Gene · 5314
PKHD1: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
12 sourcesgene-search-2026-11-11-0.2.0
Cite this record
ConductScience Library. PKHD1: PKHD1 ciliary IPT domain containing fibrocystin/polyductin. Genes, record 5314. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/5314
On this page
Gene
Proteins1
Reviewed human proteins whose Swiss-Prot entry states the gene.
| UniProt entry | Protein | Length | Structures | Gene stated in |
|---|---|---|---|---|
| P08F94 | Fibrocystin | 4,074 | 0 | Ensembl, GeneID, HGNC |
Source UniProt
Patents33
Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.
| Publication | Published | SEQ ID NO | Protein | Source |
|---|---|---|---|---|
| JP 2026004568 A | 2026-01-14 | 58393 | P08F94 | Espacenet |
| EP 4650780 A2 | 2025-11-19 | 8899 | P08F94 | Espacenet |
| EP 4640849 A2 | 2025-10-29 | 1338 | P08F94 | Espacenet |
| EP 4641201 A2 | 2025-10-29 | 9128 | P08F94 | Espacenet |
| JP 2025147176 A | 2025-10-06 | 10441 | P08F94 | Espacenet |
| JP 2025529142 A | 2025-09-04 | 3502 | P08F94 | Espacenet |
| JP 2025529142 A | 2025-09-04 | 7356 | P08F94 | Espacenet |
| US 12371689 B2 | 2025-07-29 | 3502 | P08F94 | Espacenet |
| US 12371689 B2 | 2025-07-29 | 7356 | P08F94 | Espacenet |
| JP 2025519096 A | 2025-06-24 | 1338 | P08F94 | Espacenet |
1 to 10 of 33
See all 33 patentsDrugs0
Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.
None in this release.
Trials0
Trials of those drugs. A trial joins the gene only through a drug that acts on it.
None in this release.
NIH grants865
NIH grants whose papers are about the gene, through NIH's grant-paper links.
| Grant | Title | PKHD1 papers | Newest fiscal year |
|---|---|---|---|
| R01DK058816 | ADPKD: Disease Spectrum & Genotype-Phenotype Correlations | 17 | 2025 |
| P30DK084567 | Mayo Center for Cell Signaling in Gastroenterology | 15 | 2025 |
| R01DK059597 | Investigation of common disease mechanisms in nonsyndromic and syndromic PKD | 12 | 2025 |
| UL1TR001863 | Yale Clinical and Translational Science Award | 10 | 2025 |
| R01GM060992 | Intraflagellar Transport Proteins in Mice | 9 | 2025 |
| ZIAHG000215 | Human Biochemical Genetics | 8 | 2025 |
| ZIADK075008 | Investigation of non-cirrhotic portal hypertension. | 7 | 2025 |
| P30DK034989 | Yale Liver Center | 6 | 2025 |
| R01DK042921 | Regulation of Kidney-Specific Gene Expression | 6 | 2025 |
| ZIADK075042 | The role of PKD proteins in regulating tubular morphology | 5 | 2025 |
1 to 10 of 865Source NIH's project files
See all 865 nih grantsPapers1,363
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family. | Case Rep Obstet Gynecol | 2026 | 42732372 | PubTator, text mining | PubMed |
| The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease. | Am J Med Genet A | 2026 | 42702893 | PubTator, text mining | PubMed |
| Structural and diagnostic implications of exonic splice-disrupting variants in PKHD1-related Caroli disease. | Gene | 2026 | 42697289 | PubTator, text mining | PubMed |
| Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance. | Diagnostics (Basel) | 2026 | 42587573 | PubTator, text mining | PubMed |
| Enhancer collapse dictates PKHD1 silencing and centrosome-mediated chromosomal instability and metastasis in clear cell renal cell carcinoma. | Exp Cell Res | 2026 | 42586231 | PubTator, text mining | PubMed |
| A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease. | Gene | 2026 | 42551719 | PubTator, text mining | PubMed |
| Targeted genomic DNA sequencing (506-gene panel) and whole-exome sequencing analysis of EBV-positive inflammatory follicular dendritic cell sarcoma. | BMC Cancer | 2026 | 42374265 | PubTator, text mining | PubMed |
| Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation. | Dig Dis Sci | 2026 | 42365546 | PubTator, text mining | PubMed |
| Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children. | Children (Basel) | 2026 | 42353922 | PubTator, text mining | PubMed |
| Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience. | Pediatr Nephrol | 2026 | 42313208 | PubTator, text mining | PubMed |
1 to 10 of 1,363
See all 1,363 papersSources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this gene from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/genes/v1/5314
GET https://conductscience.org/api/genes/v1/5314/patents?page=2