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This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix inter... See more...
Aliases for PKD1 Gene
Aliases for PKD1 Gene
External Ids for PKD1 Gene
- HGNC: 9008
- Entrez Gene: 5310
- Ensembl: ENSG00000008710
- OMIM: 601313
- UniProtKB: P98161
Previous GeneCards Identifiers for PKD1 Gene
- GC16P016714
- GC16M002165
- GC16M002078
- GC16M002138
- GC16M002063
- GC16M002119
- GC16M002117
- GC16M002133
- GC16M002170
- GC16M002091
- GC16M002092
- GC16M002097
- GC16M002109
Summaries for PKD1 Gene
-
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
GeneCards Summary for PKD1 Gene
PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1 include Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is PKD1L1.
UniProtKB/Swiss-Prot Summary for PKD1 Gene
-
Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.
Additional gene information for PKD1 Gene
- HGNC(9008)
- Entrez Gene(5310)
- Ensembl(ENSG00000008710)
- OMIM(601313)
- UniProtKB(P98161)
- Open Targets Platform(ENSG00000008710)
- Monarch Initiative
- Search for PKD1 at DataMed
- Search for PKD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKD1 Gene
Genomics for PKD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PKD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PKD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKD1
- Top Transcription factor binding sites by QIAGEN in the PKD1 gene promoter:
-
- AP-1
- CREB
- deltaCREB
Genomic Locations for PKD1 Gene
Genomic Locations for PKD1 Gene
- chr16:2,088,708-2,135,898
- (GRCh38/hg38)
- Size:
- 47,191 bases
- Orientation:
- Minus strand
- chr16:2,138,711-2,185,899
- (GRCh37/hg19)
- Size:
- 47,189 bases
- Orientation:
- Minus strand
Genomic View for PKD1 Gene
Genes around PKD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by HGNC
- 16p13.3 by Entrez Gene
- 16p13.3 by Ensembl
PKD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PKD1 Gene
Proteins for PKD1 Gene
-
Protein details for PKD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P98161-PKD1_HUMAN
- Recommended name:
- Polycystin-1
- Protein Accession:
- P98161
- Q15140
- Q15141
Protein attributes for PKD1 Gene
- Size:
- 4303 amino acids
- Molecular mass:
- 462529 Da
- Quaternary structure:
-
- Interacts with PKD2; the interaction is required for ciliary localization (PubMed:20881056). Component of a heterotetrameric channel complex with PKD2; the tetramer contains one PKD1 chain and three PKD2 chains (PubMed:30093605). Interacts with PKD2L1 (By similarity). Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165). Interacts (via extracellular domain) with WNT3A, WNT4, WNT5A and WNT9B (PubMed:27214281). Interacts with DVL1 and DVL2 (PubMed:27214281). Interacts with NPHP1 (via SH3 domain) (PubMed:20856870). Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912). Interacts with RGS7 (PubMed:10339594).
Protein Expression for PKD1 Gene
Post-translational modifications for PKD1 Gene
- After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo.
