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Entry version 155 (22 Apr 2020)
Sequence version 1 (01 Jun 2002)
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Protein

Polycystic kidney disease protein 1-like 1

Gene

PKD1L1

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

Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.1 Publication

<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

  • calcium channel activity Source: UniProtKB

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%5Fand%5Ftaxonomy%5Fsection">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 protein 1-like 1
Alternative name(s):
PC1-like 1 protein
Polycystin-1L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PKD1L1
ORF Names:UNQ5785/PRO19563
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18053 PKD1L1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609721 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TDX9

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 1748ExtracellularSequence analysisAdd BLAST1748
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei1749 – 1769HelicalSequence analysisAdd BLAST21
Topological domaini1770 – 1956CytoplasmicSequence analysisAdd BLAST187
Transmembranei1957 – 1977HelicalSequence analysisAdd BLAST21
Topological domaini1978 – 1992ExtracellularSequence analysisAdd BLAST15
Transmembranei1993 – 2013HelicalSequence analysisAdd BLAST21
Topological domaini2014 – 2135CytoplasmicSequence analysisAdd BLAST122
Transmembranei2136 – 2156HelicalSequence analysisAdd BLAST21
Topological domaini2157 – 2174ExtracellularSequence analysisAdd BLAST18
Transmembranei2175 – 2195HelicalSequence analysisAdd BLAST21
Topological domaini2196 – 2281CytoplasmicSequence analysisAdd BLAST86
Transmembranei2282 – 2302HelicalSequence analysisAdd BLAST21
Topological domaini2303 – 2522ExtracellularSequence analysisAdd BLAST220
Transmembranei2523 – 2543HelicalSequence analysisAdd BLAST21
Topological domaini2544 – 2562CytoplasmicSequence analysisAdd BLAST19
Transmembranei2563 – 2583HelicalSequence analysisAdd BLAST21
Topological domaini2584 – 2616ExtracellularSequence analysisAdd BLAST33
Transmembranei2617 – 2637HelicalSequence analysisAdd BLAST21
Topological domaini2638 – 2646CytoplasmicSequence analysis9
Transmembranei2647 – 2667HelicalSequence analysisAdd BLAST21
Topological domaini2668 – 2711ExtracellularSequence analysisAdd BLAST44
Transmembranei2712 – 2732HelicalSequence analysisAdd BLAST21
Topological domaini2733 – 2849CytoplasmicSequence analysisAdd BLAST117

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Heterotaxy, visceral, 8, autosomal (HTX8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive.
Related information in OMIM
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_0778791691C → S in HTX8. 1 PublicationCorresponds to variant dbSNP:rs886037834EnsemblClinVar.1

Keywords - Diseasei

Heterotaxy

Organism-specific databases

DisGeNET

More...
DisGeNETi
168507

MalaCards human disease database

More...
MalaCardsi
PKD1L1
MIMi617205 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158683

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
157769 Situs ambiguus
101063 Situs inversus totalis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38282

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TDX9 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PKD1L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23821932

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001643581 – 2849Polycystic kidney disease protein 1-like 1Add BLAST2849

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi8N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi295N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi376N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi447N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi482N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi514N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi605N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi657N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi751N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi875N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi926N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi937N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1233N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1301N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1306N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1572N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1681N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1716N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2426N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TDX9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TDX9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TDX9

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

More...
PaxDbi
Q8TDX9

PeptideAtlas

More...
PeptideAtlasi
Q8TDX9

PRoteomics IDEntifications database

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PRIDEi
Q8TDX9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
74366 [Q8TDX9-1]
74367 [Q8TDX9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TDX9

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

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PhosphoSitePlusi
Q8TDX9

<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 testis and in fetal and adult heart.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158683 Expressed in heart left ventricle and 80 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8TDX9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TDX9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000158683 Tissue enhanced (lung, tongue)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel.

Interacts with PKD2L1; to form ciliary calcium channel.

