Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PKD1 Gene

protein-coding GIFtS: 65
GCID: GC16M002138

polycystic kidney disease 1 (autosomal dominant)

Explore 50 diseases affiliated with
PKD1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Polycystic Kidney Disease 1 (Autosomal Dominant)¹ ²		Polycystic Kidney Disease-Associated Protein²
PBP¹ ²		Polycystin 1²
Pc-1¹ ²		Polycystin-1¹
TRPP1¹ ²		Transient Receptor Potential Cation Channel, Subfamily P, Member 1²
Autosomal Dominant Polycystic Kidney Disease 1 Protein² ³

External Ids:	HGNC: 9008¹	Entrez Gene: 5310²	Ensembl: ENSG00000008710⁷	OMIM: 601313⁵	UniProtKB: P98161³

Export aliases for PKD1 gene to outside databases

Previous GC identifers: GC16P016714 GC16M002165 GC16M002078 GC16M002063

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PKD1:

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)

UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161

Function: Involved in renal tubulogenesis. 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. 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

Gene Wiki entry for PKD1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PKD1 gene promoter:
CREB AP-1 deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PKD1 promoter sequence

Search SABiosciences Chromatin IP Primers for PKD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

PKD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M002138: view genomic region (about GC identifiers)

Start:	2,138,711 bp from pter	End:	2,185,899 bp from pter
Size:	47,189 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161 (See protein sequence)

Recommended Name: Polycystin-1 precursor

Size: 4303 amino acids; 462529 Da

Subunit: Interacts with PKD2. Interacts with PRKX; involved in differentiation and controlled morphogenesis of the

kidney. Interacts with NPHP1 (via SH3 domain)

Subcellular location: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity). 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

Caution: Variant Cys-2379 has been originally described as a benign polymorphism (PubMed:10854095). However, it is a

likely pathogenic mutation (PubMed:PubMed:22508176)

1 PDB 3D structure from and Proteopedia for PKD1:

1B4R (3D)

Secondary accessions: Q15140 Q15141

Alternative splicing: 3 isoforms: P98161-1 P98161-2 P98161-3

Explore the universe of human proteins at neXtProt for PKD1: NX_P98161

Post-translational modifications:

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

vivo¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P98161

PKD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000287.3 NP_001009944.2

ENSEMBL proteins:

ENSP00000262304 ENSP00000399501 ENSP00000461391 ENSP00000457132 ENSP00000455753

ENSP00000457984 ENSP00000455382 ENSP00000457162 ENSP00000456670 ENSP00000456672

Human Recombinant Protein Products for PKD1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for PKD1
	GenScript Custom Purified and Recombinant Proteins Services for PKD1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PKD1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002133	polycystin complex	ISS	--
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	ISS	--
GO:0005886	plasma membrane	--	--
GO:0005887	integral to plasma membrane	TAS	7663510

PKD1 for ontologies About GeneDecksing

PKD1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for PKD1 (Polycystin-1/PKD1)
	Browse OriGene Antibodies OriGene Custom Antibody Services for PKD1
	GenScript Custom Superior Antibodies Services for PKD1
	Novus Biologicals PKD1 Antibodies
	Abcam antibodies for PKD1
	Uscn Antibodies for PKD1
	ThermoFisher Antibodies for PKD1

Assay Products for PKD1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PKD1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PKD1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PKD1 for domains About GeneDecksing

5/19 InterPro domains/families (see all 19):

IPR002859 PKD/REJ-like

IPR000483 Cys-rich_flank_reg_C

IPR000601 PKD_dom

IPR001611 Leu-rich_rpt

IPR002889 WSC_carb-bd

Graphical View of Domain Structure for InterPro Entry P98161

ProtoNet protein and cluster: P98161

5/8 Blocks protein families (see all 8):

