Gene
mthfd1b
- ID
- ZDB-GENE-020905-4
- Name
- methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1b
- Symbol
- mthfd1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in 10-formyltetrahydrofolate biosynthetic process and purine nucleobase biosynthetic process. Predicted to localize to cytoplasm. 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 several structures, including anterior neural tube; digestive system; immature eye; nervous system; and optic primordium. Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb325 (13 images)
- IMAGE:6912136 (10 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 |
|---|---|---|---|
| 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 | IPR020628 | Formate-tetrahydrofolate ligase, FTHFS, conserved site |
| 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 | Formate-tetrahydrofolate ligase, FTHFS, conserved site | 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:Q7ZVV5
|
934 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
mthfd1b-203
(1)
|
Ensembl | 332 nt | ||
| mRNA |
mthfd1b-201
(1)
|
Ensembl | 3,134 nt | ||
| mRNA |
mthfd1b-204
(1)
|
Ensembl | 349 nt | ||
| ncRNA |
mthfd1b-003
(1)
|
Ensembl | 487 nt |
Interactions and Pathways
No data available
Plasmids
No data available