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
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca2+ (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:23212381, PubMed:30004384). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration (PubMed:24336289). The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289). Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells (PubMed:19812697). The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again (PubMed:23212381). May play a role in the perception of carbonation taste (By similarity). May play a role in the sensory perception of water, via a mechanism that activates the channel in response to dilution of salivary bicarbonate and changes in salivary pH (By similarity).By similarity9 Publications

Caution

The active channel complex is an obligate tetramer (PubMed:25820328, PubMed:30004384). In contrast, the isolated cytoplasmic C-terminal domain forms homotrimers in vitro (PubMed:20408813, PubMed:25820328, PubMed:23212381). Likewise, photobleaching experiments suggest formation of homotrimers in the membrane (PubMed:23212381).4 Publications
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

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

The cation channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application (PubMed:23212381). Channel activity is inhibited by phosphatidylinositol-4,5-bisphosphate (PIP2) (PubMed:29425510).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi646 – 657PROSITE-ProRule annotationAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.5.1.3 the polycystin cation channel (pcc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Polycystic kidney disease 2-like 1 protein
Alternative name(s):
Polycystin-2 homolog
Polycystin-2L1
Polycystin-L2 Publications
Polycystin-L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PKD2L1
Synonyms:PKD2L, PKDL1 Publication, TRPP32 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000107593.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9011 PKD2L1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604532 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P0L9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 103Cytoplasmic1 PublicationAdd BLAST103
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei104 – 124Helical1 PublicationAdd BLAST21
Topological domaini125 – 356Extracellular1 PublicationAdd BLAST232
Transmembranei357 – 376Helical1 PublicationAdd BLAST20
Topological domaini377 – 384Cytoplasmic1 Publication8
Transmembranei385 – 405Helical1 PublicationAdd BLAST21
Topological domaini406 – 433Extracellular1 PublicationAdd BLAST28
Transmembranei434 – 454Helical1 PublicationAdd BLAST21
Topological domaini455 – 479Cytoplasmic1 PublicationAdd BLAST25
Transmembranei480 – 499Helical1 PublicationAdd BLAST20
Topological domaini500 – 511Extracellular1 PublicationAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei512 – 526Pore-forming1 PublicationAdd BLAST15
Topological domaini527 – 536Extracellular1 Publication10
Transmembranei537 – 557Helical1 PublicationAdd BLAST21
Topological domaini558 – 805Cytoplasmic1 PublicationAdd BLAST248

