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Gene

PCSK1

PCSK1 is a gene biomarker in the evidence tier "FDA companion diagnostic". This page lists evidence by type: FDA companion diagnostic assertions (1), Trial mentions (16), Target-disease associations (347), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000175426 UniProt P29120 Matched to Ensembl and UniProt
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FDA companion diagnostic assertions FDA companion diagnostic assertions 1 Trial mentions Trial mentions 16 Target-disease associations Target-disease associations 347 Vendor sourcing Vendor sourcing 52 Trial-cited literature Trial-cited literature 168 Protein variant mentions Protein variant mentions 16 Human sample screening reference Human sample screening reference 1 Literature-extracted relations Literature-extracted relations 35 FDA companion diagnostic assertions FDA companion diagnostic assertions 1 Trial mentions Trial mentions 16 Target-disease associations Target-disease associations 347 Vendor sourcing Vendor sourcing 52 Trial-cited literature Trial-cited literature 168 Protein variant mentions Protein variant mentions 16 Human sample screening reference Human sample screening reference 1 Literature-extracted relations Literature-extracted relations 35

Rows recorded per section (log scale)

1 more section with rows · 3 sections measured, none recorded

FDA companion diagnostic

An FDA-cleared or approved companion diagnostic names this biomarker.

Get the PCSK1 report as a PDF

The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention PCSK1. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 8 at the structurally incomplete recent edge.

The yearly numbers
PCSK1 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 1 of 8,738 0.01% not measured
2025 1 of 8,875 0.01% not measured
2024 2 of 8,597 0.02% not measured
2023 3 of 8,275 0.04% 12 of 11,460 0.10%
2022 1 of 8,285 0.01% 14 of 13,598 0.10%
2021 3 of 8,692 0.03% 23 of 15,045 0.15%
2020 0 of 7,640 0.00% 14 of 14,459 0.10%
2019 1 of 7,300 0.01% 14 of 12,159 0.12%
2018 1 of 6,927 0.01% 8 of 11,854 0.07%
2017 2 of 6,558 0.03% 19 of 11,595 0.16%

Showing 10 of 37 years.

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FDA companion diagnostic assertions (1)

Shown in this order: most recent decision first.

FDA companion diagnostic assertions
Diagnostic Source biomarker wording Manufacturer Indication Decision date
POMC/PCSK1/LEPR CDx Panel PCSK1 PreventionGenetics, LLC Obesity 2022-01-21

Trial mentions (16)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT06239116 Trial eligibility (AACT)
NCT06977438 Trial eligibility (AACT)
NCT05774756 Trial eligibility (AACT)
NCT05897398 Trial eligibility (AACT)
NCT05532020 Trial eligibility (AACT)

Showing 5 of 16 trial mentions.

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Target-disease associations (347)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
Abnormal nasolacrimal system morphology phenotype GWAS credible sets
Abnormality of the skeletal system phenotype GWAS credible sets
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement endocrine system disease Mouse knockout (IMPC)
Alzheimer disease nervous system disease Literature (Europe PMC)
Alzheimer disease nervous system disease Expression Atlas

Showing 5 of 347 associations.

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Vendor sourcing (52)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. M... View ClinVar record SCV002058241.1
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.2179G>A (p.V727I) alteration is located in exon 14 (coding exon 14) of the PCSK1 gene. This alteration results from a G to A substitution at nucleotide... View ClinVar record SCV003553054.2
Charite University, Berlin, Germany Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : * Written informed consent * Homozygous or compound heterozygous (different gene mutation on both alleles) POMC, LEPR or PCSK1 gene mutation * Obesity (BM... View trial NCT02507492
Charite University, Berlin, Germany Trial sponsor Mentioned in trial textTrial free-text mention PCSK1 View trial NCT02507492
Children's Hospital of Fudan University Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted without stated criteria (ClinVar)ClinVar clinical-testing submission No supporting text recorded; see the citation. View ClinVar record SCV001478071.2

Showing 5 of 52 sourcing records.

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Trial-cited literature (168)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Key Determinants of Weight Loss Trajectory Across Different Periods of a Behavioral Weight Loss Intervention. Obesity (Silver Spring, Md.) 2026 0
Setmelanotide in patients aged 2-5 years with rare MC4R pathway-associated obesity (VENTURE): a 1 year, open-label, multicenter, phase 3 trial. The lancet. Diabetes & endocrinology 2025 37
Mepolizumab alters gene regulatory networks of nasal airway type-2 and epithelial inflammation in urban children with asthma. Nature communications 2025 6
A cross-sectional study of the role of epithelial cell injury in kidney transplant outcomes. JCI insight 2025 5
An International Inter-Consortium Validation of Knowledge-Based Plan Prediction Modeling for Whole Breast Radiotherapy Treatment. Cancers 2025 1

Showing 5 of 168 papers.

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Protein variant mentions (16)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.E345A 1 2023 PMID 36422736
p.E463K 1 2015 PMID 25741868
p.G661V 1 2015 PMID 25741868
p.I564M 1 2015 PMID 25741868
p.L713F 1 2015 PMID 25741868

Showing 5 of 16 variants.

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Human sample screening reference (1)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.R405* TCGA-GBM Gliomas; Not Reported; Brain 1 601 0.17% 0.03% to 0.94%

Literature-extracted relations (35)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Anhydrous glucose Chemical associate Common PCSK1 haplotypes are associated with obesity in the Chinese population. 2010
triglycerides (Intralipid 20%) Chemical associate Common PCSK1 haplotypes are associated with obesity in the Chinese population. 2010
Acute Kidney Injury Disease associate A cross-sectional study of the role of epithelial cell injury in kidney transplant outcomes. 2025
Inflammation Disease associate A cross-sectional study of the role of epithelial cell injury in kidney transplant outcomes. 2025
Wounds and Injuries Disease associate A cross-sectional study of the role of epithelial cell injury in kidney transplant outcomes. 2025

Showing 5 of 35 relation assertions.

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Organizations publishing (287)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Government of the United States of America Government 9 2010 to 2025
Mass General Brigham Hospital 9 2010 to 2026
University of California System Academic 9 2015 to 2022
University of London Academic 7 2009 to 2023
University of Pennsylvania Academic 6 2017 to 2022

Showing 5 of 287 organizations.

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Where PCSK1 appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • injury, poisoning or other complication
  • integumentary system disease
  • measurement
  • medical procedure
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • pregnancy or perinatal disease
  • reproductive system or breast disease
  • urinary system disease

321 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda biomarker qualification projects, assay-provider ledger, and actionable biomarkers.

Browse all biomarker evidence pages