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
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, Adult Type I and Polycystic Kidney Disease 1, Autosomal Dominant. Among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1 Gene
Genomics for PKD1 Gene
Regulatory Elements for PKD1 Gene
Enhancers for PKD1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH16G002032 | 1.6 | Ensembl ENCODE dbSUPER | 16.7 | +97.4 | 97378 | 12.8 | PKNOX1 FOXA2 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 | PKD1 RAB26 SNORD60 TRAF7 SYNGR3 ENSG00000255513 BRICD5 JPT2 HAGH ENSG00000261123 |
| GH16G002086 | 1.5 | Ensembl ENCODE dbSUPER | 12.2 | +45.3 | 45257 | 7.8 | HDGF PKNOX1 ARNT ARID4B DMAP1 ZNF48 ZNF2 TCF12 ZNF121 ZNF143 | PKD1 ENSG00000261123 LOC105371049 TSC2 MLST8 BICDL2 MIR1225 |
| GH16G002081 | 0.9 | ENCODE dbSUPER | 12.2 | +53.2 | 53174 | 2.4 | CTCF BHLHE40 MAX REST RAD21 GABPA ZNF121 ZFHX2 HNF4A ZBTB33 | PKD1 TSC2 ENSG00000261123 MIR1225 NTHL1 |
| GH16G002439 | 0.5 | ENCODE | 9.8 | -304.5 | -304504 | 0.8 | POLR2A ZNF600 ETV6 HNRNPL RBFOX2 | TBC1D24 NTN3 ABCA3 ABCA17P RNPS1 ECI1 MIR940 PKD1 MIR6767 GC16P002435 |
| GH16G002135 | 0.9 | ENCODE | 5.3 | -0.3 | -311 | 1.5 | HDGF PKNOX1 SIN3A ZNF48 ZNF121 GLIS2 ELK1 ZNF143 SP3 SP5 | PKD1 MIR3180-5 RAB26 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PKD1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PKD1 gene promoter:
Regulatory Element Products
Genomic Location for PKD1 Gene
- Chromosome:
- 16
- Start:
- 2,088,708 bp from pter
- End:
- 2,135,898 bp from pter
- Size:
- 47,191 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 Ensembl
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
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 Asn50, Asn89, Asn116, Asn121, Asn187, posLast=621621, posLast=632632, Asn746, posLast=810810, Asn841, Asn854, posLast=890890, Asn921, posLast=10041004, posLast=10101010, posLast=10341034, Asn1072, Asn1113, posLast=11781178, posLast=11941194, posLast=12401240, posLast=12691269, Asn1336, Asn1348, posLast=13821382, posLast=14501450, posLast=14551455, Asn1474, Asn1518, Asn1541, posLast=15541554, posLast=15631563, Asn1647, posLast=16611661, Asn1733, posLast=17911791, posLast=18341834, Asn1867, Asn1880, Asn1991, posLast=20502050, posLast=20742074, Asn2125, Asn2248, Asn2353, posLast=23952395, posLast=24122412, posLast=25672567, Asn2578, posLast=26452645, Asn2718, Asn2754, Asn2841, Asn2878, Asn2925, posLast=29562956, Asn2994, Asn3738, posLast=37903790, and posLast=38453845
- 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
- Invitrogen Antibodies for PKD1
- antibodies-online Antibodies for PKD1: See all 48
- 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
- antibodies-online Kits for PKD1: See all 3
No data available for DME Specific Peptides for PKD1 Gene
Domains & Families for PKD1 Gene
Gene Families for PKD1 Gene
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
- 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
- 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005262 | calcium channel activity | IBA,ISS | -- |
| GO:0005515 | protein binding | 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 31 alleles
- mortality/aging
- cellular phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for PKD1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability in esophageal squamous lineage
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased cell migration
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased cell migration
- Decreased viability
Animal Models for PKD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PKD1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PKD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PKD1 gene
- Search ViGene Biosciences for PKD1
CRISPR Products
-
OriGene CRISPR knockouts for PKD1
-
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)
miRNA Products
- Search ViGene Biosciences for PKD1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for PKD1
- Browse OriGene Inhibitory RNA Products For PKD1
-
ViGene Biosciences ready-to-package AAV shRNAs for PKD1 gene
Clone Products
- Addgene plasmids for PKD1
- VectorBuilder custom plasmid, inducible vectors for PKD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PKD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PKD1
-
ViGene Biosciences adenoviral particle packaged cDNA for PKD1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PKD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PKD1 gene
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 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| 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 | -- |
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
IID
STRING
UniProtKB
MINT
| 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 | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for PKD1 Gene
mRNA/cDNA for PKD1 Gene
- (11) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (33) Selected AceView cDNA sequences:
- (40) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PKD1 Gene
- Polycystic kidney disease 1 (autosomal dominant):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PKD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PKD1
- GenScript: Design CRISPR guide RNA sequences for PKD1
miRNA Products
- Search ViGene Biosciences for PKD1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for PKD1
- Browse OriGene Inhibitory RNA Products For PKD1
