InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PKD2L1

Summary

InnateDB Protein

IDBP-86422.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKD2L1

Protein Name

polycystic kidney disease 2-like 1

Synonyms

PCL; PKD2L; PKDL; TRPP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000325296

InnateDB Gene

IDBG-86420 (PKD2L1)

Protein Structure

UniProt Annotation

Function

Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect. {ECO:0000269PubMed:10517637, ECO:0000269PubMed:19812697, ECO:0000269PubMed:23212381, ECO:0000269PubMed:24336289}.

Subcellular Localization

Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum {ECO:0000250}. Note=Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.

Disease Associations

Tissue Specificity

Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According to PubMed:9748274, expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in adult tissues. According to PubMed:10602361, expressed in fetal brain, but not expressed in fetal lung, liver or kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts. {ECO:0000269PubMed:10602361, ECO:0000269PubMed:9748274}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005227	calcium activated cation channel activity
GO:0005261	cation channel activity
GO:0005262	calcium channel activity
GO:0005272	sodium channel activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0008324	cation transmembrane transporter activity
GO:0015269	calcium-activated potassium channel activity
GO:0033040	sour taste receptor activity
GO:0042802	identical protein binding
GO:0051371	muscle alpha-actinin binding
GO:0051393	alpha-actinin binding

Biological Process

GO:0001581	detection of chemical stimulus involved in sensory perception of sour taste
GO:0006811	ion transport
GO:0006812	cation transport
GO:0007224	smoothened signaling pathway
GO:0035725	sodium ion transmembrane transport
GO:0050915	sensory perception of sour taste
GO:0050982	detection of mechanical stimulus
GO:0055085	transmembrane transport
GO:0070207	protein homotrimerization
GO:0070588	calcium ion transmembrane transport
GO:0071468	cellular response to acidity
GO:0071805	potassium ion transmembrane transport

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031513	nonmotile primary cilium
GO:0034704	calcium channel complex
GO:0043231	intracellular membrane-bounded organelle
GO:0060170	ciliary membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000434 Polycystic kidney disease type 1 protein
IPR003915 Polycystic kidney disease type 2 protein
IPR005821 Ion transport domain
IPR013122 Polycystin cation channel, PKD1/PKD2

PFAM

PF00520
PF08016

PRINTS

PR00500
PR01433

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9P0L9