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasmic vesicle, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2 – 96Missing : Loss of channel activity. No effect on expression at the cell membrane. 1 PublicationAdd BLAST95
Mutagenesisi2 – 38Missing : Loss of channel activity. 1 PublicationAdd BLAST37
Mutagenesisi2 – 36Missing : No effect on channel activity. 1 PublicationAdd BLAST35
Mutagenesisi38C → A: Strongly decreased channel activity. No effect on expression at the cell membrane. Loss of palmitoylation. 1 Publication1
Mutagenesisi39T → D or E: Decreased channel activity. 1 Publication1
Mutagenesisi81 – 95Missing : Loss of channel activity. 1 PublicationAdd BLAST15
Mutagenesisi81W → A, K, L or R: Loss of channel activity. No effect on expression at the cell membrane. 1 Publication1
Mutagenesisi523 – 525DFD → AFA: Abolishes ion channel activity. 1 Publication3
Mutagenesisi523D → Q: Increased permeability of dimethylamine and trimethylamine and decreased permeability of magnesium. 1 Publication1
Mutagenesisi525D → K: Increased permeability of dimethylamine and trimethylamine and decreased permeability of magnesium. 1 Publication1
Mutagenesisi530D → A: Does not affect ion channel activity. 1
Mutagenesisi566 – 805Missing : Loss of channel activity. No effect on expression at the cell membrane. 1 PublicationAdd BLAST240
Mutagenesisi568K → A, D or E: Loss of channel activity. 1 Publication1
Mutagenesisi581 – 805Missing : Loss of channel activity. No effect on expression at the cell membrane. 1 PublicationAdd BLAST225
Mutagenesisi594 – 599Missing : Loss of phosphatidylinositol-4,5-bisphosphate binding. 1 Publication6
Mutagenesisi594R → Q: Increased channel activity. 1 Publication1
Mutagenesisi596R → Q: Increased channel activity. 1 Publication1
Mutagenesisi598R → Q: Mildly increased channel activity. 1 Publication1
Mutagenesisi599K → Q: Mildly increased channel activity. 1 Publication1
Mutagenesisi622 – 805Missing : No effect on channel activity. No effect on expression at the cell membrane. 1 PublicationAdd BLAST184
Mutagenesisi710L → A: Abolishes homooligomer formation; when associated with A-714; A-717; A-728; A-731 and A-735. 1 Publication1
Mutagenesisi714V → A: Abolishes homooligomer formation; when associated with A-710; A-717; A-728; A-731 and A-735. 1 Publication1
Mutagenesisi717L → A: Abolishes homooligomer formation; when associated with A-710; A-714; A-728; A-731 and A-735. 1 Publication1
Mutagenesisi728I → A: Abolishes homooligomer formation; when associated with A-710; A-714; A-717; A-731 and A-735. 1 Publication1
Mutagenesisi731V → A: Abolishes homooligomer formation; when associated with A-710; A-714; A-717; A-728 and A-735. 1 Publication1
Mutagenesisi735L → A: Abolishes homooligomer formation; when associated with A-710; A-714; A-717; A-728 and A-731. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
9033

Open Targets

More...
OpenTargetsi
ENSG00000107593

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33344

Chemistry databases

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
505

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PKD2L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23821938

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001643601 – 805Polycystic kidney disease 2-like 1 proteinAdd BLAST805

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi38S-palmitoyl cysteine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi177N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi207N-linked (GlcNAc...) asparagineCombined sources1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi210 ↔ 223Combined sources1 Publication
Glycosylationi241N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi505N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Palmitoylation is important for expression at the cell membrane and for channel activity.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9P0L9

PeptideAtlas

More...
PeptideAtlasi
Q9P0L9

PRoteomics IDEntifications database

More...
PRIDEi
Q9P0L9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83574
83575 [Q9P0L9-2]
83576 [Q9P0L9-3]
83577 [Q9P0L9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P0L9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9P0L9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9P0L9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in taste bud cells in fungiform papillae (at protein level) (PubMed:19812697). Ubiquitous (PubMed:9748274). Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver (PubMed:9748274, PubMed:9878261). Isoform 4 appears to be expressed only in transformed lymphoblasts.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000107593 Expressed in 126 organ(s), highest expression level in spleen

CleanEx database of gene expression profiles

More...
CleanExi
HS_PKD2L1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P0L9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P0L9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022621

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer (PubMed:25820328, PubMed:30004384). Heterotetramer with either PKD1L1, PKD1L3 or PKD1; the heterotetrameric complex probably contains three PKD1L2 chains plus one chain from another family member (PubMed:25820328, PubMed:23212381). Interacts with PKD1L1, forming a ciliary calcium channel (PubMed:24336289). Interacts with PKD1L3, forming a cation channel that is activated by low extracellular pH (PubMed:25820328, PubMed:23212381). Interacts with PKD1 (By similarity). Interacts with RACK1; inhibits the channel activity possibly by impairing localization to the cell membrane (PubMed:22174419).By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
CLDN19Q8N6F1-23EBI-7956847,EBI-12256978

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114499, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q9P0L9, 2 interactors

Molecular INTeraction database

More...
MINTi
Q9P0L9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000325296

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1805
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9P0L9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9P0L9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini633 – 668EF-handSequence analysisAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni704 – 763Required for homooligomerizationAdd BLAST60

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili650 – 686Sequence analysisAdd BLAST37
Coiled coili700 – 7402 PublicationsAdd BLAST41

