Gene

PKD1

Species
Homo sapiens
Symbol
PKD1
Name
polycystin 1, transient receptor potential channel interacting
Synonyms
  • autosomal dominant polycystic kidney disease 1 protein
  • PBP
Biotype
protein coding gene
Automated Description
Enables several functions, including Wnt receptor activity; protein kinase binding activity; and transmembrane transporter binding activity. Contributes to calcium channel activity. Involved in several processes, including kidney development; mitocytosis; and nervous system development. Acts upstream of or within regulation of proteasomal protein catabolic process. Located in several cellular components, including basolateral plasma membrane; extracellular exosome; and migrasome. Part of calcium channel complex and polycystin complex. Implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1.
RGD 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 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46730
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          PKD1 molecule type
          Interactor gene
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            Genetic Interactions

            PKD1 role
            PKD1 genetic perturbation
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