Methionine synthase reductase Recombinant Protein | MTRR recombinant protein

Recombinant Human Methionine synthase reductase

Cat. Num. AAA1414603

• Gene Names: MTRR; MSR; cblE
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Methionine synthase reductase; Recombinant Human Methionine synthase reductase; MTRR recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-725aa; Full Length
• Sequence: MGAASVRAGARLVEVALCSFTVTCLEVMRRFLLLYATQQGQAKAIAEEICEQAVVHGFSADLHCISESDKYDLKTETAPLVVVVSTTGTGDPPDTARKFVKEIQNQTLPVDFFAHLRYGLLGLGDSEYTYFCNGGKIIDKRLQELGARHFYDTGHADDCVGLELVVEPWIAGLWPALRKHFRSSRGQEEISGALPVASPASSRTDLVKSELLHIESQVELLRFDDSGRKDSEVLKQNAVNSNQSNVVIEDFESSLTRSVPPLSQASLNIPGLPPEYLQVHLQESLGQEESQVSVTSADPVFQVPISKAVQLTTNDAIKTTLLVELDISNTDFSYQPGDAFSVICPNSDSEVQSLLQRLQLEDKREHCVLLKIKADTKKKGATLPQHIPAGCSLQFIFTWCLEIRAIPKKAFLRALVDYTSDSAEKRRLQELCSKQGAADYSRFVRDACACLLDLLLAFPSCQPPLSLLLEHLPKLQPRPYSCASSSLFHPGKLHFVFNIVEFLSTATTEVLRKGVCTGWLALLVASVLQPNIHASHEDSGKALAPKISISPRTTNSFHLPDDPSIPIIMVGPGTGIAPFIGFLQHREKLQEQHPDGNFGAMWLFFGCRHKDRDYLFRKELRHFLKHGILTHLKVSFSRDAPVGEEEAPAKYVQDNIQLHGQQVARILLQENGHIYVCGDAKNMAKDVHDALVQIISKEVGVEKLEAMKTLATLKEEKRYLQDIWS
• Sequence Length: 698

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for MTRR recombinant protein

Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.

Product Categories/Family for MTRR recombinant protein

Metabolism

References

Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene.Leclerc D., Odievre M.-H., Wu Q., Wilson A., Huizenga J., Rozen R., Scherer S.W., Gravel R.A.Gene 240:75-88(1999) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.Leclerc D., Wilson A., Dumas R., Gafuik C., Song D., Watkins D., Heng H.H.Q., Rommens J.M., Scherer S.W., Rosenblatt D.S., Gravel R.A.Proc. Natl. Acad. Sci. U.S.A. 95:3059-3064(1998) The DNA sequence and comparative analysis of human chromosome 5.Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S., Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.Nature 431:268-274(2004) Restricted role for methionine synthase reductase defined by subcellular localization.Froese D.S., Wu X., Zhang J., Dumas R., Schoel W.M., Amrein M., Gravel R.A.Mol. Genet. Metab. 94:68-77(2008) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.Sci. Signal. 3:RA3-RA3(2010) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.J. Proteomics 96:253-262(2014) Mechanism of coenzyme binding to human methionine synthase reductase revealed through the crystal structure of the FNR-like module and isothermal titration calorimetry.Wolthers K.R., Lou X., Toogood H.S., Leys D., Scrutton N.S.Biochemistry 46:11833-11844(2007) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.Wilson A., Leclerc D., Rosenblatt D.S., Gravel R.A.Hum. Mol. Genet. 8:2009-2016(1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.Wilson A., Platt R., Wu Q., Leclerc D., Christensen B., Yang H., Gravel R.A., Rozen R.Mol. Genet. Metab. 67:317-323(1999) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.Doolin M.-T., Barbaux S., McDonnell M., Hoess K., Whitehead A.S., Mitchell L.E.Am. J. Hum. Genet. 71:1222-1226(2002) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.O'Leary V.B., Mills J.L., Pangilinan F., Kirke P.N., Cox C., Conley M., Weiler A., Peng K., Shane B., Scott J.M., Parle-McDermott A., Molloy A.M., Brody L.C.Mol. Genet. Metab. 85:220-227(2005)

NCBI and Uniprot Product Information

• NCBI GI #: 169790958
• NCBI GeneID: 4552
• NCBI Accession #: NP_002445.2
• NCBI GenBank Nucleotide #: NM_002454.2
• UniProt Accession #: Q9UBK8; O60471; Q32MA9; Q7Z4M8
• Molecular Weight: 107.4 kDa
• NCBI Official Full Name: methionine synthase reductase isoform 1
• NCBI Official Synonym Full Names: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
• NCBI Official Symbol: MTRR
• NCBI Official Synonym Symbols: MSR; cblE
• NCBI Protein Information: methionine synthase reductase
• UniProt Protein Name: Methionine synthase reductase
• Protein Family: Methionine synthase reductase
• UniProt Gene Name: MTRR
• UniProt Synonym Gene Names: MSR
• UniProt Entry Name: MTRR_HUMAN

NCBI Description

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Uniprot Description

MTRR: Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state. Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE); also known as vitamin B12- responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease. Defects in MTRR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD). The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTRR may affect the risk of spina bifida via the maternal rather than the embryonic genotype. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.16.1.8; Oxidoreductase

Chromosomal Location of Human Ortholog: 5p15.31

Cellular Component: cytoplasm; cytosol; intermediate filament cytoskeleton; nucleoplasm

Molecular Function: [methionine synthase] reductase activity; aquacobalamin reductase (NADPH) activity; FAD binding; FMN binding; iron ion binding; NADP binding; NADPH-hemoprotein reductase activity; oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor; protein binding

Biological Process: cobalamin metabolic process; DNA methylation; folic acid metabolic process; homocysteine catabolic process; methionine biosynthetic process; methionine metabolic process; methylation; S-adenosylmethionine cycle; sulfur amino acid metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; xenobiotic metabolic process

Disease: Homocystinuria-megaloblastic Anemia, Cble Complementation Type; Neural Tube Defects, Folate-sensitive