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UniProtKB - P98161 (PKD1_HUMAN)

Entry version 247 (02 Jun 2021)
Sequence version 3 (23 Mar 2010)
Previous versions | rss
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Protein

Polycystin-1

Gene

PKD1

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 heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281).

Both PKD1 and PKD2 are required for channel activity (PubMed:27214281).

Involved in renal tubulogenesis (PubMed:12482949).

Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity).

Acts as a regulator of cilium length, together with PKD2 (By similarity).

The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity).

The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity).

May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.

By similarity2 Publications

Caution

Variant Cys-2379 has been originally described as a benign polymorphism (PubMed:10854095). However, it is a likely pathogenic mutation (PubMed:22508176).2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Biological processWnt signaling pathway
LigandLectin

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P98161

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5620916, VxPx cargo-targeting to cilium

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P98161

SIGNOR Signaling Network Open Resource

More...SIGNORi		P98161

Protein family/group databases

MEROPS protease database

More...MEROPSi		P02.036

Transport Classification Database

More...TCDBi		1.A.5.1.1, 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:
Polycystin-1Curated
Short name:
PC1
Alternative name(s):
Autosomal dominant polycystic kidney disease 1 protein
<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:PKD1Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9008, PKD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601313, gene+phenotype

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P98161

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000008710.17

<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

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 domaini24 – 3074Extracellular1 PublicationAdd BLAST3051
<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>Transmembranei3075 – 3095Helical1 PublicationAdd BLAST21
Topological domaini3096 – 3277Cytoplasmic1 PublicationAdd BLAST182
Transmembranei3278 – 3298Helical1 PublicationAdd BLAST21
Topological domaini3299 – 3323Extracellular1 PublicationAdd BLAST25
Transmembranei3324 – 3344Helical1 PublicationAdd BLAST21
Topological domaini3345 – 3559Cytoplasmic1 PublicationAdd BLAST215
Transmembranei3560 – 3580Helical1 PublicationAdd BLAST21
Topological domaini3581 – 3582Extracellular1 Publication2
Transmembranei3583 – 3603Helical1 PublicationAdd BLAST21
Topological domaini3604 – 3665Cytoplasmic1 PublicationAdd BLAST62
Transmembranei3666 – 3686Helical1 PublicationAdd BLAST21
Topological domaini3687 – 3901Extracellular1 PublicationAdd BLAST215
Transmembranei3902 – 3922Helical1 PublicationAdd BLAST21
Topological domaini3923 – 3935Cytoplasmic1 PublicationAdd BLAST13
Transmembranei3936 – 3956Helical1 PublicationAdd BLAST21
Topological domaini3957 – 3984Extracellular1 PublicationAdd BLAST28
Transmembranei3985 – 4005Helical1 PublicationAdd BLAST21
Topological domaini4006 – 4027Cytoplasmic1 PublicationAdd BLAST22
Transmembranei4028 – 4048Helical1 PublicationAdd BLAST21
Topological domaini4049 – 4090Extracellular1 PublicationAdd BLAST42
Transmembranei4091 – 4110Helical1 PublicationAdd BLAST20
Topological domaini4111 – 4303Cytoplasmic1 PublicationAdd BLAST193

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Golgi apparatus, 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