-
ViGene Biosciences ready-to-package AAV shRNAs for PKD1 gene
Clone Products
- Addgene plasmids for PKD1
- VectorBuilder custom plasmid, inducible vectors for PKD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PKD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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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| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP26: |
| ExUns: | 34a | · | 34b | · | 34c | ^ | 35a | · | 35b | · | 35c | · | 35d | ^ | 36a | · | 36b | ^ | 37 | ^ | 38 | ^ | 39a | · | 39b | · | 39c | ^ | 40a | · | 40b | ^ | 41 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||
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| SP6: | - | ||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
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| SP15: | - | - | |||||||||||||||||||||||||||||||
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| SP25: | |||||||||||||||||||||||||||||||||
| 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, PaxDb, 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(3.1)
- Liver(2.8)
- Muscle(2.6)
- Heart(2.3)
- 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
Organs:
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
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 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PKD1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pkd1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pkd1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PKD1 35 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | PKD1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | PKD1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PKD1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pkd1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100149562 34 |
|
||
| PKD1 35 |
|
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)
Paralogs for PKD1 Gene
(1) SIMAP similar genes for PKD1 Gene using alignment to 13 proteins:
Pseudogenes.org Pseudogenes for PKD1 Gene
Variants for PKD1 Gene
| SNP ID | Clin | Chr 16 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs114251396 | Polycystic kidney disease 1 (PKD1) [MIM:173900] | 2,089,813(+) | GGCCC(A/G)GGCAA | downstream-variant-500B, upstream-variant-2KB, reference, missense | |
| rs115538130 | Polycystic kidney disease 1 (PKD1) [MIM:173900] | 2,090,179(+) | AAAGC(A/G)GACTT | downstream-variant-500B, upstream-variant-2KB, reference, missense | |
| rs139945204 | Polycystic kidney disease 1 (PKD1) [MIM:173900] | 2,100,465(+) | GAAGA(A/T)GTCCA | reference, missense | |
| rs139971481 | Polycystic kidney disease 1 (PKD1) [MIM:173900] | 2,108,418(+) | CCACC(A/G)TCACA | upstream-variant-2KB, reference, missense | |
| rs140791671 | Polycystic kidney disease 1 (PKD1) [MIM:173900] | 2,100,044(+) | GCAGG(C/T)GCCGG | reference, missense |
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)
Relevant External Links for PKD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD1 Gene
Disorders for PKD1 Gene
(29) MalaCards diseases for PKD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polycystic kidney disease, adult type i |
|
|
| polycystic kidney disease 1, autosomal dominant |
|
|
| chromosome 16p13.3 deletion syndrome |
|
|
| kidney disease |
|
|
| polycystic kidney 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.
Relevant External Links for PKD1
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 H.-S. … Kim U.K. (Clin. Genet. 2002) 3 4 22 46 64
- Structural and molecular basis of the assembly of the TRPP2/PKD1 complex. (PMID: 19556541) Yu Y. … Yang J. (Proc. Natl. Acad. Sci. U.S.A. 2009) 2 3 22 64
- Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. (PMID: 17980165) Li X. … Wilson P.D. (Biochim. Biophys. Acta 2008) 3 4 22 64
- Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (PMID: 11571556) Bouba I. … Deltas C.C. (Eur. J. Hum. Genet. 2001) 3 4 22 64
- Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PMID: 10729710) Kim U.K. … Lee C.C. (Mutat. Res. 2000) 3 4 22 64
Products for PKD1 Gene
- R&D Systems Antibodies for PKD1 (Polycystin-1/PKD1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- 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
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PKD1
- GenScript: Next-day shipping cDNA ORF clone for PKD1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PKD1
- GenScript Custom Assay Services for PKD1
- GenScript Custom overexpressing Cell Line Services for PKD1
- GenScript: Design CRISPR guide RNA sequences for PKD1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PKD1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for PKD1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for PKD1
- Addgene plasmids for PKD1
- antibodies-online Antibodies for PKD1: See all 48
- antibodies-online Kits for PKD1: See all 3
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for PKD1
- Search GeneTex for Proteins for PKD1
- ViGene Biosciences adenoviral particle packaged cDNA for PKD1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PKD1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PKD1 gene
- Search ViGene Biosciences for PKD1
- 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for PKD1
- VectorBuilder custom plasmid, inducible vectors for PKD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PKD1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer