PKD1, Official Symbol PKD1provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interactingprovided by HGNC Primary source HGNC:HGNC:9008 See related Ensembl:ENSG00000008710 MIM:601313; AllianceGenome:HGNC:9008 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PBP; PC1; Pc-1; TRPP1 Summary This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in endometrium (RPKM 11.1), fat (RPKM 9.6) and 25 other tissues See more Orthologs mouse all