-
Glycosylation at Asn50, Asn89, Asn116, Asn121, Asn187, Asn621, Asn632, Asn746, Asn810, Asn841, Asn854, Asn890, Asn921, Asn1004, Asn1010, Asn1034, Asn1072, Asn1113, Asn1178, Asn1194, Asn1240, Asn1269, Asn1336, Asn1348, Asn1382, Asn1450, Asn1455, Asn1474, Asn1518, Asn1541, Asn1554, Asn1563, Asn1647, Asn1661, Asn1733, Asn1791, Asn1834, Asn1867, Asn1880, Asn1991, Asn2050, Asn2074, Asn2125, Asn2248, Asn2353, Asn2395, Asn2412, Asn2567, Asn2578, Asn2645, Asn2718, Asn2754, Asn2841, Asn2878, Asn2925, Asn2956, Asn2994, Asn3738, Asn3790, and Asn3845
- NX_P98161 (NX_P98161-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PKD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PKD1
-
Abcam antibodies for PKD1
- Invitrogen Antibodies for PKD1 (AFLGC-PKD1)
- antibodies-online: Show 87 available PKD1 Antibodies ranked by validation data
- Compare Top PKD1 Antibodies
-
Recommended
- 31 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 9 IHC (p) Antibodies (anti-human)
- 8 IHC Antibodies (anti-human)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
-
Boster Bio Antibodies for PKD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PKD1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PKD1
- Origene Custom Protein Services for PKD1
-
Signalway Proteins for PKD1
Assay Products
- G Biosciences Immunotag™ Human PKD1 (Polycystin-1) ELISA and Immunotag™ Polycystin-1 ELISA Kit
- antibodies-online: Show 8 available PKD1 Elisa Kits ranked by validation data
- Compare Top PKD1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for PKD1
No data available for DME Specific Peptides for PKD1 Gene
Domains & Families for PKD1 Gene
Gene Families for PKD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for PKD1 Gene
- InterPro:
-
- Ig-like_fold
- C-type_lectin-like
- C-type_lectin-like/link_sf
- CTDL_fold
- Cys-rich_flank_reg_C
- GPS
- Leu-rich_rpt
- Leu-rich_rpt_typical-subtyp
- LRR_dom_sf
- PLAT/LH2_dom
- PLAT/LH2_dom_sf
- LRRNT
- PKD_dom
- PKD_dom_sf
- PKD/Chitinase_dom
- PKD/REJ-like
- WSC_carb-bd
- PKD1_2_channel
- PLAT_polycystin1
- REJ_dom
- PC1
- Polycystin_cat
- Blocks:
-
- Cysteine-rich flanking region, N-terminal
- Cysteine-rich flanking region, C-terminal
- Low density lipoprotein-receptor, class A
- PKD
- PKD/REJ-like protein
- Carbohydrate-binding WSC
- Polycystic kidney disease type 1 protein (PKD1) signature
- Rubredoxin
- ProtoNet:
Suggested Antigen Peptide Sequences for PKD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Polysystin 1 (C1JFL5_HUMAN)
- Polysystin 1 (C1JFL6_HUMAN)
- Polysystin 1 (C1JFL7_HUMAN)
- PKD1 (O75276_HUMAN)
- Autosomal dominant polycystic kidney disease 1 protein (PKD1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P98161UniProtKB/Swiss-Prot:
PKD1_HUMAN :- The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.
- Belongs to the polycystin family.
- Domain:
-
- The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.
- Family:
-
- Belongs to the polycystin family.
Function for PKD1 Gene
Molecular function for PKD1 Gene
- UniProtKB/Swiss-Prot Function:
- Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.
- GENATLAS Biochemistry:
- polycystin 1,integral membrane protein with a duplicated portion,involved in cell/matrix interactions,expressed by epithelial renal tubular cells in fetal,ductal epithelia of the liver,pancreas,lung,breast,reproductive organs,modulating WNT signaling during renal development,binding and activating heteromeric G-proteins in vitro,required for the structural integrity of blood vessels,homolog to C elegans lov-1,involved in regulating ion transport
Phenotypes From GWAS Catalog for PKD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005262 | calcium channel activity | ISS | -- |
| GO:0005515 | protein binding | IEA,IPI | 10097141 |
| GO:0019901 | protein kinase binding | IPI | 17980165 |
