KnowledgeBase2QTL    2QTZ   
SCOP (Structural Classification of Proteins)2QTL    2QTZ   
CATH (Classification of proteins structures)2QTL    2QTZ   
SuperfamilyQ9UBK8
AlphaFold pdb e-kbQ9UBK8   
Human Protein Atlas [tissue]ENSG00000124275-MTRR [tissue]
HPRD03979
Protein Interaction databases
DIP (DOE-UCLA)Q9UBK8
IntAct (EBI)Q9UBK8
BioGRIDMTRR
STRING (EMBL)MTRR
ZODIACMTRR
Ontologies - Pathways
QuickGOQ9UBK8
Ontology : AmiGOsulfur amino acid metabolic process  NADPH-hemoprotein reductase activity  protein binding  nucleoplasm  cytosol  cytosol  cytosol  DNA methylation  methionine biosynthetic process  methionine biosynthetic process  cobalamin metabolic process  FMN binding  FMN binding  oxidoreductase activity  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen  oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor  [methionine synthase] reductase activity  [methionine synthase] reductase activity  [methionine synthase] reductase activity  methylation  S-adenosylmethionine cycle  homocysteine catabolic process  intermediate filament cytoskeleton  folic acid metabolic process  folic acid metabolic process  flavin adenine dinucleotide binding  flavin adenine dinucleotide binding  homocysteine metabolic 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  nucleoplasm  cytosol  cytosol  cytosol  DNA methylation  methionine biosynthetic process  methionine biosynthetic process  cobalamin metabolic process  FMN binding  FMN binding  oxidoreductase activity  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen  oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor  [methionine synthase] reductase activity  [methionine synthase] reductase activity  [methionine synthase] reductase activity  methylation  S-adenosylmethionine cycle  homocysteine catabolic process  intermediate filament cytoskeleton  folic acid metabolic process  folic acid metabolic process  flavin adenine dinucleotide binding  flavin adenine dinucleotide binding  homocysteine metabolic 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
Homologs : HomoloGeneMTRR
Homology/Alignments : Family Browser (UCSC)MTRR
Gene fusions - Rearrangements
Fusion : MitelmanGPBP1::MTRR [5q11.2/5p15.31]  
Fusion : MitelmanMTRR::NMD3 [5p15.31/3q26.1]  
Fusion : QuiverMTRR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTRR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTRR
dbVarMTRR
ClinVarMTRR
MonarchMTRR
1000_GenomesMTRR 
Exome Variant ServerMTRR
GNOMAD BrowserENSG00000124275
Varsome BrowserMTRR
ACMGMTRR variants
VarityQ9UBK8
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]  
Somatic Mutations in Cancer : COSMIC3DMTRR
Mutations and Diseases : HGMDMTRR
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMTRR
DgiDB (Drug Gene Interaction Database)MTRR
DoCM (Curated mutations)MTRR
CIViC (Clinical Interpretations of Variants in Cancer)MTRR
Cancer3DMTRR
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM236270    601634    602568   
Orphanet2063   
DisGeNETMTRR
MedgenMTRR
Genetic Testing Registry MTRR
NextProtQ9UBK8 [Medical]
GENETestsMTRR
Target ValidationMTRR
Huge Navigator MTRR [HugePedia]
ClinGenMTRR
Clinical trials, drugs, therapy
MyCancerGenomeMTRR
Protein Interactions : CTDMTRR
Pharm GKB GenePA31277
Pharm GKB PathwaysPA165291575   PA2039   
PharosQ9UBK8
Clinical trialMTRR
Miscellaneous
canSAR (ICR)MTRR
HarmonizomeMTRR
ARCHS4MTRR
DataMed IndexMTRR
Probes
Litterature
PubMed360 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMTRR
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 : Sun Jan 16 18:23:35 CET 2022

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