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

Gene ID: 4548, updated on 27-Feb-2015
Official Symbol
MTRprovided by HGNC
Official Full Name
5-methyltetrahydrofolate-homocysteine methyltransferaseprovided by HGNC
Primary source
HGNC: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
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]
Orthologs
See MTR in MapViewer
Location:
1q43
Exon count:
34
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (236795281..236903981)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (236958581..237067281)

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

Clone Names

  • FLJ33168, FLJ43216, FLJ45386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
S-adenosylmethionine-homocysteine S-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
cobalamin binding IEA
Inferred from Electronic Annotation
more info
 
methionine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
methionine biosynthetic process IEA
Inferred from Electronic Annotation
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
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
methionine synthase
Names
methionine synthase
5-methyltetrahydrofolate-homocysteine methyltransferase 1
cobalamin-dependent methionine synthase
vitamin-B12 dependent methionine synthase
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 isoform 1

    See proteins identical to NP_000245.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    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
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:191261
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:371627
    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
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
  2. NM_001291939.1NP_001278868.1  methionine synthase isoform 2

    See proteins identical to NP_001278868.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AL359259, BC144095, CB241165, DC377743
    Consensus CDS
    CCDS73054.1
    UniProtKB/TrEMBL
    A0A0A6YYK0
    UniProtKB/Swiss-Prot
    Q99707
    Conserved Domains (5) summary
    COG0646
    Location:21340
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:191210
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:371627
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl00293
    Location:679846
    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, ...
  3. NM_001291940.1NP_001278869.1  methionine synthase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, which causes translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL359259, BC136440, BC144098, CB241165, DC377743
    UniProtKB/Swiss-Prot
    Q99707
    Conserved Domains (4) summary
    COG1410
    Location:2823
    MetH; Methionine synthase I, cobalamin-binding domain [Amino acid transport and metabolism]
    cd00740
    Location:1220
    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:264490
    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:557840
    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 Reference GRCh38 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005273143.2XP_005273200.1  

    Related
    ENSP00000441845, ENST00000535889
    Conserved Domains (5) summary
    COG0646
    Location:21340
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:191210
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:371627
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl00293
    Location:679846
    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
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    cd00740
    Location:371627
    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
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    TIGR02082
    Location:261136
    Methionine_synthase; 5-methyltetrahydrofolate--homocysteine methyltransferase
  3. XM_005273141.2XP_005273198.1  

    Conserved Domains (5) summary
    COG0646
    Location:20339
    MetH; Methionine synthase I (cobalamin-dependent), methyltransferase domain [Amino acid transport and metabolism]
    PRK09490
    Location:181260
    metH; B12-dependent methionine synthase; Provisional
    cd00740
    Location:370626
    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
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
  4. XM_006711770.1XP_006711833.1  

    Conserved Domains (5) summary
    COG1410
    Location:30918
    MetH; Methionine synthase I, cobalamin-binding domain [Amino acid transport and metabolism]
    cd00740
    Location:59315
    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
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl21457
    Location:228
    TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
  5. XM_005273145.2XP_005273202.1  

    Conserved Domains (3) summary
    cd02069
    Location:125351
    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
    Met_synt_B12; Vitamin B12 dependent methionine synthase, activation domain
    cl00219
    Location:181
    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 CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

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

Alternate HuRef

Genomic

  1. AC_000133.1 Alternate HuRef

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