UniProtKB - Q9P0L9 (PK2L1_HUMAN)
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Protein
Polycystic kidney disease 2-like 1 protein
Gene
PKD2L1
Organism
Homo sapiens (Human)
Status
Functioni
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.4 Publications
Enzyme regulationi
The calcium channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application.3 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 646 – 657 | Sequence analysisAdd BLAST | 12 |
GO - Molecular functioni
- alpha-actinin binding Source: BHF-UCL
- calcium activated cation channel activity Source: BHF-UCL
- calcium-activated potassium channel activity Source: BHF-UCL
- calcium channel activity Source: UniProtKB
- calcium ion binding Source: UniProtKB
- cation channel activity Source: BHF-UCL
- cytoskeletal protein binding Source: UniProtKB
- identical protein binding Source: BHF-UCL
- muscle alpha-actinin binding Source: BHF-UCL
- sodium channel activity Source: BHF-UCL
- sour taste receptor activity Source: Ensembl
GO - Biological processi
- cation transport Source: BHF-UCL
- cellular response to acidic pH Source: BHF-UCL
- detection of chemical stimulus involved in sensory perception of sour taste Source: BHF-UCL
- detection of mechanical stimulus Source: GO_Central
- potassium ion transmembrane transport Source: BHF-UCL
- protein homotrimerization Source: UniProtKB
- sensory perception of sour taste Source: UniProtKB
- smoothened signaling pathway Source: UniProtKB
- sodium ion transmembrane transport Source: BHF-UCL
Keywordsi
Molecular function | Calcium channel, Ion channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium |
Protein family/group databases
TCDBi | 1.A.5.1.3. the polycystin cation channel (pcc) family. |
Names & Taxonomyi
Protein namesi | Recommended name: Polycystic kidney disease 2-like 1 proteinAlternative name(s): Polycystin-2 homolog Polycystin-2L1 Polycystin-L Polycystin-L1 |
Gene namesi | Name:PKD2L1 Synonyms:PKD2L, PKDL, TRPP3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000107593.16. |
HGNCi | HGNC:9011. PKD2L1. |
MIMi | 604532. gene. |
neXtProti | NX_Q9P0L9. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 103 | CytoplasmicSequence analysisAdd BLAST | 103 | |
Transmembranei | 104 – 124 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 125 – 313 | ExtracellularSequence analysisAdd BLAST | 189 | |
Transmembranei | 314 – 334 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 335 – 347 | CytoplasmicSequence analysisAdd BLAST | 13 | |
Transmembranei | 348 – 368 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 369 – 384 | ExtracellularSequence analysisAdd BLAST | 16 | |
Transmembranei | 385 – 405 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 406 – 476 | CytoplasmicSequence analysisAdd BLAST | 71 | |
Transmembranei | 477 – 497 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 498 – 511 | ExtracellularSequence analysisAdd BLAST | 14 | |
Intramembranei | 512 – 526 | Pore-formingBy similarityAdd BLAST | 15 | |
Topological domaini | 527 – 539 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 540 – 560 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 561 – 805 | CytoplasmicSequence analysisAdd BLAST | 245 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 523 – 525 | DFD → AFA: Abolishes ion channel activity. 1 Publication | 3 | |
Mutagenesisi | 523 | D → Q: Increased permeability of dimethylamine and trimethylamine and decreased permeability of magnesium. 1 Publication | 1 | |
Mutagenesisi | 525 | D → K: Increased permeability of dimethylamine and trimethylamine and decreased permeability of magnesium. 1 Publication | 1 | |
Mutagenesisi | 530 | D → A: Does not affect ion channel activity. | 1 | |
Mutagenesisi | 710 | L → A: Abolishes homotrimer formation; when associated with A-714; A-717; A-728; A-731 and A-735. 1 Publication | 1 | |
Mutagenesisi | 714 | V → A: Abolishes homotrimer formation; when associated with A-710; A-717; A-728; A-731 and A-735. 1 Publication | 1 | |
