Tbio MTR Methionine synthase

Protein Classes

DTO Classes

S-adenosylmethionine Synthase Isoform Type-1 / S-adenosylmethionine Synthase Isoform Type-2

Protein Summary

Description

Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity). 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]

Uniprot Accession IDs

• Q99707
• A1L4N8
• A9Z1W4
• B7ZLW7
• B9EGF7
• Q99713
• Q99723

Gene Name

• MTR

Ensembl ID

• ENST00000366577
• ENSP00000355536
• ENSG00000116984
• ENST00000535889
• ENSP00000441845

Symbol

• MS
• HMAG
• cblG

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.92
virus perturbation	0.92
biological term	0.81
molecular function	0.79
disease	0.77

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1355.07   (req: < 5)

Gene RIFs: 186   (req: <= 3)

Antibodies: 138   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1355.07   (req: >= 5)

Gene RIFs: 186   (req: > 3)

Antibodies: 138   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (1)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
homocysteine measurement	EFO_0004578	1	1	1		57.6

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
homocysteine measurement	EFO_0004578	1		57.6

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Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	5-methyltetrahydrofolate-homocysteine methyltransferase	VGNC:1338	457844
Macaque	5-methyltetrahydrofolate-homocysteine methyltransferase		717582
Mouse	5-methyltetrahydrofolate-homocysteine methyltransferase	MGI:894292	238505
Rat	5-methyltetrahydrofolate-homocysteine methyltransferase	RGD:621283	81522
Dog	5-methyltetrahydrofolate-homocysteine methyltransferase	VGNC:43491	479190

Species	Name	OMA	EggNOG	Inparanoid
Chimp	5-methyltetrahydrofolate-homocysteine methyltransferase
Macaque	5-methyltetrahydrofolate-homocysteine methyltransferase
Mouse	5-methyltetrahydrofolate-homocysteine methyltransferase
Rat	5-methyltetrahydrofolate-homocysteine methyltransferase
Dog	5-methyltetrahydrofolate-homocysteine methyltransferase

Protein Structure (2 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q99707-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (40)

Reactome (15)

KEGG (5)

PathwayCommons (5)

UniProt (1)

WikiPathways (14)

Biological oxidations (R-HSA-211859)

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Find Similar Targets

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Biological oxidations	221 targets	R-HSA-211859
Reactome	Cobalamin (Cbl, vitamin B12) transport and metabolism	19 targets	R-HSA-196741
Reactome	Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	2 targets	R-HSA-3359469
Reactome	Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE	2 targets	R-HSA-3359467
Reactome	Defects in cobalamin (B12) metabolism	12 targets	R-HSA-3296469

Name	Explore in Pharos	Explore in Source
Biological oxidations	221 targets	R-HSA-211859
Cobalamin (Cbl, vitamin B12) transport and metabolism	19 targets	R-HSA-196741
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	2 targets	R-HSA-3359469
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE	2 targets	R-HSA-3359467
Defects in cobalamin (B12) metabolism	12 targets	R-HSA-3296469

Gene Ontology Terms (11)

Functions (3)

Components (1)

Processes (7)

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Items per page:

10

1 – 3 of 3

GO Term	Evidence	Assigned by
methionine synthase activity	Inferred from Direct Assay (IDA)	CACAO
cobalamin binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
zinc ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Protein-Protein Interactions (102)

Explore Interacting Targets

1 – 10 of 102

• See Interactions on String-DB

INSYN2

Tdark

Novelty: 2.55244594

p_int: 0.977819887

p_ni: 0.022180113

Data Source: BioPlex

AKAP13

Tbio

Family: Enzyme

Novelty: 0.00726267

p_int: 0.973033889

p_ni: 0.026966111

Score: 0.547

Data Source: BioPlex,STRINGDB

DOCK5

Tbio

Novelty: 0.03153692

p_int: 0.940998113

p_ni: 0.059001887

Data Source: BioPlex

LINC01587

Tdark

Novelty: 0.48128342

p_int: 0.82455828

p_ni: 0.17544172

Score: 0.169

Data Source: BioPlex,STRINGDB

IQCF1

Tdark

Novelty: 0.78525464

p_int: 0.798867618

p_ni: 0.201132382

Data Source: BioPlex

LPCAT1

Tbio

Family: Enzyme

Novelty: 0.01441133

p_int: 0.77719851

p_ni: 0.22280149

Score: 0.332

Data Source: BioPlex,STRINGDB

SPATA5L1

Tdark

Family: Enzyme

Novelty: 0.5393372

p_int: 0.75330537

p_ni: 0.24669463

Score: 0.189

Data Source: BioPlex,STRINGDB

MTRR

Tbio

Family: Enzyme

Novelty: 0.00231914

Score: 0.996

Data Source: Reactome,STRINGDB

MTHFR

Tbio

Family: Enzyme

Novelty: 0.00018162

Score: 0.995

Data Source: STRINGDB

MMADHC

Tbio

Novelty: 0.02299238

Score: 0.991

Data Source: STRINGDB

Publication Statistics

PubMed Score  1355.07

PubMed score by year

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PubTator Score  382.59

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Amino-acid biosynthesis
Cobalamin
Cobalt
Complete proteome
Cytoplasm
Disease mutation
Metal-binding
Methionine biosynthesis

GWAS Trait Find Similar Targets

homocysteine measurement

MGI Phenotype Find Similar Targets

homeostasis/metabolism phenotype
mortality/aging