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# | Reference Title | Reference Citation |
1. | A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. | Fedeles SV, etal., Nat Genet. 2011 Jun 19;43(7):639-47. doi: 10.1038/ng.860. |
2. | 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. |
3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
4. | Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). | Hoefele J, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. Epub 2010 Nov 29. |
5. | Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. | Hopp K, etal., J Clin Invest. 2012 Nov 1;122(11):4257-73. doi: 10.1172/JCI64313. Epub 2012 Oct 15. |
6. | Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene. | Kleymenova E, etal., Mol Cell 2001 Apr;7(4):823-32. |
7. | Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. | Lu W, etal., Nat Genet. 1999 Feb;21(2):160-1. doi: 10.1038/5944. |
8. | Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling. | Masyuk AI, etal., Gastroenterology. 2006 Sep;131(3):911-20. |
9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
10. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
11. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
12. | Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. | Peral B, etal., Am J Hum Genet. 1996 Jan;58(1):86-96. |
13. | GOA pipeline | RGD automated data pipeline |
14. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
15. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
16. | Comprehensive gene review and curation | RGD comprehensive gene curation |
17. | Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. | Rossetti S, etal., Lancet. 2003 Jun 28;361(9376):2196-201. |
18. | Tissue-specific expression and splicing of the rat polycystic kidney disease 1 gene. | Xu H, etal., DNA Seq 2001 Dec;12(5-6):361-6. |
PMID:9171830 | PMID:9192675 | PMID:10677526 | PMID:10770959 | PMID:11593033 | PMID:11891195 | PMID:11901144 | PMID:12007403 | PMID:12482949 | PMID:12514735 | PMID:15326289 | PMID:15545994 |
PMID:15548533 | PMID:15632090 | PMID:15858826 | PMID:16282979 | PMID:16311606 | PMID:17980165 | PMID:18285569 | PMID:19056867 | PMID:19135240 | PMID:19158352 | PMID:19897428 | PMID:20181743 |
PMID:20862291 | PMID:21518438 | PMID:23001567 | PMID:24039875 | PMID:24740233 | PMID:24767999 | PMID:24939912 | PMID:25367197 | PMID:25405894 | PMID:25807483 | PMID:25888683 | PMID:25889640 |
PMID:26739494 | PMID:27214281 | PMID:28154160 | PMID:28408623 | PMID:29126879 | PMID:29133434 | PMID:29949809 | PMID:30093605 | PMID:33065236 | PMID:34407229 |
Pkd1 (Rattus norvegicus - Norway rat) |
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PKD1 (Homo sapiens - human) |
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Pkd1 (Mus musculus - house mouse) |
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Pkd1 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100972297 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PKD1 (Canis lupus familiaris - dog) |
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Pkd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PKD1 (Sus scrofa - pig) |
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PKD1 (Chlorocebus sabaeus - green monkey) |
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Pkd1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Pkd1
77 total Variants ![]() |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH143904 |
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RH94522 |
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RH138827 |
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Pkd1 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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16 | 12 | 67 | 162 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 141 | 81 | 92 | 31 | 17 | 17 |
RefSeq Transcripts | NM_001414013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008767539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039085207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063268414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063268415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063268416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC093937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF277452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D85767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000015092 ⟹ ENSRNOP00000015092 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000116450 ⟹ ENSRNOP00000089569 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001414013 ⟹ NP_001400942 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_008767539 ⟹ XP_008765761 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008767540 ⟹ XP_008765762 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008767541 ⟹ XP_008765763 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039085207 ⟹ XP_038941135 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063268414 ⟹ XP_063124484 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063268415 ⟹ XP_063124485 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063268416 ⟹ XP_063124486 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001400942 | (Get FASTA) | NCBI Sequence Viewer |
