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
-
- 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
- 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 |
|---|---|---|---|
| neural tube defect | Alliance | {Neural tube defects, folate-sensitive, susceptibility to} | 601634 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 617780 |
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 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mthfd1a-201
(1)
|
Ensembl | 4,017 nt | ||
| mRNA |
mthfd1a-202
(1)
|
Ensembl | 7,660 nt | ||
| mRNA |
mthfd1a-203
(1)
|
Ensembl | 7,671 nt |
Interactions and Pathways
No data available
Plasmids
No data available