PKD1

Polycystic kidney disease 1 (autosomal dominant)

PDB rendering based on 1b4r.

Available structures
PDB	1b4r

Identifiers

Symbols

PKD1; PBP; Pc-1; TRPP1

External IDs

OMIM: 601313 MGI: 97603 HomoloGene: 250 GeneCards: PKD1 Gene

Gene Ontology
Molecular function	• cation channel activity • protein binding • sugar binding • protein domain specific binding
Cellular component	• polycystin complex • nucleus • plasma membrane • integral to plasma membrane • cilium • basolateral plasma membrane • motile primary cilium
Biological process	• cartilage condensation • blood vessel development • in utero embryonic development • calcium ion transport • cell cycle arrest • homophilic cell adhesion • cell-matrix adhesion • calcium-independent cell-matrix adhesion • neuropeptide signaling pathway • JAK-STAT cascade • heart development • anatomical structure morphogenesis • detection of mechanical stimulus
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

n/a

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 16:
2.14 – 2.19 Mb

Chr 17:
24.69 – 24.73 Mb

PubMed search

[1]

[2]

Polycystin-1 is a protein that in humans is encoded by the PKD1 gene.^[1]^[2]

1 Gene product
- 1.1 Function
- 1.2 Interactions
2 Gene
3 See also
4 References
5 External links
6 Further reading

Gene product

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^[3]^[4] and RGS7.^[5]

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.^[6]

References

^ 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.
^ Tsiokas, L; Kim E, Arnould T, Sukhatme V P, Walz G (Jun. 1997). "Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 94 (13): 6965–6970. doi:10.1073/pnas.94.13.6965. ISSN 0027-8424. PMC 21268. PMID 9192675. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=21268.
^ Tsiokas, L; Arnould T, Zhu C, Kim E, Walz G, Sukhatme V P (Mar. 1999). "Specific association of the gene product of PKD2 with the TRPC1 channel". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (7): 3934–3939. doi:10.1073/pnas.96.7.3934. ISSN 0027-8424. PMC 22398. PMID 10097141. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22398.
^ Kim, E; Arnould T, Sellin L, Benzing T, Comella N, Kocher O, Tsiokas L, Sukhatme V P, Walz G (May. 1999). "Interaction between RGS7 and polycystin". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (11): 6371–6376. doi:10.1073/pnas.96.11.6371. ISSN 0027-8424. PMC 26888. PMID 10339594. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=26888.
^ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5310.

External links

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

Islam, Md. Shahidul (January 2011). Transient Receptor Potential Channels. Advances in Experimental Medicine and Biology. 704. Berlin: Springer. pp. 700. ISBN 978-94-007-0264-6.
Wilson PD (2001). "Polycystin: new aspects of structure, function, and regulation". J. Am. Soc. Nephrol. 12 (4): 834–45. PMID 11274246.
Boletta A, Germino GG (2004). "Role of polycystins in renal tubulogenesis". Trends Cell Biol. 13 (9): 484–492. doi:10.1016/S0962-8924(03)00169-7. PMID 12946628.
Everson GT, Taylor MR, Doctor RB (2004). "Polycystic disease of the liver". Hepatology 40 (4): 774–782. doi:10.1002/hep.20431. PMID 15382167.
Weimbs T (2007). "Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?". Cell Cycle 5 (21): 2425–2429. doi:10.4161/cc.5.21.3408. PMID 17102641.

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

PDB gallery

1b4r: PKD DOMAIN 1 FROM HUMAN POLYCYSTEIN-1

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

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)

Ligand-gated	Inositol trisphosphate receptor (1, 2, 3) · Ryanodine receptor (1, 2, 3)

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

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

Calcium-activated	BK channel (α1, β1, β2, β3, β4) · SK channel (SK1, SK2, SK3, SK4) · 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)

Other

Cl^-: Chloride channel	ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B)

H⁺: Voltage-gated	HVCN1

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)

Cyclic nucleotide-gated (FC)	α (1, 2, 3, 4) · β (1, 2, 3) · HCN (1, 2, 3, 4)

Porin	Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family

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

General	Ligand-gated ion channel · Voltage-gated ion channel · Stretch-activated ion channel

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

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 B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)