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
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mtr Human Ortholog
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
Associated With mtr Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Family IPR050554 Methionine Synthase/Corrinoid
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/Corrinoid Methionine synthase domain Pterin-binding domain Vitamin B12-dependent methionine synthase, activation domain Vitamin B12-dependent methionine synthase, activation domain superfamily
UniProtKB:Q8JIY6 1263
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations