PROK1

prokineticin 1, the group of Receptor ligands

Basic information

Region (hg38): 1:110451149-110457358

Links

ENSG00000143125 ∙ NCBI:84432 ∙ OMIM:606233 ∙ HGNC:18454 ∙ Uniprot:P58294 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PROK1 gene.

• not_specified (14 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROK1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032414.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			14			14
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	14	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PROK1	protein_coding	protein_coding	ENST00000271331	3	6155

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000617	0.154	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.186	71	66.7	1.06	0.00000436	672
Missense in Polyphen		25	27.271	0.91673		274
Synonymous	0.530	24	27.5	0.872	0.00000174	213
Loss of Function	-0.667	7	5.34	1.31	3.79e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000506	0.000506
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000114	0.000114
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: 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. {ECO:0000269|PubMed:11259612, ECO:0000269|PubMed:11528470, ECO:0000269|PubMed:15292351, ECO:0000269|PubMed:17289879, ECO:0000269|PubMed:18339712}.
• Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.496
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.58

Haploinsufficiency Scores

• pHI: 0.195
• hipred: N
• hipred_score: 0.278

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Prok1

Gene ontology

• Biological process: activation of MAPK activity;angiogenesis;G protein-coupled receptor signaling pathway;circadian rhythm;positive regulation of cell population proliferation;regulation of signaling receptor activity;regulation of angiogenesis;positive regulation of cell division
• Cellular component: extracellular region
• Molecular function: G protein-coupled receptor binding;growth factor activity