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, PC1
External IDs	OMIM: 601313; MGI: 97603; HomoloGene: 250; GeneCards: PKD1; OMA:PKD1 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	2,135,898 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	24,596,508 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; anterior pituitary; ; right frontal lobe; ; gastric mucosa; ; ascending aorta; ; Descending thoracic aorta; ; muscle layer of sigmoid colon; ; body of uterus; ; right coronary artery; ; popliteal artery;
	Top expressed in
	cerebellar cortex; ; layer of retina; ; neural layer of retina; ; primary visual cortex; ; Hypothalamus; ; superior frontal gyrus; ; islet of Langerhans; ; uterus; ; olfactory bulb; ; striatum of neuraxis;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	transmembrane transporter 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; Golgi membrane; plasma membrane; integral component of plasma membrane; cilium; cell surface; basolateral plasma membrane; ciliary membrane; Golgi-associated vesicle membrane; extracellular exosome; nucleus; polycystin complex; motile cilium;
Biological process	calcium-independent cell-matrix adhesion; calcium ion transport; 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
	5310
	18763
	ENSG00000008710
	ENSMUSG00000032855
	P98161
	O08852
	NM_000296; NM_001009944
	NM_013630
	NP_000287; NP_001009944
	NP_038658
	Wikidata
View/Edit Human	View/Edit Mouse

Polycystin 1 (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 kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction.