Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Polycystic kidney disease 2-like 1 protein

Gene

Pkd2l1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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. May play a role in the perception of carbonation taste.8 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.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi643 – 654PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • alpha-actinin binding Source: MGI
  • calcium activated cation channel activity Source: MGI
  • calcium-activated potassium channel activity Source: MGI
  • calcium channel activity Source: UniProtKB
  • calcium ion binding Source: BHF-UCL
  • cation channel activity Source: MGI
  • cytoskeletal protein binding Source: MGI
  • identical protein binding Source: BHF-UCL
  • muscle alpha-actinin binding Source: MGI
  • sodium channel activity Source: MGI
  • 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: MGI
  • protein homotrimerization Source: UniProtKB
  • sensory perception of sour taste Source: MGI
  • smoothened signaling pathway Source: UniProtKB
  • sodium ion transmembrane transport Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Protein family/group databases

TCDBi1.A.5.2.2. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystic kidney disease 2-like 1 protein
Alternative name(s):
Polycystin-2 homolog
Gene namesi
Name:Pkd2l1
Synonyms:Trpp3
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:1352448. Pkd2l1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 103CytoplasmicSequence analysisAdd BLAST103
Transmembranei104 – 124HelicalSequence analysisAdd BLAST21
Topological domaini125 – 313ExtracellularSequence analysisAdd BLAST189
Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Topological domaini335 – 347CytoplasmicSequence analysisAdd BLAST13
Transmembranei348 – 368HelicalSequence analysisAdd BLAST21
Topological domaini369 – 385ExtracellularSequence analysisAdd BLAST17
Transmembranei386 – 406HelicalSequence analysisAdd BLAST21
Topological domaini407 – 476CytoplasmicSequence analysisAdd BLAST70
Transmembranei477 – 497HelicalSequence analysisAdd BLAST21
Topological domaini498 – 539ExtracellularSequence analysisAdd BLAST42
Transmembranei540 – 560HelicalSequence analysisAdd BLAST21
Topological domaini561 – 760CytoplasmicSequence analysisAdd BLAST200

GO - Cellular componenti

  • calcium channel complex Source: UniProtKB
  • cation channel complex Source: BHF-UCL
  • cell surface Source: Ensembl
  • ciliary membrane Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: MGI
  • intracellular membrane-bounded organelle Source: MGI
  • membrane Source: MGI
  • non-motile cilium Source: UniProtKB
  • plasma membrane Source: MGI
  • receptor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Disruption phenotypei

Intestinal malrotation in 50% of animals, while other organs do not show major organ laterality defects Intestinal malformations are associated with SHH pathway defects during early development (PubMed:24336288). Partial reduction of chorda tympani nerve response to sour stimuli, without affecting sweet, salty, bitter, and umami perception (PubMed:21625513).2 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi523D → E: Little or no effect on calcium channel activity. 1 Publication1
Mutagenesisi523D → N: Impaired calcium channel activity. 1 Publication1
Mutagenesisi525D → N: Little or no effect on calcium channel activity. 1 Publication1
Mutagenesisi530D → N: Little or no effect on calcium channel activity. 1 Publication1
Mutagenesisi568K → A: Induces localization to the cell surface when expressed in absence of PKD1. 1 Publication1
Mutagenesisi576D → A: Induces localization to the endoplasmic reticulum when expressed in absence of PKD1. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004255511 – 760Polycystic kidney disease 2-like 1 proteinAdd BLAST760

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi177N-linked (GlcNAc...)Sequence analysis1
Glycosylationi207N-linked (GlcNAc...)Sequence analysis1
Glycosylationi241N-linked (GlcNAc...)Sequence analysis1
Glycosylationi505N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiA2A259.
PeptideAtlasiA2A259.
PRIDEiA2A259.

PTM databases

PhosphoSitePlusiA2A259.

Expressioni

Tissue specificityi

Expressed in all 4 taste areas in taste buds: circumvallate papillae, foliate papillae, fungiform papillae and palate. Expressed in cells distinct from those mediating sweet, umami and bitter taste (at protein level). Expressed in type III taste cells (at protein level).4 Publications

Gene expression databases

BgeeiENSMUSG00000037578.
GenevisibleiA2A259. MM.

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 PKD1L1; to form ciliary calcium channel. Interacts with PKD1L3, to form putative sour taste receptor. Interacts with PKD1. Interacts with RACK1; inhibits the channel activity possibly by impairing localization to the cell membrane.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi236700. 1 interactor.
DIPiDIP-61250N.
STRINGi10090.ENSMUSP00000045675.

Structurei

3D structure databases

ProteinModelPortaliA2A259.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini630 – 665EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni701 – 760Required for protein homotrimerizationBy similarityAdd BLAST60

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili559 – 580Sequence analysisAdd BLAST22
Coiled coili650 – 682Sequence analysisAdd BLAST33

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi195 – 207Polycystin motifAdd BLAST13

Domaini

The EF-hand domain probably mediates calcium-binding. It is not required for channel activation (By similarity).By similarity

Sequence similaritiesi

Belongs to the polycystin family.Curated
Contains 1 EF-hand domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3599. Eukaryota.
ENOG410XTGE. LUCA.
GeneTreeiENSGT00700000104221.
HOGENOMiHOG000230858.
HOVERGENiHBG014945.
InParanoidiA2A259.
KOiK04990.
OMAiFIYYENM.
OrthoDBiEOG091G034F.
PhylomeDBiA2A259.
TreeFamiTF316484.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]
PRINTSiPR01433. POLYCYSTIN2.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

A2A259-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNSMESPKNQ ELQTLGNRAW DNPAYSDPPS PNRTLRICTV SSVALPETQP
60 70 80 90 100
KKPEVRCQEK TQRTLVSSCC LHICRSIRGL WGTTLTENTA ENRELYVKTT
110 120 130 140 150
LRELVVYIVF LVDICLLTYG MTSSSAYYYT KVMSELFLHT PSDSGVSFQT
160 170 180 190 200
ISSMSDFWDF AQGPLLDSLY WTKWYNNQSL GRGSHSFIYY ENLLLGAPRL
210 220 230 240 250
RQLRVRNDSC VVHEDFREDI LNCYDVYSPD KEDQLPFGPQ NGTAWTYHSQ
260 270 280 290 300
NELGGSSHWG RLTSYSGGGY YLDLPGSRQA SAEALQGLQE GLWLDRGTRV
310 320 330 340 350
VFIDFSVYNA NINLFCILRL VVEFPATGGT IPSWQIRTVK LIRYVNNWDF
360 370 380 390 400
FIVGCEVVFC VFIFYYVVEE ILEIHLHRLR YLSSVWNILD LVVILLSIVA
410 420 430 440 450
VGFHIFRTLE VNRLMGKLLQ QPDTYADFEF LAFWQTQYNN MNAVNLFFAW
460 470 480 490 500
IKIFKYISFN KTMTQLSSTL ARCAKDILGF AIMFFIVFFA YAQLGYLLFG
510 520 530 540 550
TQVENFSTFV KCIFTQFRII LGDFDYNAID NANRILGPVY FVTYVFFVFF
560 570 580 590 600
VLLNMFLAII NDTYSEVKEE LAGQKDQLQL SDFLKQSYNK TLLRLRLRKE
610 620 630 640 650
RVSDVQKVLK GGEPEIQFED FTSTLRELGH EEHEITAAFT RFDQDGDHIL
660 670 680 690 700
DEEEQEQMRQ GLEEERVTLN AEIENLGRSV GHSPPGELGA EAARGQSWVS
710 720 730 740 750
GEEFDMLTRR VLQLQCVLEG VVSQIDAVGS KLKMLERKGE LAPSPGMGEP
760
AVWENLYNPS
Length:760
Mass (Da):87,234
Last modified:February 20, 2007 - v1
Checksum:i4C76777051CFC2EF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti114I → V in AAK58371 (Ref. 2) Curated1
Sequence conflicti114I → V in AAI16324 (PubMed:15489334).Curated1
Sequence conflicti114I → V in AAI16298 (PubMed:15489334).Curated1
Sequence conflicti202 – 203QL → HV in AAK58371 (Ref. 2) Curated2
Sequence conflicti438Y → D in AAK58371 (Ref. 2) Curated1
Sequence conflicti482I → V in AAK58371 (Ref. 2) Curated1
Sequence conflicti756L → P in AAI16324 (PubMed:15489334).Curated1
Sequence conflicti756L → P in AAI16298 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB290927 mRNA. Translation: BAF45380.1.
AF271381 mRNA. Translation: AAK58371.1.
AC125101 Genomic DNA. No translation available.
BC116297 mRNA. Translation: AAI16298.1.
BC116323 mRNA. Translation: AAI16324.2.
CCDSiCCDS29846.1.
RefSeqiNP_852087.2. NM_181422.3.
UniGeneiMm.308481.