Interacts with PKD2.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127967, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000289672

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TDX9 protein

<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%5Fand%5Fdomains%5Fsection">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>Domaini508 – 590PKD 1PROSITE-ProRule annotationAdd BLAST83
Domaini592 – 673PKD 2PROSITE-ProRule annotationAdd BLAST82
Domaini674 – 1571REJPROSITE-ProRule annotationAdd BLAST898
Domaini1688 – 1734GPSAdd BLAST47
Domaini1796 – 1913PLATPROSITE-ProRule annotationAdd BLAST118

<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

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IQ5F Eukaryota
ENOG410ZBZ7 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162104

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_000971_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TDX9

KEGG Orthology (KO)

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KOi
K04987

Identification of Orthologs from Complete Genome Data

More...
OMAi
GWFFPAQ

Database of Orthologous Groups

More...
OrthoDBi
1276906at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TDX9

TreeFam database of animal gene trees

More...
TreeFami
TF316484

Family and domain databases

Conserved Domains Database

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CDDi
cd01752 PLAT_polycystin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR002859 PKD/REJ-like
IPR013122 PKD1_2_channel
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
IPR042060 PLAT_polycystin1
IPR014010 REJ_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00801 PKD, 1 hit
PF08016 PKD_channel, 1 hit
PF01477 PLAT, 1 hit
PF02010 REJ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00308 LH2, 1 hit
SM00089 PKD, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49299 SSF49299, 1 hit
SSF49723 SSF49723, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50093 PKD, 1 hit
PS50095 PLAT, 1 hit
PS51111 REJ, 1 hit

