Gene
mtr
- ID
- ZDB-GENE-031001-5
- Name
- 5-methyltetrahydrofolate-homocysteine methyltransferase
- Symbol
- mtr Nomenclature History
- Previous Names
-
- cb830 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have cobalamin binding activity; methionine synthase activity; and zinc ion binding activity. Predicted to be involved in methionine biosynthetic process; methylation; and pteridine-containing compound metabolic process. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in several diseases, including IgA glomerulonephritis; autistic disorder; hematologic cancer (multiple); hyperhomocysteinemia; and methylmalonic aciduria and homocystinuria type cblG. Is expressed in several structures, including anterior neural tube; central nervous system; digestive system; immature eye; and mesoderm. Orthologous to human MTR (5-methyltetrahydrofolate-homocysteine methyltransferase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb830 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| homocystinuria-megaloblastic anemia cblG type | Alliance | Homocystinuria-megaloblastic anemia, cblG complementation type | 250940 |
| neural tube defect | Alliance | {Neural tube defects, folate-sensitive, susceptibility to} | 601634 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000489 | Pterin-binding domain |
| Domain | IPR003726 | Homocysteine-binding domain |
| Domain | IPR003759 | Cobalamin (vitamin B12)-binding module, cap domain |
| Domain | IPR004223 | Vitamin B12-dependent methionine synthase, activation domain |
| Domain | IPR006158 | Cobalamin (vitamin B12)-binding domain |
| Domain | IPR033706 | Methionine synthase, B12-binding domain |
| Family | IPR011822 | Cobalamin-dependent methionine synthase |
| Homologous_superfamily | IPR011005 | Dihydropteroate synthase-like superfamily |
| Homologous_superfamily | IPR036589 | Homocysteine-binding domain superfamily |
| Homologous_superfamily | IPR036594 | Methionine synthase domain |
| Homologous_superfamily | IPR036724 | Cobalamin-binding domain superfamily |
| Homologous_superfamily | IPR037010 | Vitamin B12-dependent methionine synthase, activation domain superfamily |
Domain Details Per Protein
| Protein | Length | Cobalamin-binding domain superfamily | Cobalamin-dependent methionine synthase | Cobalamin (vitamin B12)-binding domain | Cobalamin (vitamin B12)-binding module, cap domain | Dihydropteroate synthase-like superfamily | Homocysteine-binding domain | Homocysteine-binding domain superfamily | Methionine synthase, B12-binding domain | Methionine synthase domain | Pterin-binding domain | Vitamin B12-dependent methionine synthase, activation domain | Vitamin B12-dependent methionine synthase, activation domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8JIY6
|
1263 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available