IPB000372 Cysteine-rich flanking region

IPB000434 Polycystic kidney disease type 1 protein (PKD1) signature

IPB000483 Cysteine-rich flanking region

IPB000601 PKD

IPB001052 Rubredoxin

UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161

Domain: The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing

Similarity: Belongs to the polycystin family

Similarity: Contains 1 C-type lectin domain

Similarity: Contains 1 GPS domain

Similarity: Contains 1 LDL-receptor class A domain

Similarity: Contains 2 LRR (leucine-rich) repeats

Similarity: Contains 1 LRRCT domain

Similarity: Contains 1 LRRNT domain

Similarity: Contains 17 PKD domains

Similarity: Contains 1 PLAT domain

Similarity: Contains 1 REJ domain

Similarity: Contains 1 WSC domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PKD1_HUMAN, P98161

Function: Involved in renal tubulogenesis. 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. 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 entry for PKD1:

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

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005261	cation channel activity	ISS	--
GO:0005515	protein binding	IPI	--
GO:0019901	protein kinase binding	IPI	17980165
GO:0019904	protein domain specific binding	IPI	9171830
GO:0030246	carbohydrate binding	IEA	--

PKD1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for PKD1:

Decreased focal adhesion (FA)

15/21 MGI mutant phenotypes (inferred from 26 alleles) (MGI details for Pkd1) (see all 21):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle

PKD1 for phenotypes           About GeneDecksing

Animal Models:
     Mouse knock-outs for PKD1: Pkd1^tm2.1Ggg Pkd1^tm1Jzh Pkd1^tm1Maa Pkd1^tm1.2Djmp Pkd1^tm2.2Bol Pkd1^tm1.2Bol
                                               Pkd1^tm1Shh Pkd1^tm2.1Som Pkd1^tm3.2Bol Pkd1^tm2Jzh Pkd1^tm3.1Jzh Pkd1^tm1Ggg Pkd1^tm1Som

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PKD1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKD1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKD1
		8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate PKD1 (see all 33):
		hsa-miR-3194-5p hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-106a hsa-miR-372 hsa-miR-93 hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: PKD1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKD1 (see all 3) OriGene siRNA: PKD1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKD1
		Sirion Biotech Custom design and validation of potent shRNA sequences against PKD1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PKD1
			Sirion Biotech Customized adenovirus for potent knockdown of PKD1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PKD1 (NM_000296)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKD1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PKD1
		Search LifeMap BioReagents cell lines for PKD1
		Sirion Biotech Customized stable knockdown cell line services for PKD1 Sirion Biotech Customized inducible knockdown cell line services for PKD1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Calcium channels

Calcium channels

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PKD1

Calcium channels

PKD1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PKD1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/35 Interacting proteins for PKD1 (P98161^{2, 3} ENSP00000262304⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NPHP1	O15259²^,³, ENSP00000313169⁴	MINT-8109642 MINT-8109661 I2D: score=1 STRING: ENSP00000313169
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110647 I2D: score=3 STRING: ENSP00000361423
FYN	P06241²^,³, ENSP00000357656⁴	MINT-8111439 I2D: score=3 STRING: ENSP00000357656
ATF7IP	Q6VMQ6²^,³	MINT-61896 I2D: score=3
PKD2	Q13563²^,³, ENSP00000237596⁴	MINT-7895347 MINT-7895311 MINT-7895557 MINT-7895283 MINT-7895327 MINT-7895498 MINT-7895375 I2D: score=7 STRING: ENSP00000237596

About this table

Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001502	cartilage condensation	--	--
GO:0001568	blood vessel development	--	--
GO:0001701	in utero embryonic development	ISS	--
GO:0001822	kidney development	ISS	--
GO:0001892	embryonic placenta development	ISS	--

PKD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PKD1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PKD1

1 HMDB Compound for PKD1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/22 Novoseek chemical compound relationships for PKD1 gene (see all 22) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
trp-p-2	75.2	5	18273441 (1), 19879844 (1), 15971078 (1), 19556541 (1) (see all 5)
penicillin	47.5	23	12051565 (4), 12196546 (1), 12845845 (1), 8769609 (1) (see all 12)
threonine	43.2	9	17077180 (1), 19173301 (1), 19243594 (1), 19258390 (1) (see all 8)
beta-lactam	39.7	3	16303769 (1), 14691653 (1), 2230238 (1)
calcium	33.6	23	18285569 (3), 9326320 (1), 9192675 (1), 18422703 (1) (see all 13)
serine	30.8	13	17077180 (1), 19173301 (1), 15695390 (1), 19243594 (1) (see all 12)
vidarabine	24.3	1	9773786 (1)
rapamycin	22.8	1	18845692 (1)
pkcs	19.9	3	12689594 (2), 15590638 (1)
pneumococcal	13.3	1	20194703 (1)