| GO:0019904 | protein domain specific binding | IPI | 9171830 |
| GO:0030246 | carbohydrate binding | IEA | -- |
Phenotypes for PKD1 Gene
- MGI mutant phenotypes for PKD1:
-
inferred from 32 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for PKD1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Decreased NF-kappaB reporter expression
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased cell migration
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased viability
- Decreased focal adhesion (FA) abundance, increased peripheral FA formation, increased cell elongation
Animal Models for PKD1 Gene
- MGI Knock Outs for PKD1:
-
- Pkd1 Pkd1<tm1Jzh>
- Pkd1 Pkd1<tm2.2Bol>
- Pkd1 Pkd1<tm2Jzh>
- Pkd1 Pkd1<tm3.2Bol>
- Pkd1 Pkd1<tm1Ggg>
- Pkd1 Pkd1<tm1Maa>
- Pkd1 Pkd1<tm1Rsa>
- Pkd1 Pkd1<tm1Shh>
- Pkd1 Pkd1<tm1Som>
- Pkd1 Pkd1<tm2.1Ggg>
- Pkd1 Pkd1<tm1.2Djmp>
- Pkd1 Pkd1<tm1.2Bol>
- Pkd1 Pkd1<tm1b(EUCOMM)Hmgu>
- Pkd1 Pkd1<tm2.1Som>
- Pkd1 Pkd1<tm2Pcha>
- Pkd1 Pkd1<tm3.1Jzh>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PKD1 - Select products 50% OFF >
- * PKD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD1
miRNA for PKD1 Gene
- miRTarBase miRNAs that target PKD1
-
- hsa-miR-615-3p (MIRT040353)
- hsa-miR-484 (MIRT041636)
- hsa-miR-324-5p (MIRT043090)
- mmu-miR-200a-3p (MIRT053221)
- mmu-miR-200b-3p (MIRT053222)
- hsa-miR-20a-5p (MIRT438812)
- hsa-miR-200c-3p (MIRT438840)
- hsa-miR-451a (MIRT438843)
- hsa-miR-412-3p (MIRT439961)
- hsa-miR-377-3p (MIRT439962)
- hsa-miR-127-5p (MIRT439963)
- hsa-miR-6749-3p (MIRT611957)
- hsa-miR-6792-3p (MIRT611958)
- hsa-miR-4691-5p (MIRT611959)
- hsa-miR-920 (MIRT611960)
- hsa-miR-6726-5p (MIRT611961)
- hsa-miR-5591-5p (MIRT611962)
- hsa-miR-4300 (MIRT611963)
- hsa-miR-6090 (MIRT611964)
- hsa-miR-6827-5p (MIRT611965)
- hsa-miR-3192-5p (MIRT611966)
- hsa-miR-3667-3p (MIRT611967)
- hsa-miR-6791-5p (MIRT611968)
- hsa-miR-4292 (MIRT611969)
- hsa-miR-4704-3p (MIRT611970)
- hsa-miR-3620-3p (MIRT611971)
- hsa-miR-504-5p (MIRT611972)
- hsa-miR-8485 (MIRT611973)
- hsa-miR-4787-5p (MIRT706042)
- hsa-miR-6770-3p (MIRT706043)
- hsa-miR-4278 (MIRT706044)
- hsa-miR-6789-5p (MIRT706045)
- hsa-miR-6824-5p (MIRT706046)
- hsa-miR-8065 (MIRT706047)
- hsa-miR-486-3p (MIRT706048)
- hsa-miR-6721-5p (MIRT706049)
- hsa-miR-4467 (MIRT706050)
- hsa-miR-4763-3p (MIRT706051)
- hsa-miR-1207-5p (MIRT706052)
- hsa-miR-5192 (MIRT706053)
- hsa-miR-4644 (MIRT706054)
- hsa-miR-4306 (MIRT706055)
- hsa-miR-185-5p (MIRT706056)
- hsa-miR-6722-3p (MIRT706057)
- hsa-miR-1909-3p (MIRT706058)
- hsa-miR-6836-5p (MIRT706059)
- hsa-miR-6132 (MIRT706060)
- hsa-miR-4462 (MIRT706061)
- hsa-miR-6730-3p (MIRT706062)
- hsa-miR-6754-5p (MIRT706063)
- hsa-miR-4441 (MIRT706064)
- hsa-miR-4270 (MIRT706065)
- hsa-miR-3681-3p (MIRT706066)
- hsa-miR-216a-3p (MIRT706067)
- hsa-miR-128-3p (MIRT706068)
- hsa-miR-6813-5p (MIRT706069)
- hsa-miR-6085 (MIRT706070)
- hsa-miR-6743-5p (MIRT706071)
- hsa-miR-4688 (MIRT706072)
- hsa-miR-3914 (MIRT706073)
- hsa-miR-888-3p (MIRT706074)
- hsa-miR-1234-3p (MIRT736278)
- hsa-miR-200b-3p (MIRT738767)
- hsa-miR-2277-3p (MIRT739115)
- hsa-miR-429 (MIRT743827)
- hsa-miR-548a-5p (MIRT750470)
- hsa-miR-548ab (MIRT750480)
- hsa-miR-548ad-5p (MIRT750493)
- hsa-miR-548ae-5p (MIRT750503)
- hsa-miR-548ak (MIRT750531)
- hsa-miR-548am-5p (MIRT750543)
- hsa-miR-548ap-5p (MIRT750565)
- hsa-miR-548aq-5p (MIRT750575)
- hsa-miR-548ar-5p (MIRT750588)
- hsa-miR-548as-5p (MIRT750596)
- hsa-miR-548au-5p (MIRT750616)
- hsa-miR-548ay-5p (MIRT750638)
- hsa-miR-548b-5p (MIRT750659)
- hsa-miR-548bb-5p (MIRT750671)
- hsa-miR-548c-5p (MIRT750680)
- hsa-miR-548d-5p (MIRT750691)
- hsa-miR-548h-5p (MIRT750736)
- hsa-miR-548i (MIRT750742)
- hsa-miR-548j-5p (MIRT750752)
- hsa-miR-548o-5p (MIRT750774)
- hsa-miR-548w (MIRT750816)
