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PROK1

Chr 1p13.3

prokineticin 1

Aliases:
PK1, PRK1, EGVEGF, EG-VEGF
MANE:
ENST00000271331.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Paediatric pseudo-obstruction syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Non-syndromic familial congenital anorectal malformations

Disease associations (Open Targets)

  • Hirschsprung disease

    0.37
  • Hypercholesterolemia

    0.28
  • colorectal cancer

    0.10
  • neoplasm

    0.09
  • cancer

    0.08
  • posterior cortical atrophy

    0.08
  • infection

    0.08
  • metabolic syndrome

    0.07
  • polycystic ovary syndrome

    0.06
  • intestinal impaction

    0.06

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

Protein function (UniProt)

Prokineticin-1

Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. May play a role in placentation. May play a role in normal and pathological testis angiogenesis

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.