Version 5.4
Homo sapiens Protein: PKD1L1
Summary
InnateDB Protein IDBP-15984.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PKD1L1
Protein Name polycystic kidney disease 1 like 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000289672
InnateDB Gene IDBG-15982 (PKD1L1)
Protein Structure
UniProt Annotation
Function 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:0000269PubMed:24336289}.
Subcellular Localization Cell projection, cilium membrane {ECO:0000269PubMed:24336289}; Multi-pass membrane protein {ECO:0000269PubMed:24336289}.
Disease Associations
Tissue Specificity Detected in testis and in fetal and adult heart.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005262 calcium channel activity
GO:0005515 protein binding
Biological Process
GO:0003127 detection of nodal flow
GO:0016337 single organismal cell-cell adhesion
GO:0050982 detection of mechanical stimulus
GO:0070588 calcium ion transmembrane transport
GO:0070986 left/right axis specification
Cellular Component
GO:0005929 cilium
GO:0016020 membrane
GO:0031513 nonmotile primary cilium
GO:0034704 calcium channel complex
GO:0060170 ciliary membrane
Protein Structure and Domains
PDB ID
InterPro IPR000601 PKD domain
IPR001024 PLAT/LH2 domain
IPR002859 PKD/REJ-like protein
IPR008976 Lipase/lipooxygenase, PLAT/LH2
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR014010 Egg jelly receptor, REJ-like
IPR022409 PKD/Chitinase domain
PFAM PF00801
PF01477
PF02010
PF08016
PRINTS
PIRSF
SMART SM00308
SM00089
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TDX9
PhosphoSite PhosphoSite-Q8TDX9
TrEMBL
UniProt Splice Variant
Entrez Gene 168507
UniGene Hs.195979
RefSeq NP_612152
HUGO HGNC:18053
OMIM 609721
CCDS CCDS34633
HPRD 10154
IMGT
EMBL AB061683 AY358757
GenPept AAQ89117 BAB85807

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca