HUMAN:PK2L1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	PKD2L1 (synonyms: PKD2L, PKDL, TRPP3)
Protein Name(s)	Polycystic kidney disease 2-like 1 protein Polycystin-2 homolog Polycystin-2L1 Polycystin-L Polycystin-L1
External Links
UniProt	Q9P0L9
EMBL	AF073481 AF153474 AF153459 AF153460 AF153461 AF153462 AF153463 AF153464 AF153465 AF153466 AF153467 AF153468 AF153469 AF153470 AF153471 AF153472 AF153473 AL139819 CH471066 BC025665 AF094827 AF053316
CCDS	CCDS7492.1
RefSeq	NP_001240766.1 NP_057196.2
UniGene	Hs.159241
PDB	3TE3 4GIF
PDBsum	3TE3 4GIF
ProteinModelPortal	Q9P0L9
SMR	Q9P0L9
BioGrid	114499
IntAct	Q9P0L9
MINT	MINT-3973148
STRING	9606.ENSP00000325296
ChEMBL	CHEMBL1628480
GuidetoPHARMACOLOGY	505
TCDB	1.A.5.1.3
DMDM	23821938
PaxDb	Q9P0L9
PRIDE	Q9P0L9
DNASU	9033
Ensembl	ENST00000318222
GeneID	9033
KEGG	hsa:9033
UCSC	uc001kqx.1
CTD	9033
GeneCards	GC10M102047
HGNC	HGNC:9011
HPA	CAB022621
MIM	604532
neXtProt	NX_Q9P0L9
PharmGKB	PA33344
eggNOG	NOG325704
GeneTree	ENSGT00700000104221
HOGENOM	HOG000230858
HOVERGEN	HBG014945
InParanoid	Q9P0L9
KO	K04990
OMA	FSTFVKC
OrthoDB	EOG7N8ZTW
PhylomeDB	Q9P0L9
TreeFam	TF316484
GeneWiki	PKD2L1
GenomeRNAi	9033
NextBio	33843
PRO	PR:Q9P0L9
Proteomes	UP000005640
Bgee	Q9P0L9
CleanEx	HS_PKD2L1
ExpressionAtlas	Q9P0L9
Genevestigator	Q9P0L9
GO	GO:0034704 GO:0009986 GO:0060170 GO:0005783 GO:0016021 GO:0043231 GO:0016020 GO:0031513 GO:0005886 GO:0051393 GO:0005227 GO:0005262 GO:0005509 GO:0015269 GO:0005261 GO:0008092 GO:0042802 GO:0051371 GO:0005272 GO:0033040 GO:0006812 GO:0071468 GO:0001581 GO:0050982 GO:0071805 GO:0070207 GO:0050915 GO:0007224 GO:0035725
Gene3D	1.10.238.10
InterPro	IPR011992 IPR013122 IPR003915
Pfam	PF08016
PRINTS	PR01433

