Gene

mthfd1a

ID
ZDB-GENE-041001-127
Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1a, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Symbol
mthfd1a Nomenclature History
Previous Names
  • si:dkey-1h6.1 (1)
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to have methenyltetrahydrofolate cyclohydrolase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; cleft lip; developmental cardiac valvular defect; neural tube defect (multiple); and tetralogy of Fallot. Is expressed in anterior neural tube and optic cup. Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Lee et al., 2012
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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 mthfd1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
neural tube defect Alliance {Neural tube defects, folate-sensitive, susceptibility to} 601634
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
Associated With mthfd1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR020867 Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site
Domain IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
Domain IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
Family IPR000559 Formate-tetrahydrofolate ligase, FTHFS
Family IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036291 NAD(P)-binding domain superfamily
Homologous_superfamily IPR046346 Aminoacid dehydrogenase-like, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Aminoacid dehydrogenase-like, N-terminal domain superfamily Formate-tetrahydrofolate ligase, FTHFS NAD(P)-binding domain superfamily P-loop containing nucleoside triphosphate hydrolase Tetrahydrofolate dehydrogenase/cyclohydrolase Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
UniProtKB:Q5RIH2 919
UniProtKB:A0A8M6YUD7 906
Transcripts
Genome Browsers
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