Polycystin 1

PKD1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1B4R
Identifiers
Aliases	PKD1, PBP, Pc-1, TRPP1, polycystin 1, transient receptor potential channel interacting
External IDs	OMIM: 601313 MGI: 97603 HomoloGene: 250 GeneCards: PKD1
Gene ontology
Molecular function	• ion channel binding; • protein domain specific binding; • calcium channel activity; • protein binding; • protein kinase binding; • carbohydrate binding;
Cellular component	• cytoplasm; • integral component of membrane; • Golgi apparatus; • cell projection; • lateral plasma membrane; • membrane; • motile primary cilium; • Golgi membrane; • plasma membrane; • integral component of plasma membrane; • cilium; • cell surface; • basolateral plasma membrane; • ciliary membrane; • Golgi-associated vesicle membrane; • primary cilium; • extracellular exosome; • nucleus; • polycystin complex;
Biological process	• calcium-independent cell-matrix adhesion; • calcium ion transport; • regulation of proteasomal protein catabolic process; • single organismal cell-cell adhesion; • mesonephric tubule development; • renal system development; • JAK-STAT cascade; • positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle; • metanephric distal tubule morphogenesis; • regulation of mitotic spindle organization; • mesonephric duct development; • kidney development; • cytoplasmic sequestering of transcription factor; • positive regulation of cytosolic calcium ion concentration; • anatomical structure morphogenesis; • placenta blood vessel development; • embryonic placenta development; • in utero embryonic development; • response to fluid shear stress; • genitalia development; • metanephric ascending thin limb development; • metanephric proximal tubule development; • heart development; • cartilage development; • regulation of cell adhesion; • nitrogen compound metabolic process; • blood vessel development; • calcium ion transmembrane transport; • peptidyl-serine phosphorylation; • lymph vessel morphogenesis; • cell cycle arrest; • neural tube development; • protein export from nucleus; • detection of mechanical stimulus; • establishment of cell polarity; • spinal cord development; • metanephric collecting duct development; • liver development; • positive regulation of protein binding; • digestive tract development; • cell-matrix adhesion; • lung epithelium development; • branching morphogenesis of an epithelial tube; • cartilage condensation; • positive regulation of transcription from RNA polymerase II promoter; • skin development; • homophilic cell adhesion via plasma membrane adhesion molecules;
	Sources:Amigo / QuickGO
RNA expression pattern
	; ; ; ;
	More reference expression data
Orthologs
	5310
	18763
	ENSG00000008710
	ENSMUSG00000032855
	P98161
	O08852
	NM_000296; NM_001009944
	NM_013630
	NP_000287.3; NP_001009944.2
	NP_038658.2
	Wikidata
View/Edit Human	View/Edit Mouse

Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.^[3]^[4]

Gene[edit]

Splice variants encoding different isoforms have been noted for PKD1. The gene is closely linked to six pseudogenes in a known duplicated region on chromosome 16p.^[5]

Illustration of PKD1 and PKD2 proteins at the cell membrane

Function[edit]

Polycystin-1 is a glycoprotein which contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease.

Interactions[edit]

Polycystin-1 has been shown to interact with polycystin-2^[6]^[7] and RGS7.^[8]

References[edit]

^ "Human PubMed Reference:".
^ "Mouse PubMed Reference:".
^ Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, Harris PC (June 1995). "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains". Nat. Genet. 10 (2): 151–160. doi:10.1038/ng0695-151. PMID 7663510.
^ "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium". Cell. 81 (2): 289–98. April 1995. doi:10.1016/0092-8674(95)90339-9. PMID 7736581.
^ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)".
^ Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. 94 (13): 6965–6970. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.
^ Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–3939. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.
^ Kim E, Arnould T, Sellin L, Benzing T, Comella N, Kocher O, Tsiokas L, Sukhatme VP, Walz G (May 1999). "Interaction between RGS7 and polycystin". Proc. Natl. Acad. Sci. U.S.A. 96 (11): 6371–6376. doi:10.1073/pnas.96.11.6371. PMC 26888. PMID 10339594.

External links[edit]

GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[1] "Human PubMed Reference:".

[2] "Mouse PubMed Reference:".

[pmid7663510-3] Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V, Harris PC (June 1995). "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains". Nat. Genet. 10 (2): 151–160. doi:10.1038/ng0695-151. PMID 7663510.

[pmid7736581-4] "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium". Cell. 81 (2): 289–98. April 1995. doi:10.1016/0092-8674(95)90339-9. PMID 7736581.

[5] "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)".

[pmid9192675-6] Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G (June 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. 94 (13): 6965–6970. doi:10.1073/pnas.94.13.6965. PMC 21268. PMID 9192675.

[pmid10097141-7] Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP (March 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. 96 (7): 3934–3939. doi:10.1073/pnas.96.7.3934. PMC 22398. PMID 10097141.

[pmid10339594-8] Kim E, Arnould T, Sellin L, Benzing T, Comella N, Kocher O, Tsiokas L, Sukhatme VP, Walz G (May 1999). "Interaction between RGS7 and polycystin". Proc. Natl. Acad. Sci. U.S.A. 96 (11): 6371–6376. doi:10.1073/pnas.96.11.6371. PMC 26888. PMID 10339594.

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v t e Ciliary proteins

Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L

Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1

Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67

Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1

Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B

Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3

see also: ciliopathy

Polycystin 1

Contents

Gene[edit]

Function[edit]

Interactions[edit]

See also[edit]

References[edit]

Further reading[edit]

External links[edit]

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