Search CenterWatch for drugs/clinical trials and news about PKD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PKD1 gene (2 alternative transcripts):

NM_000296.3 NM_001009944.2

Unigene Cluster for PKD1:

Polycystic kidney disease 1 (autosomal dominant)

Hs.75813 [show with all ESTs]

Unigene Representative Sequence: NM_001009944

18/41 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 41):

ENST00000262304(uc002cos.1) ENST00000423118(uc010bse.1 uc002cot.1)

ENST00000472577 ENST00000564313 ENST00000561668 ENST00000487932 ENST00000485120

ENST00000562425 ENST00000567355 ENST00000472659 ENST00000568796 ENST00000570253

ENST00000562297 ENST00000567946 ENST00000486339 ENST00000415938 ENST00000483731

ENST00000565639

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PKD1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PKD1
		8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate PKD1 (see all 33):
		hsa-miR-3194-5p hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-106a hsa-miR-372 hsa-miR-93 hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: PKD1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKD1 (see all 3) OriGene siRNA: PKD1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKD1
		Sirion Biotech Custom design and validation of potent shRNA sequences against PKD1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PKD1 (NM_000296)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKD1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PKD1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD1

Additional cDNA sequence:

AB209025.1 AB209675.1 AK309422.1 L33243.1 U24497.1

21 DOTS entries:

DT.70104277 DT.87077312 DT.91644432 DT.86858932 DT.97760273 DT.100059201 DT.120674876 DT.100892089

DT.120674921 DT.120674969 DT.120674995 DT.120675018 DT.91864894 DT.95283226 DT.100892088 DT.100892094

DT.120705612 DT.120705686 DT.91718243 DT.91733091 DT.92360713

24/33 AceView cDNA sequences (see all 33):

NM_000296 AI140269 BF847876 CR613181 CR590016 L33243 AI660209 CD608089

AA831732 BI825250 U24497 AW192878 CD608091 AI199962 AI188663 AI192483

BF928319 CD608085 BF058936 CD608087 AW090455 AL134818 BF058046 BF081888

GeneLoc Exon Structure

5/26 Alternative Splicing Database (ASD) splice patterns (SP) for PKD1 (see all 26) About this scheme

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	·
SP1:
SP2:
SP3:
SP4:
SP5:

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	^
SP1:
SP2:
SP3:
SP4:																																											-				-
SP5:																																											-				-

ExUns:	34a	·	34b	·	34c	^	35a	·	35b	·	35c	·	35d	^	36a	·	36b	^	37	^	38	^	39a	·	39b	·	39c	^	40a	·	40b	^	41
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for PKD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PKD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCGCTTCTA

About this image

PKD1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone, Cartilage

Bone, Cartilage

Osteochondro Mesenchymal Cells

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PKD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKD1

SOURCE GeneReport for Unigene cluster: Hs.75813

SABiosciences Expression via Pathway-Focused PCR Arrays including PKD1:

Cell Cycle in human mouse rat

Primary Cilia in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PKD1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PKD1 gene from 3/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PKD1¹	polycystic kidney disease 1 (autosomal dominant)	61.53(n) 56.45(a)		416553 XM_414854.3 XP_414854.3
lizard (Anolis carolinensis)	Reptilia	PKD1⁶	--	39(a)	1 ↔ 1	GL344103.1(17270-87505)
zebrafish (Danio rerio)	Actinopterygii	LOC100149562¹	polycystin-1-like	51.5(n) 42.1(a)		100149562 XM_003197739.1 XP_003197787.1

