Pkhd1l1 Gene Summary [Mouse]
Acts upstream of or within sensory perception of sound. Located in stereocilium coat and stereocilium tip. Is expressed in central nervous system and genitourinary system. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human PKHD1L1 (PKHD1 like 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Pkhd1l1 |
| Official Name | polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153] |
| Ensembl ID | ENSMUSG00000038725 |
| Bio databases IDs | |
| Aliases | polycystic kidney and hepatic disease 1-like 1 |
| Synonyms | Ay219182, DFNB124, F430003O07Rik, PKHD1 like 1, PKHDL1, polycystic kidney and hepatic disease 1-like 1 |
| 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 Pkhd1l1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Right handed beta helix region
- G8 domain
- Cupredoxin superfamily
- IPT
- PA14 domain
- IPT/TIG domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cytosol
- stereocilia
- glycocalyx
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pkhd1l1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- immune response
Cellular Component
Where in the cell the gene product is active
- extracellular space
- membrane
- cytosol
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- signaling receptor activity