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TDX9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAEEAAQNIS DDQERCLQAA CCLSFGGELS VSTDKSWGLH LCSCSPPGGG
60 70 80 90 100
LWVEVYANHV LLMSDGKCGC PWCALNGKAE DRESQSPSSS ASRQKNIWKT
110 120 130 140 150
TSEAALSVVN EKTQAVVNEK TQAPLDCDNS ADRIPHKPFI IIARAWSSGG
160 170 180 190 200
PRFHHRRLCA TGTADSTFSA LLQLQGTTSA AAPCSLKMEA SCCVLRLLCC
210 220 230 240 250
AEDVATGLLP GTVTMETPTK VARPTQTSSQ RVPLWPISHF PTSPRSSHGL
260 270 280 290 300
PPGIPRTPSF TASQSGSEIL YPPTQHPPVA ILARNSDNFM NPVLNCSLEV
310 320 330 340 350
EARAPPNLGF RVHMASGEAL CLMMDFGDSS GVEMRLHNMS EAMAVTAYHQ
360 370 380 390 400
YSKGIFFHLL HFQLDMSTYK EAETQNTTLN VYLCQSENSC LEDSDPSNLG
410 420 430 440 450
YELISAFVTK GVYMLKAVIY NEFHGTEVEL GPYYVEIGHE AVSAFMNSSS
460 470 480 490 500
VHEDEVLVFA DSQVNQKSTV VIHHFPSIPS YNVSFISQTQ VGDSQAWHSM
510 520 530 540 550
TVWYKMQSVS VYTNGTVFAT DTDITFTAVT KETIPLEFEW YFGEDPPVRT
560 570 580 590 600
TSRSIKKRLS IPQWYRVMVK ASNRMSSVVS EPHVIRVQKK IVANRLTSPS
610 620 630 640 650
SALVNASVAF ECWINFGTDV AYLWDFGDGT VSLGSSSSSH VYSREGEFTV
660 670 680 690 700
EVLAFNNVSA STLRQQLFIV CEPCQPPLVK NMGPGKVQIW RSQPVRLGVT
710 720 730 740 750
FEAAVFCDIS QGLSYTWNLM DSEGLPVSLP AAVDTHRQTL ILPSHTLEYG
760 770 780 790 800
NYTALAKVQI EGSVVYSNYC VGLEVRAQAP VSVISEGTHL FFSRTTSSPI
810 820 830 840 850
VLRGTQSFDP DDPGATLRYH WECATAGSPA HPCFDSSTAH QLDAAAPTVS
860 870 880 890 900
FEAQWLSDSY DQFLVMLRVS SGGRNSSETR VFLSPYPDSA FRFVHISWVS
910 920 930 940 950
FKDTFVNWND ELSLQAMCED CSEIPNLSYS WDLFLVNATE KNRIEVPFCR
960 970 980 990 1000
VVGLLGSLGL GAISESSQLN LLPTEPGTAD PDATTTPFSR EPSPVTLGQP
1010 1020 1030 1040 1050
ATSAPRGTPT EPMTGVYWIP PAGDSAVLGE APEEGSLDLE PGPQSKGSLM
1060 1070 1080 1090 1100
TGRSERSQPT HSPDPHLSDF EAYYSDIQEA IPSGGRQPAK DTSFPGSGPS
1110 1120 1130 1140 1150
LSAEESPGDG DNLVDPSLSA GRAEPVLMID WPKALLGRAV FQGYSSSGIT
1160 1170 1180 1190 1200
EQTVTIKPYS LSSGETYVLQ VSVASKHGLL GKAQLYLTVN PAPRDMACQV
1210 1220 1230 1240 1250
QPHHGLEAHT VFSVFCMSGK PDFHYEFSYQ IGNTSKHTLY HGRDTQYYFV
1260 1270 1280 1290 1300
LPAGEHLDNY KVMVSTEITD GKGSKVQPCT VVVTVLPRYH GNDCLGEDLY
1310 1320 1330 1340 1350
NSSLKNLSTL QLMGSYTEIR NYITVITRIL SRLSKEDKTA SCNQWSRIQD
1360 1370 1380 1390 1400
ALISSVCRLA FVDQEEMIGS VLMLRDLVSF SNKLGFMSAV LILKYTRALL
1410 1420 1430 1440 1450
AQGQFSGPFV IDKGVRLELI GLISRVWEVS EQENSKEEVY RHEEGITVIS
1460 1470 1480 1490 1500
DLLLGCLSLN HVSTGQMEFR TLLHYNLQSS VQSLGSVQVH LPGDLAGHSP
1510 1520 1530 1540 1550
AGAETQSPCY ISQLILFKKN PYPGSQAPGQ IGGVVGLNLY TCSSRRPINR
1560 1570 1580 1590 1600
QWLRKPVMVE FGEEDGLDNR RNKTTFVLLR DKVNLHQFTE LSENPQESLQ
1610 1620 1630 1640 1650
IEIEFSKPVT RAFPVMLLVR FSEKPTPSDF LVKQIYFWDE SIVQIYIPAA
1660 1670 1680 1690 1700
SQKDASVGYL SLLDADYDRK PPNRYLAKAV NYTVHFQWIR CLFWDKREWK
1710 1720 1730 1740 1750
SERFSPQPGT SPEKVNCSYH RLAAFALLRR KLKASFEVSD ISKLQSHPEN
1760 1770 1780 1790 1800
LLPSIFIMGS VILYGFLVAK SRQVDHHEKK KAGYIFLQEA SLPGHQLYAV
1810 1820 1830 1840 1850
VIDTGFRAPA RLTSKVYIVL CGDNGLSETK ELSCPEKPLF ERNSRHTFIL
1860 1870 1880 1890 1900
SAPAQLGLLR KIRLWHDSRG PSPGWFISHV MVKELHTGQG WFFPAQCWLS
1910 1920 1930 1940 1950
AGRHDGRVER ELTCLQGGLG FRKLFYCKFT EYLEDFHVWL SVYSRPSSSR
1960 1970 1980 1990 2000
YLHTPRLTVS FSLLCVYACL TALVAAGGQE QPHLDVSPTL GSFRVGLLCT
2010 2020 2030 2040 2050
LLASPGAQLL SLLFRLSKEA PGSARVEPHS PLRGGAQTEA PHGPNSWGRI
2060 2070 2080 2090 2100
PDAQEPRKQP ASAILSGSGR AQRKAASDNG TACPAPKLQV HGADHSRTSL
2110 2120 2130 2140 2150
MGKSHCCPPH TQAPSSGLEG LMPQWSRALQ PWWSSAVWAI CGTASLACSL
2160 2170 2180 2190 2200
GTGFLAYRFG QEQCVQWLHL LSLSVVCCIF ITQPLMVCLM ALGFAWKRRA
2210 2220 2230 2240 2250
DNHFFTESLC EATRDLDSEL AERSWTRLPF SSSCSIPDCA GEVEKVLAAR
2260 2270 2280 2290 2300
QQARHLRWAH PPSKAQLRGT RQRMRRESRT RAALRDISMD ILMLLLLLCV
2310 2320 2330 2340 2350
IYGRFSQDEY SLNQAIRKEF TRNARNCLGG LRNIADWWDW SLTTLLDGLY
2360 2370 2380 2390 2400
PGGTPSARVP GAQPGALGGK CYLIGSSVIR QLKVFPRHLC KPPRPFSALI
2410 2420 2430 2440 2450
EDSIPTCSPE VGGPENPYLI DPENQNVTLN GPGGCGTRED CVLSLGRTRT
2460 2470 2480 2490 2500
EAHTALSRLR ASMWIDRSTR AVSVHFTLYN PPTQLFTSVS LRVEILPTGS
2510 2520 2530 2540 2550
LVPSSLVESF SIFRSDSALQ YHLMLPQLVF LALSLIHLCV QLYRMMDKGV
2560 2570 2580 2590 2600
LSYWRKPRNW LELSVVGVSL TYYAVSGHLV TLAGDVTNQF HRGLCRAFMD
2610 2620 2630 2640 2650
LTLMASWNQR ARWLRGILLF LFTLKCVYLP GIQNTMASCS SMMRHSLPSI
2660 2670 2680 2690 2700
FVAGLVGALM LAALSHLHRF LLSMWVLPPG TFTDAFPGLL FHFPRRSQKD
2710 2720 2730 2740 2750
CLLGLSKSDQ RAMACYFGIL LIVSATLCFG MLRGFLMTLP QKRKSFQSKS
2760 2770 2780 2790 2800
FVRLKDVTAY MWEKVLTFLR LETPKLEEAE MVENHNYYLD EFANLLDELL
2810 2820 2830 2840
MKINGLSDSL QLPLLEKTSN NTGEARTEES PLVDISSYQA AEPADIKDF
Length:2,849
Mass (Da):315,435
Last modified:June 1, 2002 - 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:iA0E60E88E7DDAA75
GO
Isoform 2 (identifier: Q8TDX9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2563-2573: LSVVGVSLTYY → VASLVSFSFEK
     2574-2849: Missing.

Show »
Length:2,573
Mass (Da):284,308
Checksum:i2009B3589823C438
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C083H7C083_HUMAN
Polycystic kidney disease protein 1...
PKD1L1
164Annotation 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>
A0A3B3IRH7A0A3B3IRH7_HUMAN
Polycystic kidney disease protein 1...
PKD1L1
436Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAQ89117 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024566312V → F. Corresponds to variant dbSNP:rs2686817Ensembl.1
Natural variantiVAR_050552812D → N. Corresponds to variant dbSNP:rs17131915Ensembl.1
Natural variantiVAR_050553879T → A. Corresponds to variant dbSNP:rs11972142Ensembl.1
Natural variantiVAR_061522894V → I. Corresponds to variant dbSNP:rs56100904Ensembl.1
Natural variantiVAR_065825906V → I1 PublicationCorresponds to variant dbSNP:rs141681038Ensembl.1
Natural variantiVAR_0245671053R → P. Corresponds to variant dbSNP:rs10274334Ensembl.1
Natural variantiVAR_0245681272K → E. Corresponds to variant dbSNP:rs1470859Ensembl.1
Natural variantiVAR_0778791691C → S in HTX8. 1 PublicationCorresponds to variant dbSNP:rs886037834EnsemblClinVar.1
Natural variantiVAR_0615232057R → H. Corresponds to variant dbSNP:rs17131834Ensembl.1
Natural variantiVAR_0219442410E → K. Corresponds to variant dbSNP:rs2290386Ensembl.1
Natural variantiVAR_0615242603L → F. Corresponds to variant dbSNP:rs59848490Ensembl.1
Natural variantiVAR_0505542685A → T. Corresponds to variant dbSNP:rs13231277Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0132152563 – 2573LSVVGVSLTYY → VASLVSFSFEK in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_0132162574 – 2849Missing in isoform 2. 1 PublicationAdd BLAST276