ENSEMBL Gene Tree for PKD1 (if available)
TreeFam Gene Tree for PKD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PKD1 gene

PKD2² NPIPP1² PKDREJ² PKD2L2² PKD2L1² PKD1L1²

2 SIMAP similar genes for PKD1 using alignment to 14 protein entries: PKD1_HUMAN (see all proteins):

NPIP NPIPP1

PKD1 for paralogs About GeneDecksing

5/8 Pseudogenes.org Pseudogenes for PKD1 (see all 8)
PGOHUM00000248733 PGOHUM00000262927 PGOHUM00000259017 PGOHUM00000248747 PGOHUM00000248991

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199476095^1,2	C	pathogenic	2139958(-)	`TTGACC/TGACTC`	5	R *	stg¹ ds500¹		0	--	--	--	--
rs199476102^1,2	C	pathogenic	2140310(-)	`CTCTGA/GATGGG`	5	* W	stg¹ us2k¹		0	--	--	--	--
rs199476097^1,2	C	pathogenic	2140469(-)	`CTGTGA/TGTGGG`	5	* C	stg¹ us2k¹		0	--	--	--	--
rs199476094^1,2	C	pathogenic	2140689(-)	`ACGCCC/TAGCTG`	5	Q *	us2k¹ stg¹		0	--	--	--	--
rs199476096^1,2	C	pathogenic	2141807(-)	`TCCTGC/TAGCTG`	5	Q *	us2k¹ stg¹		0	--	--	--	--
rs199476098^1,2	C	pathogenic	2141862(-)	`GGCTAA/CGTGCA`	5	* Y	us2k¹ stg¹		0	--	--	--	--
rs199476101^1,2	C	pathogenic	2159404(-)	`GCCTGC/TAGGTC`	4	Q *	stg¹		0	--	--	--	--
rs199476100^1,2	C	pathogenic	2164490(-)	`AGCCTC/TGGTGC`	4	S L	mis¹		0	--	--	--	--
rs199476099^1,2	C	pathogenic	2168022(-)	`GCATCG/TCTATG`	4	R L	mis¹		0	--	--	--	--
rs45498900^1,2	C,F	untested	3184622(+)	`CTGACA/C/TCCAGT`	6	--	ut3¹		1		NA	120

HapMap Linkage Disequilibrium report for PKD1 (2138711 - 2185899 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 14 variations for PKD1
14 CNVs: 72421 72422 77159 77160 72423 5329 87939 87938 32073 30000 35365 30734 87937 66915
Human Gene Mutation Database (HGMD): PKD1

Locus Specific Mutation Databases (LSDB): PKD1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD1

DNA2.0 Custom Variant and Variant Library Synthesis for PKD1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PKD1 for disorders           About GeneDecksing

OMIM gene information: 601313
OMIM disorders: 173900
UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161

Defects in PKD1 are the cause of polycystic kidney disease 1 (PKD1) [MIM:173900]. PKD1 is characterized by

progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult

life. Cysts also occurs in the liver and other organs. Its prevalence is estimated at about 1/1000

20/50 diseases for PKD1 (see all 50): About MalaCards

polycystic kidney disease kidney disease polycystic kidney disease 1, autosomal dominant von hippel-lindau disease

polycystic kidney disease, adult type i polycystic kidney disease, autosomal dominant end stage renal failure acrofacial dysostosis

autosomal dominant disease connective tissue disease haemophilus influenzae intracranial aneurysm

polycystic kidney disease 2 marfan syndrome polycystic liver disease cystic kidney

otitis media tuberous sclerosis dysostosis cerebral aneurysms

5 diseases from the University of Copenhagen DISEASES database for PKD1:

