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Gene · 5314

PKHD1: PKHD1 ciliary IPT domain containing fibrocystin/polyductin

12 sourcesgene-search-2026-11-11-0.2.0

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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

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Gene

Symbol
PKHD1
HGNC
Name
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
HGNC
NCBI Gene ID
5314
NCBI Gene
HGNC ID
HGNC:9016
HGNC
Ensembl
ENSG00000170927
NCBI Gene
Aliases
ARPKD, FCYT, FPC, PCYT, PKD4, TIGM1
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
P08F94Fibrocystin4,0740Ensembl, GeneID, HGNC

Source UniProt

Patents33

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026004568 A2026-01-1458393P08F94Espacenet
EP 4650780 A22025-11-198899P08F94Espacenet
EP 4640849 A22025-10-291338P08F94Espacenet
EP 4641201 A22025-10-299128P08F94Espacenet
JP 2025147176 A2025-10-0610441P08F94Espacenet
JP 2025529142 A2025-09-043502P08F94Espacenet
JP 2025529142 A2025-09-047356P08F94Espacenet
US 12371689 B22025-07-293502P08F94Espacenet
US 12371689 B22025-07-297356P08F94Espacenet
JP 2025519096 A2025-06-241338P08F94Espacenet

1 to 10 of 33

See all 33 patents

Drugs0

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.

GrantTitlePKHD1 papersNewest fiscal year
R01DK058816ADPKD: Disease Spectrum & Genotype-Phenotype Correlations172025
P30DK084567Mayo Center for Cell Signaling in Gastroenterology152025
R01DK059597Investigation of common disease mechanisms in nonsyndromic and syndromic PKD122025
UL1TR001863Yale Clinical and Translational Science Award102025
R01GM060992Intraflagellar Transport Proteins in Mice92025
ZIAHG000215Human Biochemical Genetics82025
ZIADK075008Investigation of non-cirrhotic portal hypertension.72025
P30DK034989Yale Liver Center62025
R01DK042921Regulation of Kidney-Specific Gene Expression62025
ZIADK075042The role of PKD proteins in regulating tubular morphology52025

1 to 10 of 865Source NIH's project files

See all 865 nih grants

Papers1,363

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family.Case Rep Obstet Gynecol202642732372PubTator, text miningPubMed
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 A202642702893PubTator, text miningPubMed
Structural and diagnostic implications of exonic splice-disrupting variants in PKHD1-related Caroli disease.Gene202642697289PubTator, text miningPubMed
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)202642587573PubTator, text miningPubMed
Enhancer collapse dictates PKHD1 silencing and centrosome-mediated chromosomal instability and metastasis in clear cell renal cell carcinoma.Exp Cell Res202642586231PubTator, text miningPubMed
A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease.Gene202642551719PubTator, text miningPubMed
Targeted genomic DNA sequencing (506-gene panel) and whole-exome sequencing analysis of EBV-positive inflammatory follicular dendritic cell sarcoma.BMC Cancer202642374265PubTator, text miningPubMed
Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation.Dig Dis Sci202642365546PubTator, text miningPubMed
Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel)202642353922PubTator, text miningPubMed
Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience.Pediatr Nephrol202642313208PubTator, text miningPubMed

1 to 10 of 1,363

See all 1,363 papers

Sources 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.

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