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
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
	anterior pituitary; ; gastric mucosa; ; ascending aorta; ; right coronary artery; ; popliteal artery; ; left uterine tube; ; left coronary artery; ; canal of the cervix; ; right uterine tube; ; tibial nerve;
	Top expressed in
	cerebellar cortex; ; hypothalamus; ; superior frontal gyrus; ; islet of Langerhans; ; uterus; ; olfactory bulb; ; lip; ; esophagus; ; ovary; ; urinary bladder;
	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.

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