Polycystic kidney disease Cystic kidney Kidney failure Polycystic liver disease

Genetic disorder

10/34 Novoseek disease relationships for PKD1 gene (see all 34) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adpkd	98.3	503	12007219 (5), 11773467 (4), 10729710 (4), 12220456 (4) (see all 99)
polycystic kidney diseases	95.5	112	17102641 (2), 8666666 (2), 17715262 (2), 8661056 (2) (see all 90)
renal cyst	89.5	29	19194729 (4), 2215575 (2), 1605247 (1), 1583643 (1) (see all 20)
polycystic kidney type 2 autosomal dominant disease	87.4	1	10023895 (1)
arpkd	85.3	13	11981261 (2), 10200981 (1), 15674734 (1), 12647363 (1) (see all 9)
polycystic kidney type 1 autosomal dominant disease	83.8	1	10364515 (1)
cystic kidney disease	83	10	16207829 (2), 9631851 (1), 16536277 (1), 10362797 (1) (see all 7)
cysts	79.8	89	10504485 (4), 11689485 (3), 19346236 (3), 10835625 (2) (see all 56)
polycystic liver disease	75.7	4	16294159 (1), 19766642 (1)
tuberous sclerosis	70.9	23	9382094 (2), 18598780 (1), 11812941 (1), 17373211 (1) (see all 17)

GeneTests: PKD1

Polycystic Kidney Disease, Autosomal Dominant

Genetic Association Database (GAD): PKD1
Human Genome Epidemiology (HuGE) Navigator: PKD1 (14 documents)

Export disorders for PKD1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PKD1 gene, integrated from 9 sources (see all 511):
(articles sorted by number of sources associating them with PKD1)

Utopia: connect your pdf to the dynamic
world of online information

Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PubMed id 12220456)^{1, 2, 4, 9} Eo H.-S....Kim U.K. (2002)
Thirteen novel mutations of the replicated region of PKD1 in an Asian population. (PubMed id 11012875)^{1, 2, 9} Phakdeekitcharoen B....Germino G.G. (2000)
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. (PubMed id 9199561)^{1, 2, 9} Peral B.... Harris P.C. (1997)
Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. (PubMed id 17980165)^{1, 2, 9} Li X....Wilson P.D. (2008)
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PubMed id 10729710)^{1, 2, 9} Kim U.K.... Lee C.C. (2000)
Mutational analysis within the 3' region of the PKD1 gene. (PubMed id 10200984)^{1, 2, 9} Badenas C.... Darnell A. (1999)
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. (PubMed id 9285784)^{1, 2, 9} Watnick T.J.... Germino G.G. (1997)
Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. (PubMed id 7736581)^{1, 2, 9} Gluecksmann-Kuis M.A.... Frischauf A.-M. (1995)
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (PubMed id 11571556)^{1, 2, 9} Bouba I.... Deltas C.C. (2001)
The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. (PubMed id 9889186)^{1, 2, 9} Bycroft M.... Chothia C. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5310	HGNC: 9008	AceView: PKD1	Ensembl:ENSG00000008710	euGenes: HUgn5310
ECgene: PKD1	H-InvDB: PKD1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PKD1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PKD1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD1
Functional Glycomics Gateway - Glycan Binding	http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_204

Intellectual Property for PKD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PKD1 gene:
Search GeneIP for patents involving PKD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Antibodies for PKD1 (Polycystin-1/PKD1)		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		Browse OriGene shRNA RFPs
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKD1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKD1
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for PKD1		OriGene 3'-UTR Clone for PKD1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKD1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for PKD1		OriGene Custom Protein Services for PKD1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PKD1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKD1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PKD1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKD1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKD1

	GenScript Custom Purified and Recombinant Proteins Services for PKD1		GenScript cDNA clones with any tag delivered in your preferred vector for PKD1
	GenScript Custom Assay Services for PKD1		GenScript Custom Superior Antibodies Services for PKD1
	GenScript Custom overexpressing Cell Line Services for PKD1		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
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in PKD1 promoter
	Search Chromatin IP Primers for PKD1
	RT² qPCR Primer Assay in human, mouse, rat PKD1
	GNC Network for PKD1
	SABiosciences PCR Arrays including human, mouse, rat PKD1

Search Tocris compounds for PKD1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	PKD1 antibodies

	Antibodies for PKD1
	See all of Abcam's Antibodies, Kits and Proteins for PKD1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

PKD1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for PKD1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1

