PKD1 polycystin 1, transient receptor potential channel interacting
Also known as: Lov-1, PBP, Pc-1, PC1, PKD1_HUMAN, polycystic kidney disease 1 (autosomal dominant), polycystin-1, TRPP1.
Approximate pronunciation (generated from the name, not a recording):
- PKD1 pee-kay-dee-one
- polycystin 1, transient receptor potential channel interacting polycystin one transient receptor potential channel interacting
What this gene does
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 Genetics (reviewed 2006-06; source updated 2020-08-18).
Autosomal dominant polycystic kidney disease
Approximate pronunciation (generated from the name, not a recording):
- Autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease
Also known as: PKD, Polycystic renal disease.
The reviewed source page covers polycystic kidney disease generally, including the autosomal dominant form (ADPKD).
What is Autosomal dominant polycystic kidney disease?
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.
The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.
Source: MedlinePlus Genetics (reviewed 2006-06; source updated 2024-12-16).
How it is inherited
Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from a new mutation in one of the genes and occur in people with no history of the disorder in their family.
Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other genes that have not been identified.
Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Source: MedlinePlus Genetics (reviewed 2006-06; source updated 2024-12-16).
How common it is
MedlinePlus Genetics Frequency
Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people.
Source: MedlinePlus Genetics (reviewed 2006-06; source updated 2024-12-16).
Research studies
39 studies recruiting people with Autosomal dominant polycystic kidney disease. Showing the first 5 of 39.
- ANCHOR Study: A Study to Assess the Safety and Efficacy of ABBV-CLS-628 in Adult Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (NCT06902558)
- Polycystic Kidney Disease Data Repository (NCT00792155)
- Bempedoic Acid Therapy for Polycystic Kidney Disease (NCT07282821)
- A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease (NCT05478083)
- Somatosensory Phenotyping of ADPKD (NCT06970028)
See all recruiting studies on ClinicalTrials.gov.
Source: ClinicalTrials.gov (retrieved 2026-10-04).
Family and care
What a diagnosis can mean for a family, and what to ask. This guidance is general, not specific to one gene.
What is a genetic consultation?
A genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic conditions. During a consultation, a genetics professional meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition.
Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (certified healthcare workers with experience in medical genetics and counseling). Other healthcare professionals such as nurses, psychologists, and social workers trained in genetics can also provide genetic consultations.
Consultations usually take place in a doctor’s office, hospital, genetics center, or other type of medical center. These meetings are most often in-person visits with individuals or families, but they are occasionally conducted in a group. Additionally, genetic consultations may be carried out using telemedicine (also known as telehealth), in which the meeting is done from a distance using computers, cameras, videoconferencing tools, or the telephone.
Source: MedlinePlus Genetics.
Why might someone have a genetic consultation?
Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include:
A personal or family history of a genetic condition, birth defect, chromosomal disorder, or hereditary cancer.
Two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died.
A child with a known inherited disorder, a birth defect, intellectual disability, or developmental delay.
A woman who is pregnant or plans to become pregnant at or after age 35. (Some chromosomal disorders occur more frequently in children born to older women.)
Abnormal test results that suggest a genetic or chromosomal condition.
An increased risk of developing or passing on a particular genetic disorder on the basis of a person’s ethnic background.
People related by blood (for example, cousins) who plan to have children together. (A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.)
A person received results from direct-to-consumer genetic testing and they want to discuss the implications of the results.
A genetic consultation is also an important part of the decision-making process for genetic testing. A visit with a genetics professional may be helpful even if testing is not available for a specific condition, however.
Source: MedlinePlus Genetics.
What happens during a genetic consultation?
A genetic consultation provides information, offers support, and addresses a patient’s specific questions and concerns. To help determine whether a condition has a genetic component, a genetics professional asks about a person’s medical history and takes a detailed family health history (a record of health information about a person's immediate and extended family). The genetics professional may also perform a physical examination and recommend appropriate medical tests.
If a person is diagnosed with a genetic condition, the genetics professional provides information about the diagnosis, how the condition is inherited, the chance of passing the condition to future generations, and the options for testing and treatment.
During a consultation, a genetics professional will:
Interpret and communicate complex medical information.
Help each person make informed, independent decisions about their health care and reproductive options.
Respect each person’s individual beliefs, traditions, and feelings.