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The EF-hand domain probably mediates calcium-binding. It is not required for channel activation (PubMed:11959145).2 Publications
Interaction of the cytoplasmic N- and C-terminal domains is important for channel activity.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the polycystin family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3599 Eukaryota
ENOG410XTGE LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157274

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230858

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG014945

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P0L9

KEGG Orthology (KO)

More...
KOi
K04990

Identification of Orthologs from Complete Genome Data

More...
OMAi
FSTFVKC

Database of Orthologous Groups

More...
OrthoDBi
EOG091G034F

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P0L9

TreeFam database of animal gene trees

More...
TreeFami
TF316484

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.120.350, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013122 PKD1_2_channel
IPR003915 PKD_2
IPR027359 Volt_channel_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08016 PKD_channel, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01433 POLYCYSTIN2

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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.

« Hide
        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
Length:805
Mass (Da):91,982
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3714C07F4B71F9C6
GO
Isoform 2 (identifier: Q9P0L9-2) [UniParc]FASTAAdd to basket
Also known as: PKDLdel15, PCL-TS, Testis isoform

The sequence of this isoform differs from the canonical sequence as follows:
     751-760: KEQAIWKHPQ → RFPIKEKRKP
     761-805: Missing.

Show »
Length:760
Mass (Da):86,988
Checksum:i203D20F881C40055
GO
Isoform 3 (identifier: Q9P0L9-3) [UniParc]FASTAAdd to basket
Also known as: PKDLdel5

The sequence of this isoform differs from the canonical sequence as follows:
     245-319: Missing.

Show »
Length:730
Mass (Da):83,511
Checksum:i02ABA835A71B32AD
GO
Isoform 4 (identifier: Q9P0L9-4) [UniParc]FASTAAdd to basket
Also known as: PKDLdel456

The sequence of this isoform differs from the canonical sequence as follows:
     225-344: Missing.

Note: Unusual intron exon spliced junction.
Show »
Length:685
Mass (Da):78,520
Checksum:iE805D32F37E6F54E
GO
Isoform 5 (identifier: Q9P0L9-5) [UniParc]FASTAAdd to basket
Also known as: PCL-LV, Liver isoform

The sequence of this isoform differs from the canonical sequence as follows:
     638-666: Missing.

Show »
Length:776
Mass (Da):88,472
Checksum:i2EC2917E99DFF104
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PRD1E9PRD1_HUMAN
Polycystic kidney disease 2-like 1 ...
PKD2L1
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDN7H0YDN7_HUMAN
Polycystic kidney disease 2-like 1 ...
PKD2L1
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YET4H0YET4_HUMAN
Polycystic kidney disease 2-like 1 ...
PKD2L1
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti13Q → H in AAD41638 (PubMed:9748274).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050555278R → Q. Corresponds to variant dbSNP:rs17112895Ensembl.1
Natural variantiVAR_050556378R → W. Corresponds to variant dbSNP:rs7909153Ensembl.1
Natural variantiVAR_024569393V → I1 PublicationCorresponds to variant dbSNP:rs2278842Ensembl.1
Natural variantiVAR_024570681R → L. Corresponds to variant dbSNP:rs6584356Ensembl.1
Natural variantiVAR_050557788A → D. Corresponds to variant dbSNP:rs12782963Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_004728225 – 344Missing in isoform 4. 1 PublicationAdd BLAST120
Alternative sequenceiVSP_004729245 – 319Missing in isoform 3. CuratedAdd BLAST75
Alternative sequenceiVSP_053718638 – 666Missing in isoform 5. CuratedAdd BLAST29
Alternative sequenceiVSP_004730751 – 760KEQAIWKHPQ → RFPIKEKRKP in isoform 2. Curated10
Alternative sequenceiVSP_004731761 – 805Missing in isoform 2. CuratedAdd BLAST45

