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Gene

mthfd1b

ID
ZDB-GENE-020905-4
Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1b
Symbol
mthfd1b Nomenclature History
Previous Names
  • mthfd1 (1)
  • cb325 (1)
  • fc29f07
  • formyltetrahydrofolate synthetase
  • methenyltetrahydrofolate cyclohydrolase
  • wu:fc29f07
Type
protein_coding_gene
Location
Chr: 17 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 several structures, including anterior neural tube; digestive system; immature eye; nervous system; and optic primordium. 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. Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
13 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 mthfd1b 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 mthfd1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Domain Details Per Protein
Protein Length 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:K7DYD3 32
UniProtKB:F1QXP5 934
UniProtKB:K7DYA3 73
UniProtKB:Q6DI12 934
UniProtKB:Q7ZVV5 934
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