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0098662	inorganic cation transmembrane transport	PMID:30004384^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005261	cation channel activity	PMID:30004384^[1]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0051289	protein homotetramerization	PMID:30004384^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050912	detection of chemical stimulus involved in sensory perception of taste	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	P		Seeded From UniProt	complete
part_of	GO:0043235	receptor complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	C		Seeded From UniProt	complete
involved_in	GO:0050915	sensory perception of sour taste	PMID:19812697^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19812697^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001727)	Seeded From UniProt	complete
involved_in	GO:0071805	potassium ion transmembrane transport	PMID:10517637^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071468	cellular response to acidic pH	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	P		Seeded From UniProt	complete
enables	GO:0051393	alpha-actinin binding	PMID:17944866^[4]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P12814	F		Seeded From UniProt	complete
enables	GO:0051371	muscle alpha-actinin binding	PMID:17944866^[4]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P35609	F		Seeded From UniProt	complete
part_of	GO:0043231	intracellular membrane-bounded organelle	PMID:17944866^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	F		Seeded From UniProt	complete
involved_in	GO:0035725	sodium ion transmembrane transport	PMID:10517637^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
contributes_to	GO:0033040	sour taste receptor activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:9748274^[5]	ECO:0000303	author statement without traceable support used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0015269	calcium-activated potassium channel activity	PMID:10517637^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
colocalizes_with	GO:0009986	cell surface	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	C		Seeded From UniProt	complete
contributes_to	GO:0008324	cation transmembrane transporter activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	F		Seeded From UniProt	complete
involved_in	GO:0006812	cation transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:17944866^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	C		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	F		Seeded From UniProt	complete
enables	GO:0005272	sodium channel activity	PMID:10517637^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005261	cation channel activity	PMID:17944866^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005227	calcium activated cation channel activity	PMID:11959145^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005227	calcium activated cation channel activity	PMID:10517637^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0001581	detection of chemical stimulus involved in sensory perception of sour taste	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	P		Seeded From UniProt	complete
part_of	GO:0034704	calcium channel complex	PMID:24336289^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	PMID:24336289^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:9878261^[8]	ECO:0000303	author statement without traceable support used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0008092	cytoskeletal protein binding	PMID:12809519^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P19429	F		Seeded From UniProt	complete
involved_in	GO:0007224	smoothened signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:A2A259	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:20538909^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	PMID:22193359^[11]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	PMID:24336289^[7]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0050982	detection of mechanical stimulus	PMID:21873635^[12]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1099818 PANTHER:PTN000093539 UniProtKB:E7FKV8 UniProtKB:H2LRU7	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:21873635^[12]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000093539 RGD:1559992 UniProtKB:Q9P0L9 WB:WBGene00004035	C		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	PMID:21873635^[12]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1099818 MGI:MGI:1352448 PANTHER:PTN000093539 UniProtKB:Q8TDX9 UniProtKB:Q9P0L9 WB:WBGene00004035	F		Seeded From UniProt	complete
involved_in	GO:0098662	inorganic cation transmembrane transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
involved_in	GO:0071468	cellular response to acidic pH	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
involved_in	GO:0071467	cellular response to pH	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
involved_in	GO:0051262	protein tetramerization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
involved_in	GO:0050912	detection of chemical stimulus involved in sensory perception of taste	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
part_of	GO:0043235	receptor complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	F		Seeded From UniProt	complete
part_of	GO:0034704	calcium channel complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
part_of	GO:0034703	cation channel complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
enables	GO:0033040	sour taste receptor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	F		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
involved_in	GO:0009415	response to water	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
enables	GO:0008324	cation transmembrane transporter activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	F		Seeded From UniProt	complete
involved_in	GO:0007224	smoothened signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
involved_in	GO:0006812	cation transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	C		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	F		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	F		Seeded From UniProt	complete
enables	GO:0005261	cation channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	F		Seeded From UniProt	complete
involved_in	GO:0001581	detection of chemical stimulus involved in sensory perception of sour taste	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A2A259 ensembl:ENSMUSP00000045675	P		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003915	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003915	C		Seeded From UniProt	complete
enables	GO:0005262	calcium channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0107	F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969	C		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
involved_in	GO:0006816	calcium ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0109	P		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0968	C		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
involved_in	GO:0070588	calcium ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0107	P		Seeded From UniProt	complete
part_of	GO:0060170	ciliary membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0305	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 Hulse, RE et al. (2018) Cryo-EM structure of the polycystin 2-l1 ion channel. Elife 7 PubMed GONUTS page
↑ ^2.0 ^2.1 Huque, T et al. (2009) Sour ageusia in two individuals implicates ion channels of the ASIC and PKD families in human sour taste perception at the anterior tongue. PLoS ONE 4 e7347 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 Chen, XZ et al. (1999) Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Nature 401 383-6 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Li, Q et al. (2007) Direct binding of alpha-actinin enhances TRPP3 channel activity. J. Neurochem. 103 2391-400 PubMed GONUTS page
↑ Nomura, H et al. (1998) Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J. Biol. Chem. 273 25967-73 PubMed GONUTS page
↑ Li, Q et al. (2002) The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. FEBS Lett. 516 270-8 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 DeCaen, PG et al. (2013) Direct recording and molecular identification of the calcium channel of primary cilia. Nature 504 315-8 PubMed GONUTS page
↑ Wu, G et al. (1998) Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. Genomics 54 564-8 PubMed GONUTS page
↑ Li, Q et al. (2003) Troponin I binds polycystin-L and inhibits its calcium-induced channel activation. Biochemistry 42 7618-25 PubMed GONUTS page
↑ Ishimaru, Y et al. (2010) Interaction between PKD1L3 and PKD2L1 through their transmembrane domains is required for localization of PKD2L1 at taste pores in taste cells of circumvallate and foliate papillae. FASEB J. 24 4058-67 PubMed GONUTS page
↑ Molland, KL et al. (2012) Crystal structure and characterization of coiled-coil domain of the transient receptor potential channel PKD2L1. Biochim. Biophys. Acta 1824 413-21 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:30004384-1] 1.0 ^1.1 ^1.2 Hulse, RE et al. (2018) Cryo-EM structure of the polycystin 2-l1 ion channel. Elife 7 PubMed GONUTS page

[PMID:19812697-2] 2.0 ^2.1 Huque, T et al. (2009) Sour ageusia in two individuals implicates ion channels of the ASIC and PKD families in human sour taste perception at the anterior tongue. PLoS ONE 4 e7347 PubMed GONUTS page

[PMID:10517637-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 Chen, XZ et al. (1999) Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. Nature 401 383-6 PubMed GONUTS page

[PMID:17944866-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 Li, Q et al. (2007) Direct binding of alpha-actinin enhances TRPP3 channel activity. J. Neurochem. 103 2391-400 PubMed GONUTS page

[PMID:9748274-5] Nomura, H et al. (1998) Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. J. Biol. Chem. 273 25967-73 PubMed GONUTS page

[PMID:11959145-6] Li, Q et al. (2002) The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. FEBS Lett. 516 270-8 PubMed GONUTS page

[PMID:24336289-7] 7.0 ^7.1 ^7.2 DeCaen, PG et al. (2013) Direct recording and molecular identification of the calcium channel of primary cilia. Nature 504 315-8 PubMed GONUTS page

[PMID:9878261-8] Wu, G et al. (1998) Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. Genomics 54 564-8 PubMed GONUTS page

[PMID:12809519-9] Li, Q et al. (2003) Troponin I binds polycystin-L and inhibits its calcium-induced channel activation. Biochemistry 42 7618-25 PubMed GONUTS page

[PMID:20538909-10] Ishimaru, Y et al. (2010) Interaction between PKD1L3 and PKD2L1 through their transmembrane domains is required for localization of PKD2L1 at taste pores in taste cells of circumvallate and foliate papillae. FASEB J. 24 4058-67 PubMed GONUTS page

[PMID:22193359-11] Molland, KL et al. (2012) Crystal structure and characterization of coiled-coil domain of the transient receptor potential channel PKD2L1. Biochim. Biophys. Acta 1824 413-21 PubMed GONUTS page

[PMID:21873635-12] 12.0 ^12.1 ^12.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:PK2L1

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