Pkhd1 Gene Summary [Mouse]
Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of epithelial cell apoptotic process; and regulation of establishment of planar polarity. Acts upstream of with a positive effect on branching morphogenesis of an epithelial tube and cell-cell junction organization. Acts upstream of or within cilium assembly and kidney development. Located in several cellular components, including 9+0 non-motile cilium; apical plasma membrane; and extracellular exosome. Is expressed in several structures, including adrenal cortex; gut; mesonephric tubule; metanephros; and ureteric bud. Used to study Caroli syndrome; autosomal recessive polycystic kidney disease; and polycystic kidney disease 4. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pkhd1 |
| Official Name | polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808] |
| Ensembl ID | ENSMUSG00000043760 |
| Bio databases IDs | |
| Aliases | polycystic kidney and hepatic disease 1 |
| Synonyms | AABR07067023.1, ARPKD, FCYT, FPC, PCYT, PKD4, PKHD, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, polycystic kidney and hepatic disease 1, TIGM1 |
| 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 Pkhd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Right handed beta helix region
- G8 domain
- IPT
- IPT/TIG domain
- Periplasmic copper-binding protein (NosD)
- membrane attachment signal
- ciliary-targeting sequence domain
- intracellular domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- non-insulin-dependent diabetes mellitus
- polycystic kidney disease 4 with or without liver disease
- autosomal recessive polycystic kidney disease
- autosomal dominant polycystic liver disease
- restless legs syndrome
- fibrosis
- prostate cancer
- acute myeloid leukemia
- prostatic carcinoma
role in cell
- apoptosis
- proliferation
- expression in
- quantity
- ultrastructure
- formation
- loss
- morphology
- organization
- budding
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
- non-motile cilium
- Cytoplasm
- cilia
- perinuclear region
- cellular membrane
- basal bodies
- centrosome
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- apical cell surfaces
- plasma membrane extracellular face
- apical membrane
- basolateral membrane
- mitotic spindle
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pkhd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- negative regulation of NF-kappaB transcription factor activity
- regulation of cell-cell adhesion
- positive regulation of cell proliferation
- regulation of establishment of planar polarity
- epithelial cell morphogenesis
- branching morphogenesis of a tube
- cell-cell junction organization
- cellular calcium ion homeostasis
- regulation of ERK1 and ERK2 cascade
- establishment of mitotic spindle orientation
- regulation of cell-matrix adhesion
- establishment of centrosome localization
- regulation of centrosome duplication
- kidney development
- negative regulation of apoptotic process
- homeostatic process
- regulation of cell adhesion
- positive regulation of epithelial cell proliferation
- regulation of TOR signaling cascade
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- cilium basal body
- external side of plasma membrane
- endoplasmic reticulum
- Golgi apparatus
- chromosome, centromeric region
- nucleus
- centrosome
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- mitotic spindle
- cytoplasm
- cilium
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- signaling receptor activity