- hsa-miR-548y (MIRT750833)
- hsa-miR-559 (MIRT751091)
- hsa-miR-6777-3p (MIRT755379)
- hsa-miR-6820-5p (MIRT756885)
- hsa-miR-7107-5p (MIRT758916)
- hsa-miR-8084 (MIRT760182)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PKD1
- Browse OriGene Inhibitory RNA Products For PKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1
Clone Products
- Applied Biological Materials (abm): Clones for PKD1 - Select products 50% OFF >
- * PKD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Addgene plasmids for PKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD1
Cell Line Products
-
Horizon Cell Lines for PKD1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PKD1 Gene
Localization for PKD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PKD1 Gene
- Cell membrane. Multi-pass membrane protein. Cell projection, cilium. Endoplasmic reticulum. Golgi apparatus. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain. PKD1:PKD2 interaction is required to reach the Golgi apparatus from endoplasmic reticulum and then traffic to the cilia (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053). {ECO:0000250 UniProtKB:O08852, ECO:0000269 PubMed:27259053}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 4 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0002133 | polycystin complex | ISS | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | ISS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PKD1 Gene
Pathways & Interactions for PKD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cargo trafficking to the periciliary membrane | ||
| 2 | Organelle biogenesis and maintenance |
.56
|
|
| 3 | Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway | ||
Pathways by source for PKD1 Gene
1 BioSystems pathway for PKD1 Gene
4 Reactome pathways for PKD1 Gene
Interacting Proteins for PKD1 Gene
Selected Interacting proteins:
P98161-PKD1_HUMAN
ENSP00000262304
for PKD1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PKD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001502 | cartilage condensation | IEA | -- |
| GO:0001568 | blood vessel development | IEA | -- |
| GO:0001701 | in utero embryonic development | ISS | -- |
| GO:0001822 | kidney development | IEA,ISS | -- |
| GO:0001889 | liver development | IEA | -- |
Drugs & Compounds for PKD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | 6556 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for PKD1 Gene
mRNA/cDNA for PKD1 Gene
- 2 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 40 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262304 14140 nts (view in UCSC)
- ENST00000415938 3386 nts (view in UCSC)
- ENST00000423118 14135 nts (view in UCSC)
- ENST00000468674 490 nts (view in UCSC)
- ENST00000469241 659 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PKD1 - Select products 50% OFF >
- * PKD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PKD1
- Browse OriGene Inhibitory RNA Products For PKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1
Clone Products
- Applied Biological Materials (abm): Clones for PKD1 - Select products 50% OFF >
- * PKD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for PKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| ExUns: | 19d | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30a | · | 30b | · | 30c | · | 30d | ^ | 31a | · | 31b | ^ | 32a | · | 32b | ^ | 33a | · | 33b | ^ |
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| ExUns: | 34a | · | 34b | · | 34c | ^ | 35a | · | 35b | · | 35c | · | 35d | ^ | 36a | · | 36b | ^ | 37 | ^ | 38 | ^ | 39a | · | 39b | · | 39c | ^ | 40a | · | 40b | ^ | 41 |
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Relevant External Links for PKD1 Gene
- GeneLoc Exon Structure for
- PKD1
Expression for PKD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Osteochondro Progenitor Cells Branchial Arch 1
