regulation of proteasomal protein catabolic process
mesonephric tubule development
renal system development
receptor signaling pathway via JAK-STAT
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
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 by RNA polymerase II
skin development
homophilic cell adhesion via plasma membrane adhesion molecules
cell-cell adhesion
Sources:Amigo / QuickGO
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 NP_001009944
NP_038658
Location (UCSC)
Chr 16: 2.09 – 2.14 Mb
Chr 17: 24.55 – 24.6 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene.[5][6] Mutations of PKD1 are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction.[7]
^ abcGRCh38: Ensembl release 89: ENSG00000008710 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000032855 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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". Nature Genetics. 10 (2): 151–60. doi:10.1038/ng0695-151. PMID 7663510. S2CID 20636101.
^"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. S2CID 11114706.
Polycystin1 (PC1) is a protein that in humans is encoded by the PKD1 gene. Mutations of PKD1 are associated with most cases of autosomal dominant polycystic...
Polycystin refers to one of the following proteins: Polycystin-1 (PKD1) Polycystin-2 (PKD2) Polycystine This disambiguation page lists articles associated...
Polycystin-2 (PC2) is a protein that in humans is encoded by the PKD2 gene. The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein...
The Polycystin Cation Channel (PCC) Family (TC# 1.A.5) consists of several transporters ranging in size from 500 to over 4000 amino acyl residues (aas)...
formation are tied to abnormal cilia-mediated signaling. The polycystin-1 and polycystin-2 proteins appear to be involved in both autosomal dominant and...
domain was first identified in the polycystic kidney disease protein, polycystin-1 (PKD1 gene), and contains an Ig-like fold consisting of a beta-sandwich...
intercalated cells) show the presence of a single primary apical cilium. Polycystin-1, the protein encoded by the PKD1 gene, is present on these cilia and...
Proprotein convertase 1, an enzyme Polycystin1, a protein in humans associated with autosomal dominant polycystic kidney disease PC-1, a submarine telecommunications...
Polycystin1 like 1, transient receptor potential channel interacting is a protein that in humans is encoded by the PKD1L1 gene. This gene encodes a member...
novel/rare variations. Mutations in the PKD1 and PKD2 genes which encode for polycystin-1 and polycistin-2 respectively are known to be causes of ADPKD, a ciliopathy...
variety of membrane or lipid associated proteins. It is called the PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology) domain...
signal and GTPase complex are required for the ciliary transport of polycystin-1". Molecular Biology of the Cell. 22 (18): 3289–3305. doi:10.1091/mbc...
Exosomal polycystin-1-interacting protein is a protein that, in humans, is encoded by the EPCIP gene. EPCIP is found on human chromosome 21, and it is...
primary cilium via a rapamycin-insensitive and polycystin1-independent pathway". Human Molecular Genetics. 18 (1): 151–63. doi:10.1093/hmg/ddn325. PMC 2644647...
signal and GTPase complex are required for the ciliary transport of polycystin-1". Molecular Biology of the Cell. 22 (18): 3298. doi:10.1091/mbc.e11-01-0082...
Receptor Proteolysis Site Cleavage of Polycystin-1 in Renal Physiology and Polycystic Kidney Disease". Cells. 5 (1): 3. doi:10.3390/cells5010003. ISSN 2073-4409...
that in humans is encoded by the PKD2L1 gene. TRPP2 is a member of the polycystin protein family. TRPP2 contains multiple transmembrane domains, and cytoplasmic...
calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation". FEBS Lett. 516 (1–3): 270–8. doi:10.1016/S0014-5793(02)02513-9...
hdl:1765/56571. PMID 10931041. S2CID 3083613. Wilson PD (April 2001). "Polycystin: new aspects of structure, function, and regulation" (PDF). Journal of...
JL, Iatrino R, Su X, Koon SJ, et al. (October 2013). "Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients...
reduction in portal pressure and a decreased risk of variceal bleeding. Polycystin defects increase intracellular cAMP, secondary messenger for vasopressin...
cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular...
Global Information
