Official symbol | PCBD1 |
Gene id | 5092 |
Organism | Homo sapiens |
Official full symbol | pterin-4 alpha-carbinolamine dehydratase 1 |
Gene type | protein-coding |
Also known as | DCOH, PCBD, PCD, PHS |
Summary | This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 10 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PCBD1-201 | ENST00000299299.4 | 787 | 104aa | Protein coding | CCDS31217 | P61457 | NM_000281.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PCBD1-202 | ENST00000493228.1 | 732 | No protein | Processed transcript | - | - | - | TSL:2, |
PCBD1-203 | ENST00000493961.5 | 389 | No protein | Processed transcript | - | - | - | TSL:2, |
Target Gene | PCBD1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PCBD1 had been KO in hek293t cell line. |
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