- Chondrocytes Synchondroses
- Prechondrocytes Synchondroses
- Stylopod Long Bone
-
Cartilage (Muscoskeletal System)
- Osteochondro Progenitor Cells Branchial Arch 1
- Chondrocytes Synchondroses
- Prechondrocytes Synchondroses
-
Head Mesenchyme (Muscoskeletal System)
- Osteochondro Progenitor Cells Branchial Arch 1
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Lower Urinary Tract (Urinary System)
- Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for PKD1 Gene
This gene is overexpressed in Brain - Cerebellum (x7.0) and Brain - Cerebellar Hemisphere (x6.2).
This gene is overexpressed in Retina (10.1), Plasma (7.4), Bone marrow mesenchymal stem cell (6.6), and Stomach (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKD1
SOURCE GeneReport for Unigene cluster for PKD1 Gene:
Hs.75813Evidence on tissue expression from TISSUES for PKD1 Gene
- Nervous system(4.6)
- Kidney(3.4)
- Muscle(3.2)
- Liver(3)
- Heart(3)
- Eye(2.9)
- Skin(2.7)
- Intestine(2.6)
- Pancreas(2.5)
- Lung(2.5)
- Blood(2.2)
- Spleen(2.1)
- Stomach(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PKD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- head
Thorax:
- heart
- heart valve
- lung
Abdomen:
- intestine
- kidney
- large intestine
- liver
Pelvis:
- ureter
- urinary bladder
General:
- blood vessel
- skin
Primer Products
-
OriGene qPCR primer pairs for PKD1
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PKD1 Gene
Orthologs for PKD1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Cow (Bos Taurus) |
Mammalia | PKD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PKD1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pkd1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pkd1 30 17 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | PKD1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PKD1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | PKD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PKD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pkd1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100149562 30 |
|
||
| PKD1 31 |
|
OneToOne |
- Species where no ortholog for PKD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for PKD1 Gene
- ENSEMBL:
- Gene Tree for PKD1 (if available)
- TreeFam:
- Gene Tree for PKD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PKD1: view image
Paralogs for PKD1 Gene
Paralogs for PKD1 Gene
(1) SIMAP similar genes for PKD1 Gene using alignment to 13 proteins:
- PKD1_HUMAN
- C1JFL5_HUMAN
- C1JFL6_HUMAN
- C1JFL7_HUMAN
- H3BQF4_HUMAN
- H3BSE8_HUMAN
- H3BSE9_HUMAN
- H3BTE0_HUMAN
- H3BTG3_HUMAN
- H3BV77_HUMAN
- I3L4N0_HUMAN
- O75276_HUMAN
- Q15142_HUMAN
Pseudogenes.org Pseudogenes for PKD1 Gene
Variants for PKD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKD1 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 618314 | Uncertain Significance: not provided | 2,114,237(-) | TCCG/T | INFRAME_DELETION | |
| 635437 | Pathogenic: Polycystic kidney disease, adult type | 2,111,685(-) | C/T | NONSENSE | |
| 635438 | Pathogenic: Polycystic kidney disease, adult type | 2,092,953(-) | C/G | SPLICE_DONOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 635485 | Uncertain Significance: Polycystic kidney disease, adult type | 2,100,267(-) | T/G | MISSENSE_VARIANT | |
| 635486 | Uncertain Significance: Polycystic kidney disease, adult type | 2,099,760(-) | C/T | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.51;
91.10% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PKD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD1 Gene
Disorders for PKD1 Gene
(46) MalaCards diseases for PKD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
