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| # | Reference Title | Reference Citation |
| 1. | Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. | Furu L, etal., J Am Soc Nephrol. 2003 Aug;14(8):2004-14. |
| 2. | Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. | Gallagher AR, etal., Am J Pathol. 2008 Feb;172(2):417-29. doi: 10.2353/ajpath.2008.070381. Epub 2008 Jan 17. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. | Goilav B, etal., Pediatr Transplant. 2006 May;10(3):294-8. |
| 5. | Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. | Hiesberger T, etal., J Clin Invest. 2004 Mar;113(6):814-25. |
| 6. | A Novel Pkhd1 Mutation Interacts with the Nonobese Diabetic Genetic Background To Cause Autoimmune Cholangitis. | Huang W, etal., J Immunol. 2018 Jan 1;200(1):147-162. doi: 10.4049/jimmunol.1701087. Epub 2017 Nov 20. |
| 7. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 8. | A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). | Moser M, etal., Hepatology. 2005 May;41(5):1113-21. doi: 10.1002/hep.20655. |
| 9. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 10. | GOA pipeline | RGD automated data pipeline |
| 11. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 13. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 14. | Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. | Shan D, etal., Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472. doi: 10.1152/ajprenal.00181.2018. Epub 2019 Jan 2. |
| 15. | Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. | Ward CJ, etal., Hum Mol Genet. 2003 Oct 15;12(20):2703-10. Epub 2003 Aug 12. |
| 16. | The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. | Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69. |
| 17. | A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. | Woollard JR, etal., Kidney Int. 2007 Aug;72(3):328-36. doi: 10.1038/sj.ki.5002294. Epub 2007 May 23. |
| 18. | Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. | Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295. |
| 19. | PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. | Zhang MZ, etal., Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2311-6. |
| PMID:14978161 | PMID:15458427 | PMID:15509540 | PMID:16243292 | PMID:16783394 | PMID:17669261 | PMID:18235088 | PMID:19056867 | PMID:19158352 | PMID:19524688 | PMID:19943112 | PMID:20554582 |
| PMID:20709014 | PMID:21300060 | PMID:25367197 | PMID:26136112 | PMID:28154160 |
| Pkhd1 (Rattus norvegicus - Norway rat) |
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| PKHD1 (Homo sapiens - human) |
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| Pkhd1 (Mus musculus - house mouse) |
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| Pkhd1 (Chinchilla lanigera - long-tailed chinchilla) |
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| PKHD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PKHD1 (Canis lupus familiaris - dog) |
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| Pkhd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PKHD1 (Sus scrofa - pig) |
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| PKHD1 (Chlorocebus sabaeus - green monkey) |
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| Pkhd1 (Heterocephalus glaber - naked mole-rat) |
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| Pkhd1 (Rattus rattus - black rat) |
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Variants in Pkhd1
4997 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D9Got30 |
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| AU028005 |
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| AU049041 |
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alimentary part of gastrointestinal system
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circulatory system
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ectoderm
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hemolymphoid system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|
| 7 | 9 | 13 | 2 | 54 | 11 | 18 | 36 | 31 | 9 | 9 |
| RefSeq Transcripts | XM_001070557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008757980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008757981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008757985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008766937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | JAXUCZ010000009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000080948 ⟹ ENSRNOP00000072399 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_008766937 ⟹ XP_008765159 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | XP_008765159 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000072399 | ||
| ENSRNOP00000072399.2 |
| RefSeq Acc Id: | XP_008765159 ⟸ XM_008766937 |
| - UniProtKB: | A0A0G2K2W1 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000072399 ⟸ ENSRNOT00000080948 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A0G2K2W1-F1-model_v2 | AlphaFold | A0A0G2K2W1 | 1-1613 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1308476 | AgrOrtholog |
| BioCyc Gene | G2FUF-28044 | BioCyc |
| Ensembl Genes | ENSRNOG00000058742 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000080948 | ENTREZGENE |
| ENSRNOT00000080948.3 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.160.20.10 | UniProtKB/TrEMBL |
| 2.60.40.10 | UniProtKB/TrEMBL | |
| InterPro | Beta_helix | UniProtKB/TrEMBL |
| CEMIP_beta-hel_dom | UniProtKB/TrEMBL | |
| Fibrocystin-related | UniProtKB/TrEMBL | |
| G8_domain | UniProtKB/TrEMBL | |
| Ig-like_fold | UniProtKB/TrEMBL | |
| Ig_E-set | UniProtKB/TrEMBL | |
| IPT_dom | UniProtKB/TrEMBL | |
| PA14/GLEYA | UniProtKB/TrEMBL | |
| PbH1 | UniProtKB/TrEMBL | |
| Pectin_lyas_fold | UniProtKB/TrEMBL | |
| Pectin_lyase_fold/virulence | UniProtKB/TrEMBL | |
| NCBI Gene | 301287 | ENTREZGENE |
| PANTHER | POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 (AUTOSOMAL RECESSIVE)-LIKE 1 | UniProtKB/TrEMBL |
| PTHR46769:SF1 | UniProtKB/TrEMBL | |
| Pfam | Beta_helix | UniProtKB/TrEMBL |
| CEMIP_beta-hel | UniProtKB/TrEMBL | |
| PF10162 | UniProtKB/TrEMBL | |
| TIG | UniProtKB/TrEMBL | |
| PhenoGen | Pkhd1 | PhenoGen |
| PROSITE | PA14 | UniProtKB/TrEMBL |
| PS51484 | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000058742 | RatGTEx |
| SMART | IPT | UniProtKB/TrEMBL |
| PbH1 | UniProtKB/TrEMBL | |
| SM01225 | UniProtKB/TrEMBL | |
| Superfamily-SCOP | Anthrax protective antigen | UniProtKB/TrEMBL |
| SSF51126 | UniProtKB/TrEMBL | |
| SSF81296 | UniProtKB/TrEMBL | |
| UniProt | A0A0G2K2W1 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2022-06-02 | Pkhd1 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | AABR07067023.1 | Data merged from RGD:15012019 | 737654 | PROVISIONAL | |
| 2021-09-02 | AABR07067023.1 | Pkhd1 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Symbol and/or name change | 19259462 | PROVISIONAL | |
| 2021-08-09 | Pkhd1 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | AABR07067023.1 | Symbol and/or name change | 19259462 | PROVISIONAL | |
| 2019-11-08 | AABR07067023.1 | Symbol and Name status set to provisional | 45752 | PROVISIONAL | |||
| 2012-06-26 | Pkhd1 | polycystic kidney and hepatic disease 1 | Pkhd1 | polycystic kidney and hepatic disease 1 homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2011-04-29 | Pkhd1 | polycystic kidney and hepatic disease 1 homolog (human) | Pkhd1 | polycystic kidney and hepatic disease 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-07 | Pkhd1 | polycystic kidney and hepatic disease 1 | Pkhd1_predicted | polycystic kidney and hepatic disease 1 (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-01-12 | Pkhd1_predicted | polycystic kidney and hepatic disease 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |