| Tag | Content |
|---|---|
| Uniprot ID | P00374; B4DDD2; Q14130; Q6IRW8; |
| Entrez ID | 1719 |
| Genbank protein ID | CAA23765.1; AAH00192.1; AAH71996.1; AAA58485.1; AAH03584.2; AAH70280.1; BAG56693.1; AAA58484.1; CAA25409.1; |
| Genbank nucleotide ID | NM_001290354.1; NM_000791.3; |
| Ensembl protein ID | ENSP00000426474; ENSP00000396308; ENSP00000421334; |
| Ensembl nucleotide ID | ENSG00000228716 |
| Gene name | Dihydrofolate reductase |
| Gene symbol | DHFR |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 24361572; 26221921; |
| Functional description | 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 DHFR2. |
| Sequence | MVGSLNCIVA VSQNMGIGKN GDLPWPPLRN EFRYFQRMTT TSSVEGKQNL VIMGKKTWFS 60 IPEKNRPLKG RINLVLSREL KEPPQGAHFL SRSLDDALKL TEQPELANKV DMVWIVGGSS 120 VYKEAMNHPG HLKLFVTRIM QDFESDTFFP EIDLEKYKLL PEYPGVLSDV QEEKGIKYKF 180 EVYEKND 187 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.