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
AB061683 mRNA Translation: BAB85807.1
AY358757 mRNA Translation: AAQ89117.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34633.1 [Q8TDX9-1]

NCBI Reference Sequences

More...
RefSeqi
NP_612152.1, NM_138295.4 [Q8TDX9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000289672; ENSP00000289672; ENSG00000158683 [Q8TDX9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
168507

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:168507

UCSC genome browser

More...
UCSCi
uc003tny.3 human [Q8TDX9-1]

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
AB061683 mRNA Translation: BAB85807.1
AY358757 mRNA Translation: AAQ89117.1 Different initiation.
CCDSiCCDS34633.1 [Q8TDX9-1]
RefSeqiNP_612152.1, NM_138295.4 [Q8TDX9-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi127967, 3 interactors
STRINGi9606.ENSP00000289672

Protein family/group databases

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

PTM databases

iPTMnetiQ8TDX9
PhosphoSitePlusiQ8TDX9

Polymorphism and mutation databases

BioMutaiPKD1L1
DMDMi23821932

Proteomic databases

EPDiQ8TDX9
jPOSTiQ8TDX9
MassIVEiQ8TDX9
PaxDbiQ8TDX9
PeptideAtlasiQ8TDX9
PRIDEiQ8TDX9
ProteomicsDBi74366 [Q8TDX9-1]
74367 [Q8TDX9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
13627 54 antibodies

Genome annotation databases

EnsembliENST00000289672; ENSP00000289672; ENSG00000158683 [Q8TDX9-1]
GeneIDi168507
KEGGihsa:168507
UCSCiuc003tny.3 human [Q8TDX9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
168507
DisGeNETi168507

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PKD1L1
HGNCiHGNC:18053 PKD1L1
HPAiENSG00000158683 Tissue enhanced (lung, tongue)
MalaCardsiPKD1L1
MIMi609721 gene
617205 phenotype
neXtProtiNX_Q8TDX9
OpenTargetsiENSG00000158683
Orphaneti157769 Situs ambiguus
101063 Situs inversus totalis
PharmGKBiPA38282

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IQ5F Eukaryota
ENOG410ZBZ7 LUCA
GeneTreeiENSGT00940000162104
HOGENOMiCLU_000971_0_0_1
InParanoidiQ8TDX9
KOiK04987
OMAiGWFFPAQ
OrthoDBi1276906at2759
PhylomeDBiQ8TDX9
TreeFamiTF316484

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PKD1L1 human

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

More...
GenomeRNAii
168507
PharosiQ8TDX9 Tdark

Protein Ontology

More...
PROi
PR:Q8TDX9
RNActiQ8TDX9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158683 Expressed in heart left ventricle and 80 other tissues
ExpressionAtlasiQ8TDX9 baseline and differential
GenevisibleiQ8TDX9 HS

Family and domain databases

CDDicd01752 PLAT_polycystin, 1 hit
Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR022409 PKD/Chitinase_dom
IPR002859 PKD/REJ-like
IPR013122 PKD1_2_channel
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
IPR001024 PLAT/LH2_dom
IPR036392 PLAT/LH2_dom_sf
IPR042060 PLAT_polycystin1
IPR014010 REJ_dom
PfamiView protein in Pfam
PF00801 PKD, 1 hit
PF08016 PKD_channel, 1 hit
PF01477 PLAT, 1 hit
PF02010 REJ, 1 hit
SMARTiView protein in SMART
SM00308 LH2, 1 hit
SM00089 PKD, 2 hits
SUPFAMiSSF49299 SSF49299, 1 hit
SSF49723 SSF49723, 1 hit
PROSITEiView protein in PROSITE
PS50093 PKD, 1 hit
PS50095 PLAT, 1 hit
PS51111 REJ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiPK1L1_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: Q8TDX9
Secondary accession number(s): Q6UWK1
<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%5Fand%5Fisoforms">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: June 1, 2002
Last modified: April 22, 2020
This is version 155 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

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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