A genetics professional will NOT:
Tell a person which decision to make.
Coerce a couple about whether or not to have children.
Recommend that a woman continue or end a pregnancy.
Tell someone whether to undergo testing for a genetic disorder.
Source: MedlinePlus Genetics.
What is genetic counseling?
The goal of genetic counseling is to help you learn more about the causes of genetic conditions and how they affect you.
Genetic counselors can: Review your family and medical histories; Explain how genetic conditions are passed down through families; Figure out if you or your family members are at risk for disease; Find and give you information about genetic conditions; Offer guidance to help you make informed choices or life plans; Provide information about testing options and help you decide what is best for you and your family; Help you find referrals to medical specialists, advocacy and support networks, and other resources.
Source: National Society of Genetic Counselors and Genetic Alliance (CC BY; published 2008).
Where to go next
- Autosomal dominant polycystic kidney disease: PKD Foundation — The patient advocacy organization for Autosomal dominant polycystic kidney disease.
- Find a Genetic Counselor (NSGC) — Find a genetic counselor near you.
- Search ClinicalTrials.gov for Autosomal dominant polycystic kidney disease — Look for studies that are recruiting people with Autosomal dominant polycystic kidney disease.
Words you may meet
Some technical words appear in the sections above and in the details below. Here is what they mean, in words from a public genetics glossary.
- Gene
- The gene is considered the basic unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify physical and biological traits. Most genes code for specific proteins, or segments of proteins, which have differing functions within the body. Humans have approximately 20,000 protein-coding genes. NHGRI Talking Glossary of Genomic and Genetic Terms
- Chromosome
- Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. In plants and animals (including humans), chromosomes reside in the nucleus of cells. Humans have 22 pairs of numbered chromosomes (autosomes) and one pair of sex chromosomes (XX or XY), for a total of 46. Each pair contains two chromosomes, one coming from each parent, which means that children inherit half of their chromosomes from their mother and half from their father. Chromosomes can be seen through a microscope when the nucleus dissolves during cell division. NHGRI Talking Glossary of Genomic and Genetic Terms
- Autosomal Recessive Disorder
- Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Recessive” means that two copies of the mutated gene (one from each parent) are required to cause the disorder. In a family where both parents are carriers and do not have the disease, roughly a quarter of their children will inherit two disease-causing alleles and have the disease. By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. Sickle cell anemia is an example of an autosomal recessive genetic disorder. NHGRI Talking Glossary of Genomic and Genetic Terms
- Autosomal Dominant Disorder
- Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. A child of a person affected by an autosomal dominant condition has a 50% chance of being affected by that condition via inheritance of a dominant allele. By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic disorder. NHGRI Talking Glossary of Genomic and Genetic Terms
- Mitochondrial DNA
- Mitochondrial DNA is the circular chromosome found inside the cellular organelles called mitochondria. Located in the cytoplasm, mitochondria are the site of the cell’s energy production and other metabolic functions. Offspring inherit mitochondria — and as a result mitochondrial DNA — from their mother. NHGRI Talking Glossary of Genomic and Genetic Terms
- Genetic Imprinting
- Genomic imprinting is the process by which only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed. Unlike genomic mutations that can affect the ability of inherited genes to be expressed, genomic imprinting does not affect the DNA sequence itself. Instead, gene expression is silenced by the epigenetic addition of chemical tags to the DNA during egg or sperm formation. Epigenetic tags on imprinted genes usually stay in place for the life of the individual. NHGRI Talking Glossary of Genomic and Genetic Terms
- Protein
- Proteins are large, complex molecules that play many important roles in the body. They are critical to most of the work done by cells and are required for the structure, function and regulation of the body’s tissues and organs. A protein is made up of one or more long, folded chains of amino acids (each called a polypeptide), whose sequences are determined by the DNA sequence of the protein-encoding gene. NHGRI Talking Glossary of Genomic and Genetic Terms
- Mutation
