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 enable methenyltetrahydrofolate cyclohydrolase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be active in cytosol. Is expressed in anterior neural tube and optic cup. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). 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 | Additional Resources | 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 | InterPro | 919 | ||||||||
| UniProtKB:A0A8M6YUD7 | InterPro | 906 | ||||||||
| UniProtKB:A0AB32TI49 | InterPro | 847 |
| 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