Official symbol | GCH1 |
Gene id | 2643 |
Organism | Homo sapiens |
Official full symbol | GTP cyclohydrolase 1 |
Gene type | protein-coding |
Also known as | DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B |
Summary | This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. |
Genomic regions | Chromosome 14 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
GCH1-204 | ENST00000491895.7 | 2916 | 250aa | Protein coding | CCDS9720 | P30793-1 | NM_000161.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
GCH1-202 | ENST00000395514.5 | 1977 | 250aa | Protein coding | CCDS9720 | P30793-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
GCH1-206 | ENST00000543643.6 | 1897 | 233aa | Protein coding | CCDS41954 | P30793-4 | - | TSL:1, GENCODE basic, |
GCH1-205 | ENST00000536224.2 | 1805 | 213aa | Protein coding | CCDS45110 | P30793-2 | - | TSL:1, GENCODE basic, |
GCH1-201 | ENST00000254299.8 | 2901 | No protein | Processed transcript | - | - | - | TSL:1, |
GCH1-203 | ENST00000395521.6 | 351 | No protein | Processed transcript | - | - | - | TSL:1, |
Target Gene | GCH1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene GCH1 had been KO in a549 cell line. |
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