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Protein Coding Gene : Pkd1 polycystin 1, transient receptor potential channel interacting

Primary Identifier  MGI:97603 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  18763
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables calcium channel activity and transcription regulator inhibitor activity. Involved in several processes, including cell surface receptor signaling pathway via JAK-STAT; placenta blood vessel development; and protein export from nucleus. Acts upstream of or within several processes, including cartilage condensation; circulatory system development; and regulation of mitotic spindle organization. Located in several cellular components, including Golgi apparatus; cell surface; and motile cilium. Part of polycystin complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and respiratory system. Used to study autosomal recessive polycystic kidney disease; hypertrophic cardiomyopathy; and polycystic kidney disease 1. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting).
PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [provided by MGI curators]
  • synonyms:
  • polycystin 1, transient receptor potential channel interacting,
  • PC1,
  • Pkd1,
  • polycystin-1,
  • PC-1,
  • MGD-MRK-13335

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5 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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Genes --> Homologs

Interactions

4 Pathways

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Gene --> Protein-Protein Interactions

Expression

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Disease

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