| Gene Symbol |
GCH1
|
| Entrez Gene |
2643
|
| Alt Symbol |
DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
GTP cyclohydrolase 1
|
| Other Description |
GTP cyclohydrolase I|GTP-CH-I|dystonia 14|guanosine 5'-triphosphate cyclohydrolase I
|
| Swissprots |
Q9Y4I8 P30793 Q6FHY7
|
| Accessions |
AAB42186 AAB60633 CAA83213 EAW80647 EAW80648 EAW80649 EAW80650 EAW80651 EAW80652 EAW80653 P30793 AF321276 AAK51704 AY137463 AAN17459 AY137464 AAN17460 AY137465 AAN17461 BC025415 AAH25415 BM971258 CR536551 CAG38788 DQ892998 ABM83924 DQ896245 ABM87244 S43856 AAB23166 S44049 AAB23164 S44053 AAB23165 U19523 AAB16861 U66095 AAD38866 U66097 AAD38868 Z16418 CAA78908 Z29433 CAB77391 Z29434 CAB77392 XM_005267530 XP_005267587 XM_011536643 XP_011534945 NM_000161 NP_000152 NM_001024024 NP_001019195 NM_001024070 NP_001019241 NM_001024071 NP_001019242
|
| Function |
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. {ECO:0000269|PubMed:12176133, ECO:0000269|PubMed:16338639, ECO:0000269|PubMed:17057711, ECO:0000269|PubMed:8068008, ECO:0000269|PubMed:9445252}.
|
| Subcellular Location |
Cytoplasm. Nucleus.
|
| Tissue Specificity |
In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO:0000269|PubMed:16778797}.
|
| Top Pathways |
Folate biosynthesis
|
![Western Blot: GCH1 Overexpression Lysate (Adult Normal) [NBL1-11007] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for GCH1.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/6898_GCH1%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-11007-img0002.jpg)