Mutagenesisi | 717 | L → A: Abolishes homotrimer formation; when associated with A-710; A-714; A-728; A-731 and A-735. 1 Publication | 1 | |
Mutagenesisi | 728 | I → A: Abolishes homotrimer formation; when associated with A-710; A-714; A-717; A-731 and A-735. 1 Publication | 1 | |
Mutagenesisi | 731 | V → A: Abolishes homotrimer formation; when associated with A-710; A-714; A-717; A-728 and A-735. 1 Publication | 1 | |
Mutagenesisi | 735 | L → A: Abolishes homotrimer formation; when associated with A-710; A-714; A-717; A-728 and A-731. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 9033. |
OpenTargetsi | ENSG00000107593. |
PharmGKBi | PA33344. |
Chemistry databases
GuidetoPHARMACOLOGYi | 505. |
Polymorphism and mutation databases
BioMutai | PKD2L1. |
DMDMi | 23821938. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000164360 | 1 – 805 | Polycystic kidney disease 2-like 1 proteinAdd BLAST | 805 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 177 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 207 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 210 ↔ 223 | By similarity | ||
Glycosylationi | 241 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 505 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
PaxDbi | Q9P0L9. |
PeptideAtlasi | Q9P0L9. |
PRIDEi | Q9P0L9. |
PTM databases
iPTMneti | Q9P0L9. |
PhosphoSitePlusi | Q9P0L9. |
Expressioni
Tissue specificityi
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.2 Publications
Gene expression databases
Bgeei | ENSG00000107593. |
CleanExi | HS_PKD2L1. |
ExpressionAtlasi | Q9P0L9. baseline and differential. |
Genevisiblei | Q9P0L9. HS. |
Organism-specific databases
HPAi | CAB022621. |
Interactioni
Subunit structurei
Homotrimer; trimerization is independent of calcium-binding. Calcium channels are probably composed of 3 subunit of PKD2L1 and 1 subunit of some PKD1 protein (PKD1, PKD1L1, PKD1L2 or PKDL3). Interacts with PKD1. Interacts with PKD1L1; to form ciliary calcium channel. Interacts with PKD1L3, to form putative sour taste receptor. Interacts with RACK1; inhibits the channel activity possibly by impairing localization to the cell membrane.6 Publications
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
CLDN19 | Q8N6F1-2 | 3 | EBI-7956847,EBI-12256978 |
GO - Molecular functioni
- alpha-actinin binding Source: BHF-UCL
- cytoskeletal protein binding Source: UniProtKB
- identical protein binding Source: BHF-UCL
- muscle alpha-actinin binding Source: BHF-UCL
Protein-protein interaction databases
BioGridi | 114499. 2 interactors. |
IntActi | Q9P0L9. 2 interactors. |
MINTi | Q9P0L9. |
STRINGi | 9606.ENSP00000325296. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 704 – 731 | Combined sources | 28 | |
Helixi | 734 – 741 | Combined sources | 8 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3TE3 | X-ray | 2.69 | A/B/C/D/E/F | 699-737 | [»] | |
4GIF | X-ray | 2.80 | A | 699-743 | [»] | |
ProteinModelPortali | Q9P0L9. | |||||
SMRi | Q9P0L9. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 633 – 668 | EF-handAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 704 – 763 | Required for protein homotrimerizationAdd BLAST | 60 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 650 – 686 | Sequence analysisAdd BLAST | 37 |
Domaini
The EF-hand domain probably mediates calcium-binding. It is not required for channel activation (PubMed:11959145).1 Publication
Sequence similaritiesi
Belongs to the polycystin family.Curated
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3599. Eukaryota. ENOG410XTGE. LUCA. |
GeneTreei | ENSGT00700000104221. |
HOGENOMi | HOG000230858. |
HOVERGENi | HBG014945. |
InParanoidi | Q9P0L9. |
KOi | K04990. |
OMAi | FSTFVKC. |
OrthoDBi | EOG091G034F. |
PhylomeDBi | Q9P0L9. |
TreeFami | TF316484. |
Family and domain databases
Gene3Di | 1.20.120.350. 1 hit. |
InterProi | View protein in InterPro IPR013122. PKD1_2_channel. IPR003915. PKD_2. IPR027359. Volt_channel_dom_sf. |
