| Gene Information | |
|---|---|
| Gene Name | GCH |
| Organism | Homo sapiens (Human) |
| Gene Length | 250 |
| Protein Names | GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP-CH-I) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P30793 |
| Gene Card | GCH1 |
| Uniprot ID | P30793 |
| Pfam | PF01227 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO:0000269|PubMed:16778797}. |
| Pharmacological Animal Models | 0.350380(Chimpanzee);0.027573(Mouse);0.010990(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
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| PDB | 1FB1 (X-ray 3.10A ) 6Z80 (EM 3.00A ) 6Z85 (EM 2.90A ) 6Z86 (X-ray 2.21A ) 6Z87 (X-ray 2.56A ) 6Z88 (X-ray 2.69A ) 6Z89 (X-ray 2.37A ) 7ALA (X-ray 1.85A ) 7ALB (X-ray 1.98A ) 7ALC (X-ray 1.73A ) 7ALQ (X-ray 2.21A ) |
| DBSNP | rs41298432 rs104894433 rs104894435 rs1393095176 rs104894437 rs104894441 rs104894440 rs104894445 rs762208304 rs104894438 rs988395114 rs104894443 rs1348562494 rs104894434 rs41298442 rs1375209791 rs104894442 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:12176133, ECO:0000269|PubMed:16778797, ECO:0000269|PubMed:2463916}. Nucleus {ECO:0000269|PubMed:16778797}. |
| Mouse PG classification | NA |
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