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 act upstream of or within one-carbon metabolic process. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa1702 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14993 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23722 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32295 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32296 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37049 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43457 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
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
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-1H6 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068215648 (1) | 4107 nt | ||
| Genomic | GenBank:BX255917 (1) | 218068 nt | ||
| Polypeptide | UniProtKB:Q5RIH2 (1) | 919 aa |
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Lee, M.S., Bonner, J.R., Bernard, D.J., Sanchez, E.L., Sause, E.T., Prentice, R.R., Burgess, S.M., and Brody, L.C. (2012) Disruption of the folate pathway in zebrafish causes developmental defects. BMC Developmental Biology. 12(1):12
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