| Tag | Content |
|---|---|
| Uniprot ID | P30793; Q6FHY7; Q9Y4I8; |
| Entrez ID | 2643 |
| Genbank protein ID | AAB16861.1; AAB42186.1; CAA83213.1; AAB23166.1; AAH25415.1; CAB77391.1; CAG38788.1; EAW80647.1; AAB60633.1; AAD38866.1; AAB23165.1; CAB77392.1; AAB23164.1; AAD38868.1; CAA78908.1; |
| Genbank nucleotide ID | NM_000161.2; NM_001024070.1; NM_001024071.1; NM_001024024.1; |
| Ensembl protein ID | ENSP00000445246; ENSP00000477796; ENSP00000419045; ENSP00000378890; ENSP00000444011; |
| Ensembl nucleotide ID | ENSG00000131979 |
| Gene name | GTP cyclohydrolase 1 |
| Gene symbol | GCH1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 26215833 |
| Functional description | Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. |
| Sequence | MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS 60 EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA 120 IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ 180 VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT 240 REEFLTLIRS |
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.