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Sequence in raw or FASTA format:

Database:

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MTR 5-methyltetrahydrofolate-homocysteine methyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000254 Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001291939 Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001291940 Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005273141 PREDICTED: Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005273145 PREDICTED: Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006711769 PREDICTED: Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006711770 PREDICTED: Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $899.00 20

*Business Day

Related Services

Gene Symbol MTR
Entrez Gene ID 4548
Full Name 5-methyltetrahydrofolate-homocysteine methyltransferase
Synonyms HMAG, MS, cblG
General protein information
Preferred Names
methionine synthase
Names
methionine synthase
cobalamin-dependent methionine synthase
vitamin-B12 dependent methionine synthase
5-methyltetrahydrofolate-homocysteine methyltransferase 1
NP_000245.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q43

Summary This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014].
Disorder

MIM: 156570

Methylcobalamin deficiency, cblG type, 250940 (3); {Neural tube

mRNA Protein Product Sequence Price Select
NM_000254, 169790922 NP_000245, 169790923 methionine synthase isoform 1 ORF Sequence $1500.00
NM_001291939, 633257780 NP_001278868, 633257781 methionine synthase isoform 2 ORF Sequence $1500.00
NM_001291940, 633257782 NP_001278869, 633257783 methionine synthase isoform 3 ORF Sequence $750.00
XM_005273141, 578802219 XP_005273198, 530366222 methionine synthase isoform X2 ORF Sequence $1500.00
XM_005273145, 578802225 XP_005273202, 530366230 methionine synthase isoform X6 ORF Sequence $700.00
XM_006711769, 578802221 XP_006711832, 578802222 methionine synthase isoform X7 ORF Sequence $1500.00
XM_006711770, 578802223 XP_006711833, 578802224 methionine synthase isoform X8 ORF Sequence $750.00
KEGG
hsa00670One carbon pool by folate
hsa00450Selenocompound metabolism
hsa00270Cysteine and methionine metabolism
hsa01230Biosynthesis of amino acids
WikiPathways
WP241One Carbon Metabolism
WP15Selenium Pathway
WP2333Trans-sulfuration pathway
WP2525Trans-sulfuration and one carbon metabolism
BIOCYC
HUMAN_PWY-2201folate transformations I
HUMAN_ADENOSYLHOMOCYSCAT-PWYmethionine salvage II (mammalia)
HUMAN_PWY-5328superpathway of methionine degradation
Reactome
REACT_13433Biological oxidations
REACT_6946Methylation
REACT_6959Phase II conjugation
REACT_13Metabolism of amino acids and derivatives
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11193Metabolism of vitamins and cofactors
REACT_111217Metabolism
REACT_115639Sulfur amino acid metabolism
REACT_116125Disease
REACT_163862Cobalamin (Cbl, vitamin B12) transport and metabolism
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169385Defects in vitamin and cofactor metabolism
REACT_169238Defects in biotin (Btn) metabolism
REACT_169403Defective BTD causes biotidinase deficiency
Homo sapiens (human)MTRNP_000245.2
Pan troglodytes (chimpanzee)MTRXP_514294.2
Macaca mulatta (Rhesus monkey)MTRXP_001109238.1
Canis lupus familiaris (dog)MTRXP_005618839.1
Bos taurus (cattle)MTRNP_001025469.1
Mus musculus (house mouse)MtrNP_001074597.1
Rattus norvegicus (Norway rat)MtrNP_110491.1
Gallus gallus (chicken)MTRNP_001026275.1
Danio rerio (zebrafish)mtrNP_932338.1
Caenorhabditis elegansmetr-1NP_496353.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100488827XP_002933914.1
Process
IDNameEvidence
GO:0000096sulfur amino acid metabolic processTAS
GO:0006766vitamin metabolic processTAS
GO:0006767water-soluble vitamin metabolic processTAS
GO:0006805xenobiotic metabolic processTAS
GO:0007399nervous system developmentTAS
GO:0009086methionine biosynthetic processIEA
GO:0009235cobalamin metabolic processTAS
GO:0032259methylationTAS
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0042558pteridine-containing compound metabolic processIEA
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0008270zinc ion bindingIEA
GO:0008705methionine synthase activityIEA
GO:0008898S-adenosylmethionine-homocysteine S-methyltransferase activityIEA
GO:0031419cobalamin bindingIEA
GeneCards MTR
PDB 2O2K, 4CCZ
UniProt B7ZLW7, Q99707
Vega OTTHUMG00000040060
MIM 156570
Ensembl ENSG00000116984
HGNC 7468
HPRD 01136

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MTR gene?

The MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.

Interactant

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