PKHD1L1 Gene - Fibrocystin-Like Protein
PKHD1L1 (Polycystic Kidney and Hepatic Disease 1-Like 1) is a gene encoding a large, single-pass transmembrane protein involved in ciliary function and cell adhesion.
Gene Information Card
| Symbol | PKHD1L1 |
|---|---|
| Full Name | Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 93035 ncbi.nlm.nih.gov/gene/93035 |
| Ensembl ID | ENSG00000165030 |
| UniProt ID | Q86YJ6 |
| OMIM ID | 611407 |
| HGNC ID | 25968 |
| Aliases | FLJ20366, MGC138290, dJ1181N3.1 |
Description
PKHD1L1 encodes a large transmembrane protein similar to fibrocystin, which is implicated in autosomal recessive polycystic kidney disease. The protein is localized to cilia and plays a role in ciliary function, cell adhesion, and planar cell polarity. It is expressed in kidney, liver, and pancreas, and mutations may contribute to ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polycystic Kidney Disease (Autosomal Recessive) | Loss of fibrocystin-like function disrupts ciliary signaling and tubular morphogenesis | OMIM #611407; limited direct evidence, homology to PKHD1 |
| Ciliopathies | Defective ciliary protein leads to impaired cell polarity and cyst formation | Inferred from functional studies and expression patterns |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 3.2 | Low |
| Liver | 1.8 | Low |
| Pancreas | 2.1 | Low |
| Testis | 4.5 | Medium |
| Lung | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Moderate expression |
| HepG2 | 1.2 | Low expression |
| ARPE-19 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.4567G>A (p.Gly1523Arg) | Missense | <0.01% | Unknown effect; predicted damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein are predicted to cause loss of function, potentially contributing to ciliary dysfunction.
Gain of Function (GOF)
No evidence of gain-of-function mutations for PKHD1L1.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • cilium (GO:0005929) | • cell adhesion (GO:0007155) |
| • cell projection organization (GO:0030030) |
Pathways
• Ciliary signaling pathway (Reactome: R-HSA-5620912)
• Planar cell polarity pathway (KEGG: hsa04390)
Protein Summary
The PKHD1L1 protein is a 4,074-amino acid single-pass type I transmembrane protein with multiple immunoglobulin-like domains and a fibronectin type III domain. It localizes to primary cilia and is involved in cell adhesion and ciliary signaling. Its structure resembles fibrocystin, suggesting a role in tubular morphogenesis and epithelial integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKHD1L1 Knockout HEK293 Cell Line | EDJ-KQ11150 | Human | 93035 | Details Get a Quote |
| PKHD1L1 Knockout HeLa Cell Line | EDJ-KQ57853 | Human | 93035 | Details Get a Quote |
| PKHD1L1 Knockout A-549 Cell Line | EDJ-KQ66350 | Human | 93035 | Details Get a Quote |
| PKHD1L1 Knockout HCT 116 Cell Line | EDJ-KQ74773 | Human | 93035 | Details Get a Quote |
