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

Gene ID: 4548, updated on 13-Apr-2014
Official Symbol
MTRprovided by HGNC
Official Full Name
5-methyltetrahydrofolate-homocysteine methyltransferaseprovided by HGNC
Primary source
HGNC:7468
See related
Ensembl:ENSG00000116984; HPRD:01136; MIM:156570; Vega:OTTHUMG00000040060
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MS; HMAG; cblG
Summary
MTR encodes the enzyme 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. [provided by RefSeq, Jul 2008]
Location :
1q43
Sequence :
Chromosome: 1; NC_000001.11 (236795281..236903981)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lectin, galactoside-binding, soluble, 8 Neighboring gene HEAT repeat containing 1 Neighboring gene actinin, alpha 2 Neighboring gene ribosomal protein SA pseudogene 21 Neighboring gene ribosomal protein L35 pseudogene 1 Neighboring gene metallothionein 1H-like 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
homocysteine S-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
methionine synthase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
methylation TAS
Traceable Author Statement
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
pteridine-containing compound metabolic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
methionine synthase
Names
methionine synthase
cobalamin-dependent methionine synthase
vitamin-B12 dependent methionine synthase
5-methyltetrahydrofolate-homocysteine methyltransferase 1
NP_000245.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008959.1 RefSeqGene

    Range
    5001..113701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000254.2NP_000245.2  methionine synthase

    See proteins identical to NP_000245.2

    Status: REVIEWED

    Source sequence(s)
    AL359259, DC377743, U73338, U75743
    Consensus CDS
    CCDS1614.1
    UniProtKB/Swiss-Prot
    Q99707
    Related
    ENSP00000355536, OTTHUMP00000037964, ENST00000366577, OTTHUMT00000096632
    Conserved Domains (5) summary
    COG0646
    Location:21340
    Blast Score: 1051
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:191261
    Blast Score: 5580
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:371627
    Blast Score: 1084
    MeTr; MeTr subgroup of pterin binding enzymes. This family includes cobalamin-dependent methyltransferases such as methyltetrahydrofolate, corrinoid iron-sulfur protein methyltransferase (MeTr) and methionine synthase (MetH). Cobalamin-dependent ...
    cd02069
    Location:671897
    Blast Score: 1035
    methionine_synthase_B12_BD; B12 binding domain of methionine synthase. This domain binds methylcobalamin, which it uses as an intermediate methyl carrier from methyltetrahydrofolate (CH3H4folate) to homocysteine (Hcy).
    pfam02965
    Location:9641247
    Blast Score: 533
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11

    Range
    236795281..236903981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273143.2XP_005273200.1  

    See proteins identical to XP_005273200.1

    UniProtKB/TrEMBL
    B7ZLW7
    Related
    ENSP00000441845
    Conserved Domains (5) summary
    COG0646
    Location:21340
    Blast Score: 1051
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:191210
    Blast Score: 5253
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:371627
    Blast Score: 1085
    MeTr; MeTr subgroup of pterin binding enzymes. This family includes cobalamin-dependent methyltransferases such as methyltetrahydrofolate, corrinoid iron-sulfur protein methyltransferase (MeTr) and methionine synthase (MetH). Cobalamin-dependent ...
    pfam02965
    Location:9131196
    Blast Score: 532
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl00293
    Location:679846
    Blast Score: 738
    B12-binding_like; B12 binding domain (B12-BD). Most of the members bind different cobalamid derivates, like B12 (adenosylcobamide) or methylcobalamin or methyl-Co(III) 5-hydroxybenzimidazolylcobamide. This domain is found in several enzymes, such as glutamate mutase, ...
  2. XM_006711769.1XP_006711832.1  

    Conserved Domains (5) summary
    COG0646
    Location:21340
    Blast Score: 1049
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    TIGR02082
    Location:261136
    Blast Score: 4968
    metH; 5-methyltetrahydrofolate--homocysteine methyltransferase
    cd00740
    Location:371627
    Blast Score: 1083
    MeTr; MeTr subgroup of pterin binding enzymes. This family includes cobalamin-dependent methyltransferases such as methyltetrahydrofolate, corrinoid iron-sulfur protein methyltransferase (MeTr) and methionine synthase (MetH). Cobalamin-dependent ...
    cd02069
    Location:671897
    Blast Score: 1031
    methionine_synthase_B12_BD; B12 binding domain of methionine synthase. This domain binds methylcobalamin, which it uses as an intermediate methyl carrier from methyltetrahydrofolate (CH3H4folate) to homocysteine (Hcy).
    pfam02965
    Location:9641135
    Blast Score: 212
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
  3. XM_005273141.2XP_005273198.1  

    Conserved Domains (5) summary
    COG0646
    Location:20339
    Blast Score: 1051
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:181260
    Blast Score: 5580
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:370626
    Blast Score: 1084
    MeTr; MeTr subgroup of pterin binding enzymes. This family includes cobalamin-dependent methyltransferases such as methyltetrahydrofolate, corrinoid iron-sulfur protein methyltransferase (MeTr) and methionine synthase (MetH). Cobalamin-dependent ...
    cd02069
    Location:670896
    Blast Score: 1035
    methionine_synthase_B12_BD; B12 binding domain of methionine synthase. This domain binds methylcobalamin, which it uses as an intermediate methyl carrier from methyltetrahydrofolate (CH3H4folate) to homocysteine (Hcy).
    pfam02965
    Location:9631246
    Blast Score: 533
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
  4. XM_006711770.1XP_006711833.1  

    Conserved Domains (5) summary
    COG1410
    Location:30918
    Blast Score: 2858
    MetH; Methionine synthase I, cobalamin-binding domain [Amino acid transport and metabolism]
    cd00740
    Location:59315
    Blast Score: 1084
    MeTr; MeTr subgroup of pterin binding enzymes. This family includes cobalamin-dependent methyltransferases such as methyltetrahydrofolate, corrinoid iron-sulfur protein methyltransferase (MeTr) and methionine synthase (MetH). Cobalamin-dependent ...
    cd02069
    Location:359585
    Blast Score: 1033
    methionine_synthase_B12_BD; B12 binding domain of methionine synthase. This domain binds methylcobalamin, which it uses as an intermediate methyl carrier from methyltetrahydrofolate (CH3H4folate) to homocysteine (Hcy).
    pfam02965
    Location:652935
    Blast Score: 530
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl14105
    Location:228
    Blast Score: 148
    S-methyl_trans; Homocysteine S-methyltransferase
  5. XM_005273145.2XP_005273202.1  

    Conserved Domains (3) summary
    cd02069
    Location:125351
    Blast Score: 1035
    methionine_synthase_B12_BD; B12 binding domain of methionine synthase. This domain binds methylcobalamin, which it uses as an intermediate methyl carrier from methyltetrahydrofolate (CH3H4folate) to homocysteine (Hcy).
    pfam02965
    Location:418701
    Blast Score: 530
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl00219
    Location:181
    Blast Score: 335
    Pterin_binding; Pterin binding enzymes. This family includes dihydropteroate synthase (DHPS) and cobalamin-dependent methyltransferases such as methyltetrahydrofolate, corrinoid iron-sulfur protein methyltransferase (MeTr) and methionine synthase (MetH). DHPS, a ...

Alternate HuRef

Genomic

  1. AC_000133.1 Alternate HuRef

    Range
    207414687..207523271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    238230032..238338720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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