GENE REFERENCE / HGNC:9008

PKD1

polycystin 1, transient receptor potential channel interacting

protein-coding gene16p13.3Gene information

What does this gene do?

The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys. Although its exact function is not well understood, polycystin-1 appears to interact with a smaller, somewhat similar protein called polycystin-2.

Polycystin-1 spans the cell membrane of kidney cells, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning of the protein allows it to interact with other proteins, carbohydrates, and fat molecules (lipids) outside the cell and to receive signals that help the cell respond to its environment. When a molecule binds to polycystin-1 on the surface of the cell, the protein interacts with polycystin-2 to trigger a cascade of chemical reactions inside the cell. These chemical reactions instruct the cell to undergo certain changes, such as maturing to take on specialized functions. Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells.

Polycystin-1 is also found in cell structures called primary cilia. Primary cilia are tiny, fingerlike projections that line the small tubes where urine is formed (renal tubules). Researchers believe that primary cilia sense the movement of fluid through these tubules, which appears to help maintain the tubules' size and structure. The interaction of polycystin-1 and polycystin-2 in renal tubules promotes the normal development and function of the kidneys.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2006-06.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
autosomal dominant polycystic kidney diseaseMONDO:0004691 · Evaluated 2021-02-26	Autosomal dominant	DefinitiveKidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
autosomal recessive polycystic kidney diseaseMONDO:0009889 · Evaluated 2023-01-11	Autosomal recessive	DefinitiveKidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 7,963
Submissions for variants in or overlapping this gene: 15,383
Submissions explicitly reporting this gene: 14,599
Alleles reported pathogenic / likely pathogenic: 2,624
VariationIDs with uncertain significance: 3,480
VariationIDs with conflicting classifications: 531

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PKD1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 2,624 alleles in PKD1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PKD1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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