InnateDB Protein
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IDBP-478414.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DHFR
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Protein Name
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dihydrofolate reductase
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Synonyms
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DHFRP1; DYR;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000426474
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InnateDB Gene
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IDBG-302986 (DHFR)
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Protein Structure
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Function |
Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1. {ECO:0000269PubMed:12096917, ECO:0000269PubMed:21876188}.
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Subcellular Localization |
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Disease Associations |
Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. {ECO:0000269PubMed:21310276, ECO:0000269PubMed:21310277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. {ECO:0000269PubMed:21310276}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001796
Dihydrofolate reductase domain
IPR012259
Dihydrofolate reductase
IPR024072
Dihydrofolate reductase-like domain
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PFAM |
PF00186
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PRINTS |
PR00070
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PIRSF |
PIRSF000194
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P00374
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PhosphoSite |
PhosphoSite-P00374
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TrEMBL |
B4DDD2
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UniProt Splice Variant |
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Entrez Gene |
1719
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UniGene |
Hs.83765
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RefSeq |
NP_001277283
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HUGO |
HGNC:2861
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OMIM |
126060
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CCDS |
CCDS47240
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HPRD |
00519
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IMGT |
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EMBL |
AC008434
AC010270
AK293146
AK312642
BC000192
BC003584
BC070280
BC071996
CH471084
EF445014
EU145592
J00138
J00139
J00140
K01612
K01613
K01614
V00507
X00855
X00856
X00857
X00858
X00859
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GenPept |
AAA58484
AAA58485
AAH00192
AAH03584
AAH70280
AAH71996
ABX57718
ACA06052
BAG35526
BAG56693
CAA23765
CAA25409
EAW95859
EAW95860
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