Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.5.1.5
Oxidoreductases;
Acting on the CH-NH group of donors;
With NAD+ or NADP+ as acceptor;
methylenetetrahydrofolate dehydrogenase (NADP+)
3.5.4.9
Hydrolases;
Acting on carbon-nitrogen bonds, other than peptide bonds;
In cyclic amidines;
methenyltetrahydrofolate cyclohydrolase
6.3.4.3
Ligases;
Forming carbon-nitrogen bonds;
Other carbon-nitrogen ligases;
formate—tetrahydrofolate ligase
PDB | Resolution (Å) | PDB name |
---|---|---|
1A4I | 1.5 | HUMAN TETRAHYDROFOLATE DEHYDROGENASE / CYCLOHYDROLASE |
1DIA | 2.2 | HUMAN METHYLENETETRAHYDROFOLATE DEHYDROGENASE / CYCLOHYDROLASE COMPLEXED WITH NADP AND INHIBITOR LY249543 |
1DIB | 2.7 | HUMAN METHYLENETETRAHYDROFOLATE DEHYDROGENASE / CYCLOHYDROLASE COMPLEXED WITH NADP AND INHIBITOR LY345899 |
1DIG | 2.2 | HUMAN METHYLENETETRAHYDROFOLATE DEHYDROGENASE / CYCLOHYDROLASE COMPLEXED WITH NADP AND INHIBITOR LY374571 |
6ECP | 2.2 | The human methylenetetrahydrofolate dehydrogenase/cyclohydrolase (FolD) complexed with NADP and inhibitor LY249543 |
6ECQ | 2.7 | The human methylenetetrahydrofolate dehydrogenase/cyclohydrolase (FolD) complexed with NADP and inhibitor LY345899 |
6ECR | 2.2 | The human methylenetetrahydrofolate dehydrogenase/cyclohydrolase (FolD) complexed with NADP |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0009257 | 10-formyltetrahydrofolate biosynthetic process |
Biological Process | GO:0048702 | embryonic neurocranium morphogenesis |
Biological Process | GO:0048703 | embryonic viscerocranium morphogenesis |
Biological Process | GO:0007507 | heart development |
Biological Process | GO:0000105 | histidine biosynthetic process |
Biological Process | GO:0009086 | methionine biosynthetic process |
Biological Process | GO:0006555 | methionine metabolic process |
Biological Process | GO:0001843 | neural tube closure |
Biological Process | GO:0001780 | neutrophil homeostasis |
Biological Process | GO:0006730 | one-carbon metabolic process |
Biological Process | GO:0006164 | purine nucleotide biosynthetic process |
Biological Process | GO:0009152 | purine ribonucleotide biosynthetic process |
Biological Process | GO:0009070 | serine family amino acid biosynthetic process |
Biological Process | GO:0009069 | serine family amino acid metabolic process |
Biological Process | GO:0061053 | somite development |
Biological Process | GO:0035999 | tetrahydrofolate interconversion |
Biological Process | GO:0019346 | transsulfuration |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0004329 | formate-tetrahydrofolate ligase activity |
Molecular Function | GO:0004477 | methenyltetrahydrofolate cyclohydrolase activity |
Molecular Function | GO:0004487 | methylenetetrahydrofolate dehydrogenase (NAD+) activity |
Molecular Function | GO:0004488 | methylenetetrahydrofolate dehydrogenase (NADP+) activity |
Molecular Function | GO:0004486 | methylenetetrahydrofolate dehydrogenase NAD(P)+ activity |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0070062 | extracellular exosome |
Cellular Component | GO:0016020 | membrane |
Cellular Component | GO:0005739 | mitochondrion |
InterPro | InterPro name |
---|---|
IPR000559 | Formate-tetrahydrofolate ligase, FTHFS |
IPR000672 | Tetrahydrofolate dehydrogenase/cyclohydrolase |
IPR020628 | Formate-tetrahydrofolate ligase, FTHFS, conserved site |
IPR020630 | Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain |
IPR020631 | Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain |
IPR020867 | Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site |
IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
IPR036291 | NAD(P)-binding domain superfamily |
IPR046346 | Aminoacid dehydrogenase-like, N-terminal domain superfamily |
Pfam | Pfam name |
---|---|
PF00763 | Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain |
PF01268 | Formate--tetrahydrofolate ligase |
PF02882 | Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-196757 | Metabolism of folate and pterines | Leaf | R-HSA-1430728 | Metabolism |
Location | ECO term | Pubmed |
---|---|---|
Cytoplasm | ECO:0000305 | PubMed:3053686 |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000365 | Hearing impairment |
HP:0000964 | Eczema |
HP:0001250 | Seizure |
HP:0001256 | Intellectual disability, mild |
HP:0001876 | Pancytopenia |
HP:0001888 | Lymphopenia |
HP:0001889 | Megaloblastic anemia |
HP:0001894 | Thrombocytosis |
HP:0001939 | Abnormality of metabolism/homeostasis |
HP:0001972 | Macrocytic anemia |
HP:0002013 | Vomiting |
HP:0002160 | Hyperhomocystinemia |
HP:0002719 | Recurrent infections |
HP:0002960 | Autoimmunity |
HP:0003095 | Septic arthritis |
HP:0003223 | Decreased methylcobalamin |
HP:0003593 | Infantile onset |
HP:0004313 | Decreased circulating antibody level |
HP:0004430 | Severe combined immunodeficiency |
HP:0004821 | Hypersegmentation of neutrophil nuclei |
HP:0006532 | Recurrent pneumonia |
HP:0010301 | Spinal dysraphism |
HP:0010972 | Anemia of inadequate production |
HP:0025406 | Asthenia |
HP:0025435 | Increased circulating lactate dehydrogenase concentration |
HP:0025517 | Hypoplastic hippocampus |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
colorectal cancer | MONDO:0005575 | C18 | chapter2, Neoplasms | OMIM:114500 | Orphanet:466667 |
neural tube defects, folate-sensitive | MONDO:0011120 | Q05 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:601634 | |
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | MONDO:0060611 | - | - | OMIM:617780 |