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FLASH GENE
Symbol MTRR contributors: mct - updated : 15-05-2013
HGNC name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
HGNC id 7473
Corresponding disease
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency
Location 5p15.31      Physical location : 7.869.216 - 7.901.233
Synonym name methionine synthase reductase
Synonym symbol(s) MGC129643, MSR, CBle
EC.number 2.1.1.135/ 1.16.1.8
DNA
TYPE functioning gene
STRUCTURE 32.02 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - D5S785 - D5S1434 - D5S405 - D5S1492 - D5S675 - D5S2088 - D5S1906 - [D5S406 - D5S1970 - D5S727 - D5S1921 - D5S760 - D5S731 - D5S13 - D5S417 - D5S15 - D5S464 - D5S1892 - D5S635 - D5S2373 - D5S1455 - SRD5A1 - D5S2465 ] - D5S1980 - D5S1953 - D5S676 - D5S2492 -cen
Authors peterson (99)
Physical map
LOC153297 5p15.33 hypothetical LOC153297 LOC340094 5p15.33 hypothetical protein LOC340094 ADAMTS16 5p15 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 KIAA0947 5p15.32 KIAA0947 protein MGC5309 5p15.32 hypothetical protein MGC5309 LOC134111 5p15.32 similar to 3110006E14Rik protein LOC389270 5 LOC389270 FLJ20303 5p15.32 hypothetical protein FLJ20303 SRD5A1 5p15.31 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) POLS 5p15 polymerase (DNA directed) sigma LOC391735 5 similar to hypothetical protein FLJ36144 ADCY2 5p15.33-p15.31 adenylate cyclase 2 (brain) MGC5297 5p15.3-p15.2 hypothetical protein MGC5297 MTRR 5p15.31 5-methyltetrahydrofolate-homocysteine methyltransferase reductase SEMA5A 5p15-pter sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A TAS2R1 5p15.2 taste receptor, type 2, member 1 LOC389271 5 LOC389271 LOC134145 5p15.31 hypothetical protein LOC134145 CCT5 5p15.2 chaperonin containing TCP1, subunit 5 (epsilon) LOC134147 5p15.31 hypothetical protein BC001573 TEB4 5p15.2 similar to S. cerevisiae SSM4 ASP 5p15.31 AKAP-associated sperm protein LOC389272 5 LOC389272 LOC389273 5 hypothetical gene supported by AK130861 LOC391736 5 similar to S-antigen precursor - malaria parasite (Plasmodium falciparum) (strain V1/Vietnam) LOC345711 5p15.31 similar to RIKEN cDNA 0610012A05 LOC391737 5 similar to Intersectin 1 (SH3 domain-containing protein 1A) (SH3P17) DAP 5p12.2 death-associated protein CTNND2 5p15.3 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3317 - 698 - 1999 10564814
15 - 3291 - 725 - 1999 10564814
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid   highly
Nervousbrain   highly
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • FMN, FAD, NADPH binding sites
  • a FAD-binding domain
  • a flavodoxin-like domain
  • HOMOLOGY
    interspecies homolog to C.elegans methionine synthase reductase
    intraspecies homolog to cytochrome p450 reductase
    Homologene
    FAMILY FNR family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • activating cobalamin-dependent methionine synthase
  • regenerating a functional methionine synthase via reductive methylation
  • required for electron transfer from NADP to cytochrome p450 in microsomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    sulfur
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    FAD and FMN
    protein serves as a special chaperone for MTR
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTRR
    Susceptibility
  • risk factor for neural tube defect, NTD, (combined with low cobalamin)
  • to coronary artery disease (CAD)
  • to migraine with aura
  • Variant & Polymorphism other
  • 66A>G exert a protective effect on neural tube defect
  • MTRR variants may protect against migraine with aura in an older population
  • MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS