Aliases for PKD1 Gene
Aliases for PKD1 Gene
- Polycystin 1, Transient Receptor Potential Channel Interacting 2 3 5
- Transient Receptor Potential Cation Channel, Subfamily P, Member 1 2 3
- Autosomal Dominant Polycystic Kidney Disease 1 Protein 3 4
- Polycystic Kidney Disease 1 (Autosomal Dominant) 2 3
- PC1 3 4
- Polycystic Kidney Disease-Associated Protein 3
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
- GC16M002091
- GC16M002092
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 for PKD1 Gene
-
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
- Monarch Initiative
- Search for PKD1 at DataMed
- Search for PKD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1 Gene
Genomics for PKD1 Gene
GeneHancer (GH) Regulatory Elements for PKD1 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PKD1 gene promoter:
-
- AP-1
- deltaCREB
- CREB
Regulatory Element Products
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 Entrez Gene
- 16p13.3 by HGNC
- 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 and PKD2L1 (By similarity). Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165). 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 Asn3845, Asn3790, Asn3738, isoforms=2, 32994, Asn2956, Asn2925, isoforms=2, 32878, Asn2841, Asn2754, Asn2718, isoforms=2, 32645, isoforms=2, 32578, Asn2567, Asn2412, Asn2395, isoforms=2, 32353, isoforms=2, 32248, isoforms=2, 32125, isoforms=2, 32074, Asn2050, isoforms=2, 31991, Asn1880, Asn1867, Asn1834, isoforms=2, 31791, Asn1733, isoforms=2, 31661, isoforms=2, 31647, isoforms=2, 31563, Asn1554, Asn1541, isoforms=2, 31518, Asn1474, Asn1455, Asn1450, isoforms=2, 31382, Asn1348, Asn1336, isoforms=2, 31269, Asn1240, isoforms=2, 31194, isoforms=2, 31178, Asn1113, isoforms=2, 31072, Asn1034, isoforms=2, 31010, Asn1004, Asn921, isoforms=2, 3890, isoforms=2, 3854, Asn841, isoforms=2, 3810, Asn746, isoforms=2, 3632, isoforms=2, 3621, isoforms=2, 3187, isoforms=2, 3121, isoforms=2, 3116, Asn89, and Asn50
- Modification sites at PhosphoSitePlus
Other Protein References for PKD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PKD1 (Polycystin-1/PKD1)
- Novus Biologicals Antibodies for PKD1
-
Abcam antibodies for PKD1
- Invitrogen Antibodies for PKD1 (AFLGC-PKD1)
- Search GeneTex for 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
- Search GeneTex for Proteins for PKD1
Assay Products
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:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PKD1 Gene
- GenScript: Design optimal peptide antigens:
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:
- 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 | IPI,IEA | 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 31 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PKD1:
-
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased viability in esophageal squamous lineage
- Decreased viability
- Increased cell migration
- Decreased cell migration
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for PKD1 Gene
- MGI Knock Outs for PKD1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PKD1
-
CRISPR Products
-
OriGene CRISPR knockouts for PKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD1
- genomics-online: gRNA clones - Search results for available PKD1 gene related products
- Applied Biological Materials CRISPR for PKD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD1
- GenScript: Design CRISPR guide RNA sequences 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)
- 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
- genomics-online: shRNA clones - Search results for available PKD1 gene related products
Clone Products
- Addgene plasmids for PKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD1
- genomics-online: cdna clones - Search results for available PKD1 gene related products
- orf clones - Search results for available PKD1 gene related products
- Applied Biological Materials Clones for PKD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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. 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 (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 |
| golgi apparatus | 4 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0002133 | polycystin complex | ISS | -- |
| GO:0005634 | nucleus | ISS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
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
MINT
STRING
UniProtKB
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 | ISS,IEA | -- |
| GO:0001889 | liver development | IEA | -- |
Drugs & Compounds for PKD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for PKD1 Gene
mRNA/cDNA for PKD1 Gene
- (10) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (33) Selected AceView cDNA sequences:
- (40) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000262304 14138 bps (uc002cos.1)
- ENST00000423118 14135 bps (uc002cot.1)
- ENST00000472577 1140 bps (uc059pgl.1)
- ENST00000564313 568 bps (uc059pgm.1)
- ENST00000561668 665 bps (uc059pgn.1)
Unigene Clusters for PKD1 Gene
- Polycystic kidney disease 1 (autosomal dominant):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PKD1
- genomics-online: gRNA clones - Search results for available PKD1 gene related products
- Applied Biological Materials CRISPR for PKD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available PKD1 gene related products
Clone Products
- Addgene plasmids for PKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PKD1
- genomics-online: cdna clones - Search results for available PKD1 gene related products
- orf clones - Search results for available PKD1 gene related products
- Applied Biological Materials Clones for PKD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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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| SP26: |
| 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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| SP26: | - | - |
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
NURSA nuclear receptor signaling pathways regulating expression of PKD1 Gene:
PKD1SOURCE GeneReport for Unigene cluster for PKD1 Gene:
Hs.75813Evidence on tissue expression from TISSUES for PKD1 Gene
- Nervous system(4.5)
- Kidney(3.2)
- Liver(2.8)
- Muscle(2.7)
- Heart(2.4)
- Lung(2.1)
- Intestine(2)
- Skin(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
- genomics-online: primer clones - Search results for available PKD1 gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PKD1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pkd1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pkd1 16 34 33 |
|
||
| chimpanzee (Pan troglodytes) |
Mammalia | PKD1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PKD1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | PKD1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PKD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pkd1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100149562 33 |
|
||
| PKD1 34 |
|
OneToOne |
- Species where no ortholog for PKD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
(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
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1033550407 | kidney disease 1 (PKD1) [MIM:173900] | 2,111,442(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1045675831 | likely-pathogenic, Autosomal recessive polycystic kidney disease | 2,089,927(-) | G/A/C | coding_sequence_variant, missense_variant, stop_gained | |
| rs1051758 | uncertain-significance, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome | 2,088,485(-) | C/A/G/T | downstream_transcript_variant | |
| rs1051771 | likely-benign, benign, conflicting-interpretations-of-pathogenicity, Hereditary cancer-predisposing syndrome, not specified, Tuberous sclerosis 2, Tuberous sclerosis syndrome | 2,088,583(-) | G/A/C/T | downstream_transcript_variant | |
| rs1057516041 | pathogenic, Polycystic kidney disease, adult type | 2,094,127(-) | C/A/T | coding_sequence_variant, missense_variant, stop_gained |
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
(31) MalaCards diseases for PKD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polycystic kidney disease 1 with or without polycystic liver disease |
|
|
| autosomal dominant polycystic kidney disease |
|
|
| renal dysplasia, cystic |
|
|
| multicystic dysplastic kidney |
|
|
| polycystic kidney disease 4 with or without polycystic liver disease |
|
Search PKD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PKD1_HUMAN- Polycystic kidney disease 1 (PKD1) [MIM:173900]: A 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
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 22 44 58
- 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 22 58
- 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 22 58
- 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 22 58
- Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PMID: 10729710) Kim UK … Lee CC (Mutation research 2000) 3 4 22 58
Products for PKD1 Gene
- R&D Systems Antibodies for PKD1 (Polycystin-1/PKD1)
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- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PKD1
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for PKD1
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- 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
- GenScript: Next-day shipping of latest version cDNA ORF clones for PKD1 in any vector
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- GenScript Custom overexpressing Cell Line Services for PKD1
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- CloneReady with Over 120,000 Genes
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- Browse Sino Biological cDNA Clones
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- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Browse ELISA Kits
- Abcam antibodies for PKD1
- Find your target
- Browse Primary Antibodies
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for PKD1 (AFLGC-PKD1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for PKD1
- Addgene plasmids for PKD1
- antibodies-online: Search results for 60 available PKD1 Antibodies ranked by validation data
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- antibodies-online: Search results for 7 available PKD1 Elisa Kits ranked by validation data
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- Recommended
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- Search GeneTex for Antibodies for PKD1
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- 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
- genomics-online: cdna clones - Search results for available PKD1 gene related products
- orf clones - Search results for available PKD1 gene related products
- genomics-online: gRNA clones - Search results for available PKD1 gene related products
- genomics-online: primer clones - Search results for available PKD1 gene related products
- genomics-online: shRNA clones - Search results for available PKD1 gene related products
- 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
- GeneCopoeia miRNA 3'UTR Target clone products for PKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1
Sources for PKD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt