Pkhd1l1 Gene Summary [Rat]

Predicted to act upstream of or within sensory perception of sound. Predicted to be located in stereocilium coat and stereocilium tip. 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
Protein Coding
Official Symbol
Pkhd1l1
Official Name
PKHD1 like 1 [Source:RGD Symbol;Acc:1310406]
Ensembl ID
ENSRNOG00000004398
Bio databases IDs NCBI: 314917 Ensembl: ENSRNOG00000004398
Aliases PKHD1 like 1
Synonyms Ay219182, DFNB124, F430003O07Rik, PKHD1 like 1, PKHDL1, polycystic kidney and hepatic disease 1-like 1
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

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 rat 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.
disease
  • cutaneous melanoma
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • autosomal recessive deafness 124
  • thyroid carcinoma
  • cutaneous melanoma cancer
  • epithelial thyroid cancer
  • Turner syndrome
  • organismal death
  • Klinefelter syndrome
regulated by
  • cisplatin

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 rat 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.