PKD1L1 Gene - Polycystin 1 Like 1
A key gene in ciliary function and laterality disorders
Gene Information Card
| Symbol | PKD1L1 |
|---|---|
| Full Name | Polycystin 1 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p12.3 |
| NCBI Gene ID | 340061 ncbi.nlm.nih.gov/gene/340061 |
| Ensembl ID | ENSG00000158636 |
| UniProt ID | Q86YD3 |
| OMIM ID | 609721 |
| HGNC ID | 21710 |
| Aliases | PKD1L, PKD1L1, FLJ10718 |
Description
PKD1L1 (Polycystin 1 Like 1) is a protein-coding gene that encodes a member of the polycystin protein family. This protein is involved in ciliary function and is essential for the establishment of left-right asymmetry during embryonic development. Mutations in PKD1L1 are associated with heterotaxy and primary ciliary dyskinesia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heterotaxy | Disruption of left-right body axis determination due to defective ciliary signaling | Multiple reports in ClinVar and literature (e.g., Vetrini et al., 2016) |
| Primary Ciliary Dyskinesia (PCD) | Impaired ciliary motility and function leading to respiratory and laterality defects | ClinVar pathogenic variants; OMIM #609721 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Kidney | 3.1 | Low |
| Lung | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| HeLa | 0.5 | Low expression |
| HepG2 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
| c.2345G>A (p.Arg782His) | Missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic variants are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations reported for PKD1L1.
Dominant Negative (DN)
No dominant-negative mutations reported for PKD1L1.
View complete mutation data：
Gene Ontology (GO)
| • ciliary membrane | • motile cilium |
| • left-right axis specification | • calcium ion binding |
| • cell-cell signaling |
Pathways
• Ciliopathy
• Hedgehog signaling
• Left-right axis determination
Protein Summary
The PKD1L1 protein is a large transmembrane protein localized to the ciliary membrane. It contains multiple domains including a G-protein-coupled receptor proteolytic site (GPS) and a polycystin-1/lipoxygenase/alpha-toxin (PLAT) domain. It is thought to function as a mechanosensor or receptor in primary cilia, mediating calcium signaling and regulating left-right patterning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKD1L1 Knockout HEK293 Cell Line | EDJ-KQ12114 | Human | 168507 | Details Get a Quote |
| PKD1L1 Knockout HeLa Cell Line | EDJ-KQ58916 | Human | 168507 | Details Get a Quote |
| PKD1L1 Knockout A-549 Cell Line | EDJ-KQ67404 | Human | 168507 | Details Get a Quote |
| PKD1L1 Knockout HCT 116 Cell Line | EDJ-KQ75798 | Human | 168507 | Details Get a Quote |
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