PROKR1 (prokineticin receptor 1)

Gene

• Entrez ID: 10887
• Gene name: Prokineticin receptor 1
• Gene symbol: PROKR1
• Synonyms (NCBI Gene): GPR73, GPR73a, PK-R1, PKR1, ZAQ
• Chromosome: 2
• Chromosome location: 2p13.3
• Summary: This gene encodes a member of the G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflam

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144018404	T>A	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004983	Function	Neuropeptide Y receptor activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007623	Process	Circadian rhythm	IBA
GO:0016020	Component	Membrane	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IBA

Other IDs

• MIM: 607122
• HGNC: 4524
• e!Ensembl: ENSG00000169618

Protein

• UniProt ID: Q8TCW9
• Protein name: Prokineticin receptor 1 (PK-R1) (G-protein coupled receptor 73) (G-protein coupled receptor ZAQ) (GPR73a)
• Protein function: Receptor for prokineticin 1. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. Ma
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	79 → 342	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Localizes to glandular epithelium, stroma and vascular endothelial cells of first trimester decidua (at protein level). Up-regulated in first trimester decidua when compared with non-pregnant endometrium. Expressed in the stomach, thro
• Sequence:

  METTMGFMDDNATNTSTSFLSVLNPHGAHATSFPFNFSYSDYDMPLDEDEDVTNSRTFFA
  AKIVIGMALVGIMLVCGIGNFIFIAALVRYKKLRNLTNLLIANLAISDFLVAIVCCPFEM
  DYYVVRQLSWEHGHVLCTSVNYLRTVSLYVSTNALLAIAIDRYLAIVHPLRPRMKCQTAT
  GLIALVWTVSILIAIPSAYFTTETVLVIVKSQEKIFCGQIWPVDQQLYYKSYFLFIFGIE
  FVGPVVTMTLCYARISRELWFKAVPGFQTEQIRKRLRCRRKTVLVLMCILTAYVLCWAPF
  YGFTIVRDFFPTVFVKEKHYLTAFYIVECIAMSNSMINTLCFVTVKNDTVKYFKKIMLLH
  WKASYNGGKSSADLDLKTIGMPATEEVDCIRLK

• Sequence length: 393

Pathways

Reactome:

Peptide ligand-binding receptors
G alpha (q) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aganglionic megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19577713		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23135359		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	21858136, 22648184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	21858136	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	22941044	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16763065		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23135359		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26475302		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	31744994		★☆☆☆☆ Found in Text Mining only