Pkd1 Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pkd1 |
| Official Name | polycystin 1, transient receptor poteintial channel interacting [Source:MGI Symbol;Acc:MGI:97603] |
| Ensembl ID | ENSMUSG00000032855 |
| Bio databases IDs | |
| Aliases | polycystin 1, transient receptor poteintial channel interacting |
| Synonyms | eliosin, LOC112268324, mFLJ00285, PBP, PC1, Polycystin 1 precursor, polycystin 1, transient receptor potential channel interacting, TRPP1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pkd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Leucine-rich repeats, outliers
- protein serine/threonine kinase
- Wnt receptor
- Leucine rich repeat
- coiled-coil domain
- Leucine Rich repeats (2 copies)
- ion channel
- YSPTSPS repeat
- cytoplasmic domain
- Polycystin domain
- PLAT
- Cadherin repeat-like domain
- ion channel binding
- extracellular loop
- tail domain
- membrane-proximal domain
- polycystin cation channel protein
- G-protein binding domain
- Polycystin cation channel
- Polycystin2 binding domain
- extracellular domain
- Leucine-rich repeats, typical (most populated) subfamily
- WSC domain
- PKD domain
- present in yeast cell wall integrity and stress response component proteins
- protein kinase binding
- C-type lectin (CTL)/C-type lectin-like (CTLD) domain
- calcium channel
- Leucine rich repeat C-terminal domain
- protein domain specific binding
- protein binding
- Lipoxygenase homology 2 (beta barrel) domain
- PEST domain
- REJ domain
- transmembrane domain
- GPCR proteolysis site, GPS, motif
- cytosolic tail domain
- Leucine rich repeat N-terminal domain
- Repeats in polycystic kidney disease 1 (PKD1) and other proteins
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic kidney disease
- autosomal dominant polycystic kidney disease type 1
- autosomal dominant polycystic kidney disease
- hereditary disorder
- autosomal recessive polycystic kidney disease
- endometriosis
- polycystic kidney disease
- cystic kidney disease
- hydrocephalus
- polyhydramnios
role in cell
- activation in
- expression in
- growth
- phosphorylation in
- apoptosis
- mitosis
- proliferation
- migration
- differentiation
- inhibition in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- endoplasmic reticulum fraction
- Golgi-enriched fraction
- membrane fraction
- insoluble fractions
- motile cilia
- intracellular membrane-bounded organelle
- Cytoplasm
- cilia
- cell surface
- intracellular space
- cellular membrane
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- axonemes
- stereocilia
- primary cilia
- lateral cell surfaces
- apical membrane
- ciliary rootlet
- basolateral membrane
- lateral plasma membrane
- Golgi membrane
- lateral cell-cell contacts
- microvilli
- perikaryon
- exosomes
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pkd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- regulation of proteasomal protein catabolic process
- anatomical structure morphogenesis
- lung epithelium development
- branching morphogenesis of a tube
- homophilic cell adhesion
- positive regulation of transcription from RNA polymerase II promoter
- protein heterotetramerization
- skin development
- embryonic placenta development
- spinal cord development
- JAK-STAT cascade
- mesonephric tubule development
- heart development
- cartilage condensation
- kidney development
- digestive tract development
- in utero embryonic development
- liver development
- metanephric distal tubule morphogenesis
- calcium ion transport
- calcium ion transmembrane transport
- metanephric collecting duct development
- Wnt receptor signaling pathway
- regulation of cell cycle
- response to fluid shear stress
- cell-matrix adhesion
- calcium-independent cell-matrix adhesion
- placenta blood vessel development
- genitalia development
- cell surface receptor signaling pathway
- establishment of epithelial cell polarity
- protein export from nucleus
- regulation of mitotic spindle organization
- elevation of cytosolic calcium ion concentration
- detection of mechanical stimulus
- mesonephric duct development
- metanephric proximal tubule development
- regulation of G1/S transition of mitotic cell cycle
- regulation of cell adhesion
- peptidyl-serine phosphorylation
- cartilage development
- metanephric ascending thin limb development
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- Golgi membrane
- Golgi apparatus
- endoplasmic reticulum
- polycystin complex
- plasma membrane
- cell surface
- nucleus
- motile cilium
- calcium channel complex
- extracellular vesicular exosome
- cytoplasm
- membrane
- Golgi-associated vesicle membrane
- cilium
- cilium membrane
- cation channel complex
- basolateral plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein domain specific binding
- Wnt-activated receptor activity
- protein binding
- calcium channel activity
- cation channel activity
- carbohydrate binding
- ion channel binding