XP_008765761 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008765762 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008765763 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038941135 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063124484 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063124485 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063124486 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAG33986 | (Get FASTA) | NCBI Sequence Viewer |
EDM03845 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000015092 | ||
ENSRNOP00000015092.7 | |||
ENSRNOP00000089569 | |||
ENSRNOP00000089569.1 |
RefSeq Acc Id: | XP_008765761 ⟸ XM_008767539 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9ERV0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008765762 ⟸ XM_008767540 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I6AC84 (UniProtKB/TrEMBL), Q9ERV0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008765763 ⟸ XM_008767541 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A6HCU0 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000015092 ⟸ ENSRNOT00000015092 |
RefSeq Acc Id: | XP_038941135 ⟸ XM_039085207 |
- Peptide Label: | isoform X7 |
Ensembl Acc Id: | ENSRNOP00000089569 ⟸ ENSRNOT00000116450 |
RefSeq Acc Id: | NP_001400942 ⟸ NM_001414013 |
- Peptide Label: | precursor |
- UniProtKB: | F1MAD3 (UniProtKB/TrEMBL), Q9ERV0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063124484 ⟸ XM_063268414 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1MAD3 (UniProtKB/TrEMBL), Q9ERV0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063124485 ⟸ XM_063268415 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q9ERV0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063124486 ⟸ XM_063268416 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q9ERV0 (UniProtKB/TrEMBL) |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:3333 | AgrOrtholog |
BioCyc Gene | G2FUF-25846 | BioCyc |
Ensembl Genes | ENSRNOG00000010771 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000015092 | ENTREZGENE |
ENSRNOT00000015092.8 | UniProtKB/TrEMBL | |
ENSRNOT00000116450 | ENTREZGENE | |
ENSRNOT00000116450.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/TrEMBL |
3.10.100.10 | UniProtKB/TrEMBL | |
3.80.10.10 | UniProtKB/TrEMBL | |
PLAT/LH2 domain | UniProtKB/TrEMBL | |
InterPro | C-type_lectin | UniProtKB/TrEMBL |
C-type_lectin-like | UniProtKB/TrEMBL | |
C-type_lectin_fold | UniProtKB/TrEMBL | |
Cys-rich_flank_reg_C | UniProtKB/TrEMBL | |
GAIN_B | UniProtKB/TrEMBL | |
GPS_dom | UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/TrEMBL | |
L_dom-like | UniProtKB/TrEMBL | |
Leu-rich_rpt | UniProtKB/TrEMBL | |
Leu-rich_rpt_typical-subtyp | UniProtKB/TrEMBL | |
LipOase_LH2 | UniProtKB/TrEMBL | |
LRR-contain_N | UniProtKB/TrEMBL | |
PKD/Chitinase_dom | UniProtKB/TrEMBL | |
PKD/REJ-like | UniProtKB/TrEMBL | |
PKD1_2_channel | UniProtKB/TrEMBL | |
PKD_1 | UniProtKB/TrEMBL | |
PKD_dom | UniProtKB/TrEMBL | |
PKD_dom_sf | UniProtKB/TrEMBL | |
PLAT/LH2_dom_sf | UniProtKB/TrEMBL | |
PLAT_polycystin1 | UniProtKB/TrEMBL | |
Polycystin_cat | UniProtKB/TrEMBL | |
Polycystin_dom | UniProtKB/TrEMBL | |
REJ-like | UniProtKB/TrEMBL | |
WSC_carb-bd | UniProtKB/TrEMBL | |
NCBI Gene | 24650 | ENTREZGENE |
PANTHER | POLYCYSTIN-1 | UniProtKB/TrEMBL |
POLYCYSTIN-1 | UniProtKB/TrEMBL | |
Pfam | Lectin_C | UniProtKB/TrEMBL |
LRR_8 | UniProtKB/TrEMBL | |
PKD | UniProtKB/TrEMBL | |
PKD_channel | UniProtKB/TrEMBL | |
PLAT | UniProtKB/TrEMBL | |
Polycystin_dom | UniProtKB/TrEMBL | |
REJ | UniProtKB/TrEMBL | |
WSC | UniProtKB/TrEMBL | |
PhenoGen | Pkd1 | PhenoGen |
PRINTS | POLYCYSTIN1 | UniProtKB/TrEMBL |
PROSITE | C_TYPE_LECTIN_2 | UniProtKB/TrEMBL |
GPS | UniProtKB/TrEMBL | |
LRR | UniProtKB/TrEMBL | |
PKD | UniProtKB/TrEMBL | |
PLAT | UniProtKB/TrEMBL | |
REJ | UniProtKB/TrEMBL | |
WSC | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000010771 | RatGTEx |
SMART | CLECT | UniProtKB/TrEMBL |
GPS | UniProtKB/TrEMBL | |
LH2 | UniProtKB/TrEMBL | |
LRR_TYP | UniProtKB/TrEMBL | |
LRRCT | UniProtKB/TrEMBL | |
LRRNT | UniProtKB/TrEMBL | |
PKD | UniProtKB/TrEMBL | |
WSC | UniProtKB/TrEMBL | |
Superfamily-SCOP | C-type_lectin_fold | UniProtKB/TrEMBL |
L domain-like | UniProtKB/TrEMBL | |
Lipase_LipOase | UniProtKB/TrEMBL | |
PKD | UniProtKB/TrEMBL | |
UniProt | A0A8I6AC84 | ENTREZGENE, UniProtKB/TrEMBL |
A6HCU0 | ENTREZGENE, UniProtKB/TrEMBL | |
F1MAD3 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9ERV0 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2013-11-19 | Pkd1 | polycystic kidney disease 1 | Pkd1 | polycystic kidney disease 1 homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-12-15 | Pkd1 | polycystic kidney disease 1 homolog (human) | Pkd1 | polycystic kidney disease 1 homolog | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2002-11-06 | Pkd1 | polycystic kidney disease 1 homolog | Polycystic kidney disease 1 | Name updated | 625702 | APPROVED | |
2002-06-10 | Pkd1 | Polycystic kidney disease 1 | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
---|---|---|
gene_cellular_localization | found localized to the Golgi and lateral cell membrane | 633539 |
gene_expression | displays ubiquitous expression | 633540 |
gene_regulation | requires the Tsc2 tumor suprressor gene for correct transport from the Golgi to the lateral cell membrane | 633539 |