Entrez Summary: This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008].
UniProt Summary: Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. {ECO:0000269|PubMed:24336289}.
Pfam DomainsGO Terms
Pfam Domains
PLAT
REJ
PKD
PKD channel
GO Terms
detection of nodal flow
detection of endogenous stimulus
left/right axis specification
left/right pattern formation
calcium channel complex
non-motile cilium
detection of mechanical stimulus
calcium channel activity
ciliary membrane
axis specification
determination of left/right symmetry
detection of external stimulus
detection of abiotic stimulus
determination of bilateral symmetry
specification of symmetry
calcium ion transmembrane transport
cilium
response to mechanical stimulus
calcium ion transport
divalent metal ion transport
divalent inorganic cation transport
regionalization
pattern specification process
cell-cell adhesion
inorganic cation transmembrane transport
cation transmembrane transport
metal ion transport
inorganic ion transmembrane transport
detection of stimulus
cation transport
cell adhesion
biological adhesion
ion transmembrane transport
response to abiotic stimulus
transmembrane transport
ion transport
response to endogenous stimulus
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)