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF073481 mRNA Translation: AAD41638.1
AF153474
, AF153459, AF153460, AF153461, AF153462, AF153463, AF153464, AF153465, AF153466, AF153467, AF153468, AF153469, AF153470, AF153471, AF153472, AF153473 Genomic DNA Translation: AAF28108.1
AL139819 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49833.1
BC025665 mRNA Translation: AAH25665.1
AF094827 mRNA Translation: AAD08695.1
AF053316 mRNA Translation: AAD51859.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7492.1 [Q9P0L9-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001240766.1, NM_001253837.1
NP_057196.2, NM_016112.2 [Q9P0L9-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.159241

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000318222; ENSP00000325296; ENSG00000107593 [Q9P0L9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9033

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9033

UCSC genome browser

More...
UCSCi
uc001kqx.2 human [Q9P0L9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073481 mRNA Translation: AAD41638.1
AF153474
, AF153459, AF153460, AF153461, AF153462, AF153463, AF153464, AF153465, AF153466, AF153467, AF153468, AF153469, AF153470, AF153471, AF153472, AF153473 Genomic DNA Translation: AAF28108.1
AL139819 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49833.1
BC025665 mRNA Translation: AAH25665.1
AF094827 mRNA Translation: AAD08695.1
AF053316 mRNA Translation: AAD51859.1
CCDSiCCDS7492.1 [Q9P0L9-1]
RefSeqiNP_001240766.1, NM_001253837.1
NP_057196.2, NM_016112.2 [Q9P0L9-1]
UniGeneiHs.159241

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3TE3X-ray2.69A/B/C/D/E/F699-737[»]
4GIFX-ray2.80A699-743[»]
6DU8electron microscopy3.11A/B/C/D1-805[»]
ProteinModelPortaliQ9P0L9
SMRiQ9P0L9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114499, 2 interactors
IntActiQ9P0L9, 2 interactors
MINTiQ9P0L9
STRINGi9606.ENSP00000325296

Chemistry databases

GuidetoPHARMACOLOGYi505

Protein family/group databases

TCDBi1.A.5.1.3 the polycystin cation channel (pcc) family

PTM databases

iPTMnetiQ9P0L9
PhosphoSitePlusiQ9P0L9
SwissPalmiQ9P0L9

Polymorphism and mutation databases

BioMutaiPKD2L1
DMDMi23821938

Proteomic databases

PaxDbiQ9P0L9
PeptideAtlasiQ9P0L9
PRIDEiQ9P0L9
ProteomicsDBi83574
83575 [Q9P0L9-2]
83576 [Q9P0L9-3]
83577 [Q9P0L9-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9033
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318222; ENSP00000325296; ENSG00000107593 [Q9P0L9-1]
GeneIDi9033
KEGGihsa:9033
UCSCiuc001kqx.2 human [Q9P0L9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9033
DisGeNETi9033
EuPathDBiHostDB:ENSG00000107593.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PKD2L1
HGNCiHGNC:9011 PKD2L1
HPAiCAB022621
MIMi604532 gene
neXtProtiNX_Q9P0L9
OpenTargetsiENSG00000107593
PharmGKBiPA33344

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3599 Eukaryota
ENOG410XTGE LUCA
GeneTreeiENSGT00940000157274
HOGENOMiHOG000230858
HOVERGENiHBG014945
InParanoidiQ9P0L9
KOiK04990
OMAiFSTFVKC
OrthoDBiEOG091G034F
PhylomeDBiQ9P0L9
TreeFamiTF316484

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PKD2L1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9033

Protein Ontology

More...
PROi
PR:Q9P0L9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107593 Expressed in 126 organ(s), highest expression level in spleen
CleanExiHS_PKD2L1
ExpressionAtlasiQ9P0L9 baseline and differential
GenevisibleiQ9P0L9 HS

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR013122 PKD1_2_channel
IPR003915 PKD_2
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF08016 PKD_channel, 1 hit
PRINTSiPR01433 POLYCYSTIN2

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPK2L1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P0L9
Secondary accession number(s): O75972
, Q5W039, Q9UP35, Q9UPA2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 1, 2000
Last modified: December 5, 2018
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again