Pfami | View protein in Pfam PF08016. PKD_channel. 1 hit. |
PRINTSi | PR01433. POLYCYSTIN2. |
s (5)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9P0L9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MNAVGSPEGQ ELQKLGSGAW DNPAYSGPPS PHGTLRVCTI SSTGPLQPQP
60 70 80 90 100
KKPEDEPQET AYRTQVSSCC LHICQGIRGL WGTTLTENTA ENRELYIKTT
110 120 130 140 150
LRELLVYIVF LVDICLLTYG MTSSSAYYYT KVMSELFLHT PSDTGVSFQA
160 170 180 190 200
ISSMADFWDF AQGPLLDSLY WTKWYNNQSL GHGSHSFIYY ENMLLGVPRL
210 220 230 240 250
RQLKVRNDSC VVHEDFREDI LSCYDVYSPD KEEQLPFGPF NGTAWTYHSQ
260 270 280 290 300
DELGGFSHWG RLTSYSGGGY YLDLPGSRQG SAEALRALQE GLWLDRGTRV
310 320 330 340 350
VFIDFSVYNA NINLFCVLRL VVEFPATGGA IPSWQIRTVK LIRYVSNWDF
360 370 380 390 400
FIVGCEVIFC VFIFYYVVEE ILELHIHRLR YLSSIWNILD LVVILLSIVA
410 420 430 440 450
VGFHIFRTLE VNRLMGKLLQ QPNTYADFEF LAFWQTQYNN MNAVNLFFAW
460 470 480 490 500
IKIFKYISFN KTMTQLSSTL ARCAKDILGF AVMFFIVFFA YAQLGYLLFG
510 520 530 540 550
TQVENFSTFI KCIFTQFRII LGDFDYNAID NANRILGPAY FVTYVFFVFF
560 570 580 590 600
VLLNMFLAII NDTYSEVKEE LAGQKDELQL SDLLKQGYNK TLLRLRLRKE
610 620 630 640 650
RVSDVQKVLQ GGEQEIQFED FTNTLRELGH AEHEITELTA TFTKFDRDGN
660 670 680 690 700
RILDEKEQEK MRQDLEEERV ALNTEIEKLG RSIVSSPQGK SGPEAARAGG
710 720 730 740 750
WVSGEEFYML TRRVLQLETV LEGVVSQIDA VGSKLKMLER KGWLAPSPGV
760 770 780 790 800
KEQAIWKHPQ PAPAVTPDPW GVQGGQESEV PYKREEEALE ERRLSRGEIP
TLQRS
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 13 | Q → H in AAD41638 (PubMed:9748274).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050555 | 278 | R → Q. Corresponds to variant dbSNP:rs17112895Ensembl. | 1 | |
Natural variantiVAR_050556 | 378 | R → W. Corresponds to variant dbSNP:rs7909153Ensembl. | 1 | |
Natural variantiVAR_024569 | 393 | V → I1 PublicationCorresponds to variant dbSNP:rs2278842Ensembl. | 1 | |
Natural variantiVAR_024570 | 681 | R → L. Corresponds to variant dbSNP:rs6584356Ensembl. | 1 | |
Natural variantiVAR_050557 | 788 | A → D. Corresponds to variant dbSNP:rs12782963Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004728 | 225 – 344 | Missing in isoform 4. 1 PublicationAdd BLAST | 120 | |
Alternative sequenceiVSP_004729 | 245 – 319 | Missing in isoform 3. CuratedAdd BLAST | 75 | |
Alternative sequenceiVSP_053718 | 638 – 666 | Missing in isoform 5. CuratedAdd BLAST | 29 | |
Alternative sequenceiVSP_004730 | 751 – 760 | KEQAIWKHPQ → RFPIKEKRKP in isoform 2. Curated | 10 | |
Alternative sequenceiVSP_004731 | 761 – 805 | Missing in isoform 2. CuratedAdd BLAST | 45 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF073481 mRNA. Translation: AAD41638.1. AF153474 AF153473 Genomic DNA. Translation: AAF28108.1. AL139819 Genomic DNA. Translation: CAH72822.1. CH471066 Genomic DNA. Translation: EAW49833.1. BC025665 mRNA. Translation: AAH25665.1. AF094827 mRNA. Translation: AAD08695.1. AF053316 mRNA. Translation: AAD51859.1. |
CCDSi | CCDS7492.1. [Q9P0L9-1] |
RefSeqi | NP_001240766.1. NM_001253837.1. NP_057196.2. NM_016112.2. [Q9P0L9-1] |
UniGenei | Hs.159241. |
Genome annotation databases
Ensembli | ENST00000318222; ENSP00000325296; ENSG00000107593. [Q9P0L9-1] |
GeneIDi | 9033. |
KEGGi | hsa:9033. |
UCSCi | uc001kqx.2. human. [Q9P0L9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | PK2L1_HUMAN | |
Accessioni | Q9P0L9Primary (citable) accession number: Q9P0L9 Secondary accession number(s): O75972 Q9UPA2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 28, 2018 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Caution
PKD1L3 and PKD2L1 have been defined as sour taste receptor in gustatory cells based on a number of indirect evidences in mouse. Some data confirm this hypothesis in human: in 2 patients with sour ageusia that are unresponsive to sour stimuli, but show normal responses to bitter, sweet, and salty stimuli, expression of PKD1L3 and PKD2L1 is absent in the anterior part of the tongue (PubMed:19812697). However, a number of experiments have recently shown that the sour taste receptor activity is probably indirect.1 Publication