Version 5.4
| Homo sapiens Gene: DHFR | |||||||||||||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||||||||||||
| InnateDB Gene | IDBG-302986.4 | ||||||||||||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||
| Gene Symbol | DHFR | ||||||||||||||||||||||||||||||||
| Gene Name | dihydrofolate reductase | ||||||||||||||||||||||||||||||||
| Synonyms | DHFRP1; DYR | ||||||||||||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||||||||||||
| Ensembl Gene | ENSG00000228716 | ||||||||||||||||||||||||||||||||
| Encoded Proteins |
dihydrofolate reductase
dihydrofolate reductase
dihydrofolate reductase
dihydrofolate reductase
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| Protein Structure | |||||||||||||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||||||||||
| 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. [provided by RefSeq, Jul 2008] 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] |
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| Gene Information | |||||||||||||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||||||||||||
| Genomic Location | Chromosome 5:80626228-80654983 | ||||||||||||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||||||||||||
| Band | q14.1 | ||||||||||||||||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||||||||||||
| REACTOME |
G1/S-Specific Transcription pathway
E2F mediated regulation of DNA replication pathway
Metabolism of folate and pterines pathway
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
eNOS activation and regulation pathway
Mitotic G1-G1/S phases pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Metabolism of nitric oxide pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
G1/S Transition pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Cell Cycle pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Cell Cycle, Mitotic pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
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| KEGG |
One carbon pool by folate pathway
Folate biosynthesis pathway
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| INOH |
Folate metabolism pathway
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| PID NCI |
E2F transcription factor network
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| Cross-References | |||||||||||||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||||||||||
| UniGene | Hs.592364 Hs.648635 Hs.709847 Hs.83765 | ||||||||||||||||||||||||||||||||
| RefSeq | NM_000791 XM_005248455 | ||||||||||||||||||||||||||||||||
| HUGO | |||||||||||||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||||||||||||
| CCDS | CCDS47240 | ||||||||||||||||||||||||||||||||
| HPRD | 00519 | ||||||||||||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||||||||||||