| GENE NAME | PCSK1 |
| CHROMOSOME | 5 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000175426 |
| UNIPROT ACCESSION NUMBER | P29120 |
| GO MOLECULAR FUNCTION | ['identical protein binding', 'serine-type endopeptidase activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-209952; R-HSA-264876; R-HSA-2980736; R-HSA-381771; R-HSA-392499; R-HSA-400508; R-HSA-400511; R-HSA-422085 |
| 3 combinations linked to PCSK1 | OLI1406; OLI1166; OLI132 |
| 3 variants linked to PCSK1 | PCSK1:c.239G>A, p.Arg80Gln; PCSK1:c.544-43T>G, ; PCSK1:c.2257A>C, p.Asn753His |
| 4 diseases linked to PCSK1 | Hypogonadotropic hypogonadism with absent puberty phenotype; MODY; Kallmann syndrome; Normosmic congenital hypogonadotropic hypogonadism |