QuickView for PKD1;jsessionid=5005F0686BFEB66C79B9E8CA41AACED8 (gene)

Gene Symbol:

PKD1 Homo sapiens

Full name:

polycystin 1, transient receptor potential channel interacting

Synonyms:

PBP, PC1, Pc-1, TRPP1, polycystin-1, autosomal dominant polycystic kidney disease 1 protein, polycystic kidney disease 1 (autosomal dominant), polycystic kidney disease-associated protein, transient receptor potential cation channel, subfamily P, member 1

Genomic Location:

Chr 16: 2078712-2125900

Description:

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 invo...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Bos taurus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

EGR2_01 ,  GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D ,  RNGTGGGC_UNKNOWN ,  CAGTATT_MIR200B_MIR200C_MIR429

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-20 ,  Predicted Gene Targets for miR-200b

Cytogenetic Map:

16p13.3

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