DHFR - dihydrofolate reductase Gene
Also Known as DYR; DHFR1; DHFRP1
Species: Homo sapiens
About DHFR
This gene has 7 transcripts (splice variants), 326 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 21.2), lymph node (RPKM 18.2) and 24 other tissues.
Summary
Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain Amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
DHFR Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000791.4 | NP_000782.1 | dihydrofolate reductase isoform 1 |
| NM_001290357.2 | NP_001277286.1 | dihydrofolate reductase isoform 3 |
| NR_110936.2 | ||
| NM_001290354.2 | NP_001277283.1 | dihydrofolate reductase isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables NADPH binding |
IDA
IDA: Inferred from direct assay
|
2303423 | GOA |
| enables dihydrofolate reductase activity |
IDA
IDA: Inferred from direct assay
|
2303423 | GOA |
| enables folic acid binding |
IDA
IDA: Inferred from direct assay
|
2303423 | GOA |
| enables mRNA binding |
IDA
IDA: Inferred from direct assay
|
21876184 | GOA |
| enables mRNA regulatory element binding translation repressor activity |
IDA
IDA: Inferred from direct assay
|
8490020 | GOA |
| enables sequence-specific mRNA binding |
IDA
IDA: Inferred from direct assay
|
8490020 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dihydrofolate metabolic process |
IDA
IDA: Inferred from direct assay
|
2303423 | GOA |
| involved in negative regulation of translation |
IDA
IDA: Inferred from direct assay
|
8490020 | GOA |
| involved in tetrahydrobiopterin biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
23707606 | GOA |
| involved in tetrahydrofolate biosynthetic process |
IDA
IDA: Inferred from direct assay
|
2303423 | GOA |
| involved in tetrahydrofolate metabolic process |
IDA
IDA: Inferred from direct assay
|
12096917 | GOA |
DHFR Protein Structure
DHFR_1: Dihydrofolate reductase (5 - 185)
- 0
- 100
- 187 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dihydrofolate reductase |
|
Recombinant DHFR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P79328 | DHFR Protein, Human (His) | P00374-1 (M1-D187) | ≥ 95%, as determined by reducing SDS-PAGE. |
DHFR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83590 | DHFR Antibody (YA3335) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Retinoblastoma |
|
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| Coccidiosis |
|
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| Lung Cancer |
|
|
| Anencephaly |
|
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| Osteogenic Sarcoma |
|
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| Childhood Acute Lymphocytic Leukemia |
|
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| Plasmodium Falciparum Malaria |
|
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| Pneumocystosis |
|
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| Arthrogryposis, Distal, Type 1c |
|
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| Cryptosporidiosis |
|
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| Subacute Leukemia |
|
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| Herpes Zoster |
|
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| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
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| Childhood Absence Epilepsy |
|
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| Pneumonia |
|
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| Fanconi Anemia, Complementation Group A |
|
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| Candida Glabrata |
|
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| Congenital Toxoplasmosis |
|
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| Parasitic Protozoa Infectious Disease |
|
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| Plasmodium Vivax Malaria |
|
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| Toxoplasmosis |
|
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| Folate Malabsorption, Hereditary |
|
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| Juvenile Rheumatoid Arthritis |
|
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| Malaria |
|
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| Immune Deficiency Disease |
|
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| Inherited Cancer-Predisposing Syndrome |
|
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| Ulcerative Stomatitis |
|
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| Tumor Predisposition Syndrome |
|
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| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
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| Lung Non-Squamous Non-Small Cell Carcinoma |
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2dd |
|
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| Leukemia, Acute Lymphoblastic |
|
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| T-Cell Acute Lymphoblastic Leukemia |
|
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| Ovarian Cancer |
|
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| Pancytopenia |
|
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| Deficiency Anemia |
|
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| Tetrahydrobiopterin Deficiency |
|
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| Neural Tube Defects |
|
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| Cutis Laxa, Autosomal Dominant 1 |
|
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| Colorectal Cancer |
|
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| Cystoisosporiasis |
|
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| Holoprosencephaly 6 |
|
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| Plasmodium Malariae Malaria |
|
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| Medulloblastoma |
|
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| Megaloblastic Anemia |
|
|
| Chorioretinitis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DHFR | RGD | RGD:2500 |
| Mus musculus | DHFR | MGD | MGI:94890 |
| Others | DHFR | NCBI |