Search PKD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PKD1_HUMAN- Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]: An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. {ECO:0000269 PubMed:10200984, ECO:0000269 PubMed:10364515, ECO:0000269 PubMed:10577909, ECO:0000269 PubMed:10647901, ECO:0000269 PubMed:10729710, ECO:0000269 PubMed:10854095, ECO:0000269 PubMed:10923040, ECO:0000269 PubMed:10987650, ECO:0000269 PubMed:11012875, ECO:0000269 PubMed:11058904, ECO:0000269 PubMed:11115377, ECO:0000269 PubMed:11216660, ECO:0000269 PubMed:11316854, ECO:0000269 PubMed:11558899, ECO:0000269 PubMed:11571556, ECO:0000269 PubMed:11691639, ECO:0000269 PubMed:11773467, ECO:0000269 PubMed:11857740, ECO:0000269 PubMed:11967008, ECO:0000269 PubMed:12007219, ECO:0000269 PubMed:12070253, ECO:0000269 PubMed:12220456, ECO:0000269 PubMed:12482949, ECO:0000269 PubMed:12842373, ECO:0000269 PubMed:15772804, ECO:0000269 PubMed:18837007, ECO:0000269 PubMed:21115670, ECO:0000269 PubMed:22508176, ECO:0000269 PubMed:8554072, ECO:0000269 PubMed:9199561, ECO:0000269 PubMed:9259200, ECO:0000269 PubMed:9285784, ECO:0000269 PubMed:9521593, ECO:0000269 PubMed:9921908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PKD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PKD1 Gene
Publications for PKD1 Gene
- Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PMID: 12220456) Eo HS … Kim UK (Clinical genetics 2002) 3 4 23 41
- Structural and molecular basis of the assembly of the TRPP2/PKD1 complex. (PMID: 19556541) Yu Y … Yang J (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 23
- Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. (PMID: 17980165) Li X … Wilson PD (Biochimica et biophysica acta 2008) 3 4 23
- Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. (PMID: 17525154) Wei W … Qian F (The Journal of biological chemistry 2007) 3 4 23
- Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (PMID: 11571556) Bouba I … Deltas CC (European journal of human genetics : EJHG 2001) 3 4 23
ExternalLinks
Products for PKD1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PKD1
- Origene Custom Protein Services for PKD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PKD1
- Browse OriGene Inhibitory RNA Products For PKD1
- OriGene qPCR primer pairs for PKD1
- OriGene CRISPR knockouts for PKD1
- OriGene ORF clones in human for PKD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PKD1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Browse Antibodies
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- Invitrogen Antibodies for PKD1 (AFLGC-PKD1)
- VectorBuilder Custom and pre-made DNA vectors for PKD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PKD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PKD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PKD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PKD1
- Addgene plasmids for PKD1
- antibodies-online: Show 87 available PKD1 Antibodies ranked by validation data
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- Recommended
- 31 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 9 IHC (p) Antibodies (anti-human)
- 8 IHC Antibodies (anti-human)
- 15 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- 13 WB Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- antibodies-online: Show 8 available PKD1 Elisa Kits ranked by validation data
- Compare Top PKD1 Elisa Kits
- Quality Products:
- antibodies-online: Show 4 available PKD1 Proteins ranked by validation data
- Compare Top PKD1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PKD1
- Search Santa Cruz Biotechnology (SCBT) for PKD1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PKD1
- Horizon Cell Lines for PKD1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1
- Boster Bio Antibodies for PKD1
- Browse Boster Bio ELISA Kits
Sources for PKD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB