Skip to content
Use your HSA or FSA funds

Gene

PCSK1

proprotein convertase subtilisin/kexin type 1

Summary

Cytogenetic location
5q15
Coordinates
Chromosome 5: 96,390,333–96,433,248 (GRCh38)
Exons
14 exons across 42.9 kb
Protein
753 amino acids
Also known as
PC1, PC3, SPC3, PC1/3
Previous symbols
NEC1
MANE Select transcript
ENST00000311106.8NM_000439.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 4 GenCC submitters rate it definitive or strong

  • Monogenic Obesity (Leptin-Melanocortin Pathway)

    • Inherited obesity (leptin-melanocortin pathway)

      Early-onset severe obesity caused by single-gene defects in appetite regulation, including MC4R, SIM1 (dominant), and LEP, LEPR, POMC and PCSK1 (recessive) deficiencies.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Targeted medicines are available for some forms: metreleptin for leptin deficiency, and setmelanotide for POMC, PCSK1 and LEPR deficiency.

How PCSK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where PCSK1 sits. PCSK1 and 4 genes near it on chromosome 5, from 95,911,791 to 96,911,790.Chromosome 55q15p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.396 Mb96.2 Mb96.4 Mb96.6 Mb96.8 MbELL2: 95,885,095–95,961,907, reverse strandELL2CAST: 96,247,756–96,779,595, forward strandCASTPCSK1: 96,390,333–96,433,248, reverse strandPCSK1ERAP1: 96,759,649–96,808,177, reverse strandERAP1ERAP2: 96,875,979–96,919,703, forward strandERAP2Diagram of PCSK1: 14 exons on the reverse strand of chromosome 5Exon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 4 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 14: 96,390,333–96,393,378, 3,046 basesExon 13: 96,394,864–96,395,025, 162 basesExon 12: 96,397,336–96,397,469, 134 basesExon 11: 96,398,879–96,399,036, 158 basesExon 10: 96,399,953–96,400,186, 234 basesExon 9: 96,408,223–96,408,323, 101 basesExon 8: 96,410,774–96,410,986, 213 basesExon 7: 96,412,318–96,412,490, 173 basesExon 6: 96,416,033–96,416,121, 89 basesExon 5: 96,421,880–96,421,956, 77 basesExon 4: 96,423,313–96,423,459, 147 basesExon 3: 96,425,820–96,425,930, 111 basesExon 2: 96,429,213–96,429,317, 105 basesExon 1: 96,432,863–96,433,248, 386 bases14131211109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.1 kb of the gene's 42.9 kb; 2,262 of those bases code for the protein.

How a genome test reads PCSK1

14

positions in PCSK1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 42.9 kb of PCSK1, introns included, not only the 5.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PCSK1 gene: proprotein convertase subtilisin/kexin type 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pcsk1

Vancouver

Dante Labs. PCSK1 gene: proprotein convertase subtilisin/kexin type 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pcsk1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test