Genome annotation databases

EnsembliENSMUST00000042026; ENSMUSP00000045675; ENSMUSG00000037578.
GeneIDi329064.
KEGGimmu:329064.
UCSCiuc008hpm.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB290927 mRNA. Translation: BAF45380.1.
AF271381 mRNA. Translation: AAK58371.1.
AC125101 Genomic DNA. No translation available.
BC116297 mRNA. Translation: AAI16298.1.
BC116323 mRNA. Translation: AAI16324.2.
CCDSiCCDS29846.1.
RefSeqiNP_852087.2. NM_181422.3.
UniGeneiMm.308481.

3D structure databases

ProteinModelPortaliA2A259.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi236700. 1 interactor.
DIPiDIP-61250N.
STRINGi10090.ENSMUSP00000045675.

Protein family/group databases

TCDBi1.A.5.2.2. the polycystin cation channel (pcc) family.

PTM databases

PhosphoSitePlusiA2A259.

Proteomic databases

PaxDbiA2A259.
PeptideAtlasiA2A259.
PRIDEiA2A259.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000042026; ENSMUSP00000045675; ENSMUSG00000037578.
GeneIDi329064.
KEGGimmu:329064.
UCSCiuc008hpm.2. mouse.

Organism-specific databases

CTDi9033.
MGIiMGI:1352448. Pkd2l1.

Phylogenomic databases

eggNOGiKOG3599. Eukaryota.
ENOG410XTGE. LUCA.
GeneTreeiENSGT00700000104221.
HOGENOMiHOG000230858.
HOVERGENiHBG014945.
InParanoidiA2A259.
KOiK04990.
OMAiFIYYENM.
OrthoDBiEOG091G034F.
PhylomeDBiA2A259.
TreeFamiTF316484.

Miscellaneous databases

PROiA2A259.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000037578.
GenevisibleiA2A259. MM.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view]
PfamiPF08016. PKD_channel. 1 hit.
[Graphical view]
PRINTSiPR01433. POLYCYSTIN2.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPK2L1_MOUSE
AccessioniPrimary (citable) accession number: A2A259
Secondary accession number(s): Q14B55, Q14B73, Q80ZH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 19, 2014
Last sequence update: February 20, 2007
Last modified: November 30, 2016
This is version 75 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Caution

Pkd1l3 and Pkd2l1 have been defined as sour taste receptor in gustatory cells based on a number of indirect evidences: Pkd2l1 is expressed in a subset of taste receptor cells distinct from those responsible for sweet, bitter and unami taste and genetic elimination of cells expressing Pkd2l1 reduces gustatory nerve responses to sour taste stimuli (PubMed:16891422, PubMed:16929298). However, a number of experiments have recently shown that the sour taste receptor activity is probably indirect: mice lacking Pkd2l1 only show partial defects in sour taste perception (PubMed:21625513). Moreover, the PKD1L3-PKD2L1 heteromer, when expressed in cells does not respond to acid stimuli used to evoke proton currents in taste cells (PubMed:21098668).4 Publications

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.