- A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to mutagens or a viral infection. Germline mutations (that occur in eggs and sperm) can be passed on to offspring, while somatic mutations (that occur in body cells) are not passed on. NHGRI Talking Glossary of Genomic and Genetic Terms
- Pathogenic Variant
- A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic variant does not guarantee that a person will develop the specific condition but increases the risk for it. Pathogenic variants can be inherited from a parent or can occur spontaneously due to factors such as environmental exposure and aging. NHGRI Talking Glossary of Genomic and Genetic Terms
- Genetic Testing
- Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to confirm or rule out a suspected genetic disease. Results may also be used to determine the likelihood of parents passing on a genetic mutation to their offspring. Genetic testing may be performed prenatally or after birth. Genetic testing is also used to study the genomes of tumors in cancer cases. NHGRI Talking Glossary of Genomic and Genetic Terms
- Carrier
- A carrier, as related to genetics, is an individual who “carries” and can pass on to its offspring a genomic variant (allele) associated with a disease (or trait) that is inherited in an autosomal recessive or sex-linked manner, and who does not show symptoms of that disease (or features of that trait). The carrier has inherited the variant allele from one parent and a normal allele from the other parent. Any offspring of carriers is at risk of inheriting a variant allele from their parents, which would result in that child having the disease (or trait). NHGRI Talking Glossary of Genomic and Genetic Terms
- Allele
- An allele is one of two or more versions of DNA sequence (a single base or a segment of bases) at a given genomic location. An individual inherits two alleles, one from each parent, for any given genomic location where such variation exists. If the two alleles are the same, the individual is homozygous for that allele. If the alleles are different, the individual is heterozygous. NHGRI Talking Glossary of Genomic and Genetic Terms
- Mendelian Inheritance
- Mendelian inheritance refers to certain patterns of how traits are passed from parents to offspring. These general patterns were established by the Austrian monk Gregor Mendel, who performed thousands of experiments with pea plants in the 19th century. Mendel’s discoveries of how traits (such as color and shape) are passed down from one generation to the next introduced the concept of dominant and recessive modes of inheritance. NHGRI Talking Glossary of Genomic and Genetic Terms
Details you may see on a test report
These names and numbers are the technical ones doctors and labs use. You do not need to memorize them.
Location
This is where the gene sits on its chromosome, so you can match it to coordinates on a test report.
16p13.3 · GRCh38 chr16:2,088,708–2,135,898
Open in Ensembl (primary) or UCSC Genome Browser (secondary).
Source: HGNC (HGNC:9008).
Recommended transcript
This is the reference transcript labs use when they report a change in this gene.
- MANE Select
NM_001009944.3(RefSeq) /ENST00000262304.9(Ensembl)
Source: NCBI MANE.
Protein domains
These are the working parts of the protein, with the amino-acid positions each one covers.
- Leucine-rich repeat N-terminal domain — amino acids 32–71
- Cysteine-rich flanking region, C-terminal — amino acids 125–177
- PKD domain — amino acids 274–359, 950–1020, 1021–1129, 1127–1215, 1214–1293, 1303–1383, 1383–1469, 1472–1551, 1550–1635, 1634–1713, 1719–1805, 1805–1890, 1889–1967, 1973–2057, 2068–2148
- PLAT/LH2 domain — amino acids 3118–3233
- C-type lectin-like — amino acids 406–531
- PKD/REJ-like domain — amino acids 2171–2614
- Carbohydrate-binding WSC — amino acids 177–271
- Polycystin cation channel — amino acids 97–2728
- Polycystin cation channel, PKD1/PKD2 — amino acids 3895–4112
- REJ domain — amino acids 2146–2833
- PKD/Chitinase domain — amino acids 272–355, 936–1014, 1021–1125, 1128–1211, 1216–1294, 1296–1379, 1380–1465, 1468–1547, 1550–1631, 1641–1717, 1722–1801, 1802–1886, 1888–1970, 1972–2060, 2061–2144
- Polycystin-1 like, PLAT/LH2 domain — amino acids 3118–3237
- Polycystin domain — amino acids 3714–3890
- GAIN, subdomain B — amino acids 2862–3063
Protein structure
This lets you look at the protein's 3D shape if you want to.
View the predicted structure in AlphaFold, or search the PDB for solved structures.
Source: UniProt (P98161).
Reported gene variants
ClinVar collects gene variants people have reported; it is a place to search, not a list on this page.
This page does not list individual variants. Search ClinVar for PKD1 instead.
Source: ClinVar.
What this page is not
This page is for education only. It is not medical advice, and it is not a diagnosis or a treatment plan. Talk with a doctor or a genetic counselor about your family's situation.