Polycystin 1

PKD1

Available structures

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

Species

Human

Mouse

Entrez


5310


18763

Ensembl


ENSG00000008710


ENSMUSG00000032855

UniProt


P98161


O08852

RefSeq (mRNA)


NM_000296 NM_001009944


NM_013630

RefSeq (protein)


NP_000287.3 NP_001009944.2


NP_038658.2

Location (UCSC)

Chr 16: 2.09 – 2.14 Mb

Chr 17: 24.55 – 24.6 Mb

PubMed search

^[1]

^[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

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

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

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

References

↑ "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

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

PDB gallery

1b4r: PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3

Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ

Proton-gated	Amiloride-sensitive cation channel 1 2 3 4

Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1

Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1

Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18

Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker gene

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B

H⁺: Proton channel	HVCN1

M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4

M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6

H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family

Cytoplasm: Gap junction	Connexin: A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4) Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

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

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

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