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PRSS1

Chr 7q34

serine protease 1

MANE:
ENST00000311737.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Pancreatitis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Inherited pancreatic cancer

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • hereditary chronic pancreatitis

    0.81
  • chronic pancreatitis

    0.73
  • trypsinogen deficiency

    0.37
  • Hypocalcemic vitamin D-resistant rickets

    0.35
  • acute pancreatitis

    0.34
  • autoimmune disorder of central nervous system

    0.34
  • pancreatitis

    0.29
  • neurodegenerative disease

    0.27
  • alcoholic pancreatitis

    0.20
  • malignant pancreatic neoplasm

    0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine protease 1

Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.