PKD1L1

Chr 7p12.3

polycystin 1 like 1, transient receptor potential channel interacting

Aliases:: PRO19563
MANE:: ENST00000289672.7

OMIM: 609721 ↗NCBI: 168507 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PKD1L1 · Q8TDX9-2isoform

No predicted structure exists for the canonical Q8TDX9 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for PKD1L1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.4/ 100

Low

2,573 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)42%
Low(50–70)21%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Heterotaxia
0.76
visceral heterotaxy
0.62
Situs inversus totalis
0.53
situs inversus
0.44
hereditary disease
0.34
Heterotaxy
0.26
toxic encephalopathy
0.25
idiopathic pulmonary fibrosis
0.25
IgA glomerulonephritis
0.24
ovarian neoplasm
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polycystin-1-like protein 1

Component of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289). The PKD1L1:PKD2L1 channel complex is mechanosensitive only at high pressures and is highly temperature sensitive (PubMed:24336289). Also involved in left/right axis specification downstream of nodal flow by forming a complex with PKD2 in cilia to facilitate flow detection in left/right patterning (By similarity). May function as a G protein-coupled receptor (PubMed:15203210)