	SwitchGear 3'UTR luciferase reporter plasmids for PKD1
	SwitchGear Promoter luciferase reporter plasmids for PKD1

ThermoFisher Antibodies for PKD1

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PKD1

Sirion Biotech Customized:

	stable knockdown cell line services for PKD1
	inducible knockdown cell line services for PKD1
	design and validation of potent shRNA sequences against PKD1
	adenovirus for potent knockdown of PKD1
	adenovirus for overexpression
	stable overexpressing cell line services
	inducible overexpressing cell line services

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes PKD1 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

PKD1 Gene

polycystic kidney disease 1 (autosomal dominant)

Aliases
for PKD1 gene

Summaries
for PKD1 gene

Genomic Views
for PKD1 gene

Proteins
for PKD1 gene

Protein Domains /
Families
for PKD1 gene

Function
for PKD1 gene

Pathways & Interactions
for PKD1 gene

Drugs & Compounds
for PKD1 gene

Transcripts
for PKD1 gene

Expression
for PKD1 gene

Orthologs
for PKD1 gene

Paralogs
for PKD1 gene

Genomic Variants
for PKD1 gene

Disorders / Diseases
for PKD1 gene

Publications
for PKD1 gene

External Searches for PKD1 gene

Genome Databases showing PKD1 gene

Other Databases showing PKD1 gene

Specialized Databases showing PKD1 gene

Intellectual Property
for PKD1 gene

Products
for PKD1 gene

View Random Gene

Medullary cystic kidney
NPHP1
von Hippel-Lindau Disease
ARPKD
POLYCYSTIC LIVER DISEASE
Cystic Fibrosis
Carolis Disease
Polycystic Kidney Diseases
Intracranial Aneurysm
Systemic Disease
Liver diseases
Breast Cancer
Tuberous Sclerosis
Polycystic Kidney Type 2 Autosomal Dominant Disease
Cancer
Aneurysm
Connective Tissue Diseases
somatic mutations
Polycystic Kidney Disease, Autosomal Dominant
RENAL DISEASE
ADPKD
Germ-Line Mutation
Hamartoma
Cystic kidney disease
Cysts
Polycystic Kidney Type 1 Autosomal Dominant Disease
Renal Failure
prostate cancer
RENAL CYST
Tumors
genetic disorder
Cerebral Aneurysm
Marfan Syndrome
Huntington Disease
Renal Failure Chronic

Advanced Search

Export list of displayed genes

PKD1 Gene

polycystic kidney disease 1 (autosomal dominant)

Aliasesfor PKD1 gene

Summariesfor PKD1 gene

Genomic Viewsfor PKD1 gene

Proteinsfor PKD1 gene

Protein Domains /Familiesfor PKD1 gene

Functionfor PKD1 gene

Pathways & Interactionsfor PKD1 gene

Drugs & Compoundsfor PKD1 gene

Transcriptsfor PKD1 gene

Expression for PKD1 gene

Orthologsfor PKD1 gene

Paralogsfor PKD1 gene

Genomic Variantsfor PKD1 gene

Disorders / Diseasesfor PKD1 gene

Publicationsfor PKD1 gene

External Searches for PKD1 gene

Genome Databases showing PKD1 gene

Other Databases showing PKD1 gene

Specialized Databases showing PKD1 gene

Intellectual Propertyfor PKD1 gene

Productsfor PKD1 gene

View Random Gene

Aliases
for PKD1 gene

Summaries
for PKD1 gene

Genomic Views
for PKD1 gene

Proteins
for PKD1 gene

Protein Domains /
Families
for PKD1 gene

Function
for PKD1 gene

Pathways & Interactions
for PKD1 gene

Drugs & Compounds
for PKD1 gene

Transcripts
for PKD1 gene

Expression
for PKD1 gene

Orthologs
for PKD1 gene

Paralogs
for PKD1 gene

Genomic Variants
for PKD1 gene

Disorders / Diseases
for PKD1 gene

Publications
for PKD1 gene

Intellectual Property
for PKD1 gene

Products
for PKD1 gene