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) Band 16p13.3 Start 2,088,710 bp End 2,135,898 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band n/a Start 24,549,950 bp End 24,596,514 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • ion channel 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 • 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 • single organismal cell-cell adhesion • mesonephric tubule development • renal system development • JAK-STAT cascade • positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle • 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 • cell cycle arrest • 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 from RNA polymerase II promoter • skin development • homophilic cell adhesion via plasma membrane adhesion molecules 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 16: 24.55 – 24.6 Mb
PubMed search

1B4R

5310

18763

ENSG00000008710

ENSMUSG00000032855

P98161

O08852

NM_000296
NM_001009944

NM_013630

NP_000287
NP_001009944

NP_038658

Polycystin-1 is a protein that in humans is encoded by the PKD1 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.

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.

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