AlphaFold predicted structure
PCSK1 · P29120
Mean pLDDT
82.5/ 100
Confident
753 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)9%
- Low(50–70)9%
- Very low(< 50)16%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PCSK1
Chr 5q15proprotein convertase subtilisin/kexin type 1
- Aliases:
- PC1, PC3, SPC3, PC1/3
- MANE:
- ENST00000311106.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomalSevere early-onset obesity
BIALLELIC, autosomal or pseudoautosomalPituitary hormone deficiency
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
obesity due to prohormone convertase I deficiency
0.77Abnormality of the skeletal system
0.52obesity disorder
0.47gestational diabetes
0.46osteoarthritis, knee
0.45aneurysm
0.44aortic aneurysm
0.44smoking initiation
0.43obesity due to melanocortin 4 receptor deficiency
0.41osteoarthritis, hip
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Neuroendocrine convertase 1
Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, oxytocin, vasopressin, enkephalin, dynorphin, somatostatin, insulin and AGRP
Diseases associated with PCSK1
Curated MONDO disease pages that list PCSK1 among their top associated genes.