PKD1

From Wikipedia, the free encyclopedia

Polycystic kidney disease 1 (autosomal dominant)

PDB rendering based on 1b4r.

Available structures

Ortholog search: PDBe, RCSB

List of PDB id codes
1B4R

Identifiers

Symbols

PKD1; PBP; Pc-1; TRPP1

External IDs

OMIM: 601313 MGI: 97603 HomoloGene: 250 ChEMBL: 5772 GeneCards: PKD1 Gene

Gene Ontology
Molecular function	• cation channel activity • calcium channel activity • protein binding • protein kinase binding • protein domain specific binding • carbohydrate binding • ion channel binding
Cellular component	• polycystin complex • nucleus • cytoplasm • integral to plasma membrane • cilium • integral to membrane • basolateral plasma membrane • motile primary cilium
Biological process	• in utero embryonic development • kidney development • embryonic placenta development • protein export from nucleus • 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 • peptidyl-serine phosphorylation • spinal cord development • neural tube development • positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S • positive regulation of protein binding • cytoplasmic sequestering of transcription factor • skin development • positive regulation of transcription from RNA polymerase II promoter • digestive tract development • branching morphogenesis of an epithelial tube • genitalia development • detection of mechanical stimulus • cartilage development • lung epithelium development • placenta blood vessel development • calcium ion transmembrane transport • mesonephric tubule development • mesonephric duct development • metanephric collecting duct development • metanephric ascending thin limb development • metanephric proximal tubule development • metanephric distal tubule morphogenesis
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 16:
2.14 – 2.19 Mb

Chr 17:
24.55 – 24.6 Mb

PubMed search

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

Gene product

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^[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 (June 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. Cite uses deprecated parameters (help)
↑ Tsiokas, L; Arnould T, Zhu C, Kim E, Walz G, Sukhatme V P (March 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. Cite uses deprecated parameters (help)
↑ 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. Cite uses deprecated parameters (help)
↑ "Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)".

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. p. 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

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	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⁺: 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
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), other

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

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