Polycystic kidney disease 1 with or without polycystic liver disease (PKD1)34 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm.
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_01103013L → Q in PKD1. 1 Publication1
Natural variantiVAR_05876061P → L in PKD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs886038369EnsemblClinVar.1
Natural variantiVAR_01103175S → F in PKD1. 1 Publication1
Natural variantiVAR_06438097D → G in PKD1. 1 Publication1
Natural variantiVAR_05876299S → I in PKD1; unknown pathological significance; nearly abolishes expression at the cell membrane. 2 PublicationsCorresponds to variant dbSNP:rs1567219544EnsemblClinVar.1
Natural variantiVAR_011032139W → C in PKD1. 1 Publication1
Natural variantiVAR_058763164Q → R in PKD1. 1 Publication1
Natural variantiVAR_058764210C → G in PKD1. 1 Publication1
Natural variantiVAR_010085324R → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs199476099EnsemblClinVar.1
Natural variantiVAR_068024325Y → C in PKD1. 1 Publication1
Natural variantiVAR_058765381G → C in PKD1. 1 Publication1
Natural variantiVAR_064381436C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555458892EnsemblClinVar.1
Natural variantiVAR_064382442A → P in PKD1. 1 Publication1
Natural variantiVAR_058766508C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs58598099EnsemblClinVar.1
Natural variantiVAR_058768594F → Y in PKD1. 1 Publication1
Natural variantiVAR_068025611R → W in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555458413EnsemblClinVar.1
Natural variantiVAR_058769690V → D in PKD1. 1 Publication1
Natural variantiVAR_068026698Y → D in PKD1. 1 Publication1
Natural variantiVAR_064383727L → P in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1616940EnsemblClinVar.1
Natural variantiVAR_064384727L → R in PKD1. 1 Publication1
Natural variantiVAR_010086845L → S in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs199476100EnsemblClinVar.1
Natural variantiVAR_012453967W → R in PKD1. 1 Publication1
Natural variantiVAR_058772987Q → H in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1266492292Ensembl.1
Natural variantiVAR_0110331166G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs573566419EnsemblClinVar.1
Natural variantiVAR_0680271206V → G in PKD1. 1 Publication1
Natural variantiVAR_0587741240Missing in PKD1. 1 Publication1
Natural variantiVAR_0587751242T → M in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1033550407Ensembl.1
Natural variantiVAR_0587761340R → W in PKD1; likely benign variant. 1 PublicationCorresponds to variant dbSNP:rs143690392EnsemblClinVar.1
Natural variantiVAR_0587791667T → P in PKD1. 1 Publication1
Natural variantiVAR_0587811811E → K in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs778028644Ensembl.1
Natural variantiVAR_0110341956V → E in PKD1. 1 Publication1
Natural variantiVAR_0110351992 – 1993FT → L in PKD1. 1 Publication2
Natural variantiVAR_0587862083T → I in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1383930225Ensembl.1
Natural variantiVAR_0587872092Y → C in PKD1. 2 Publications1
Natural variantiVAR_0587882185Y → D in PKD1. 1 Publication1
Natural variantiVAR_0587892200R → C in PKD1; likely benign variant. 2 PublicationsCorresponds to variant dbSNP:rs140869992EnsemblClinVar.1
Natural variantiVAR_0110372220 – 2224Missing in PKD1. 1 Publication5
Natural variantiVAR_0110382250T → M in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139971481EnsemblClinVar.1
Natural variantiVAR_0587902260Missing in PKD1. 2 Publications1
Natural variantiVAR_0110392329R → W in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200433577Ensembl.1
Natural variantiVAR_0110402336Y → D in PKD1. 1 Publication1
Natural variantiVAR_0587912370C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1567187445EnsemblClinVar.1
Natural variantiVAR_0587922373C → Y in PKD1. 1 Publication1
Natural variantiVAR_0110412379Y → C in PKD1. 2 Publications1
Natural variantiVAR_0643852391G → D in PKD1. 1 Publication1
Natural variantiVAR_0124542392R → P in PKD1. 1 Publication1
Natural variantiVAR_0110422408R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs538769374Ensembl.1
Natural variantiVAR_0587932421Missing in PKD1. 1 Publication1
Natural variantiVAR_0587942422T → K in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555453210EnsemblClinVar.1
Natural variantiVAR_0124552423S → F in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555453207EnsemblClinVar.1
Natural variantiVAR_0643862434R → W in PKD1. 1 PublicationCorresponds to variant dbSNP:rs151257298Ensembl.1
Natural variantiVAR_0110432443G → GG in PKD1. 1
Natural variantiVAR_0124562471P → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1161298621Ensembl.1
Natural variantiVAR_0124572519Q → L in PKD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0643872546H → Y in PKD1. 1 PublicationCorresponds to variant dbSNP:rs200037070EnsemblClinVar.1
Natural variantiVAR_0643882569S → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs758896945Ensembl.1
Natural variantiVAR_0124592579Missing in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748240352Ensembl.1
Natural variantiVAR_0124612613Missing in PKD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0124622638H → R in PKD1; benign variant. 6 PublicationsCorresponds to variant dbSNP:rs9936785EnsemblClinVar.1
Natural variantiVAR_0643892646I → T in PKD1. 1 PublicationCorresponds to variant dbSNP:rs374500158Ensembl.1
Natural variantiVAR_0124632649T → I in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1490043027EnsemblClinVar.1
Natural variantiVAR_0124642696L → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs201238819EnsemblClinVar.1
Natural variantiVAR_0110492752A → D in PKD1. 1 Publication1
Natural variantiVAR_0055352763L → V in PKD1. 1 Publication1
Natural variantiVAR_0110502765R → RILMR in PKD1. 1
Natural variantiVAR_0680282767R → C in PKD1. 1 Publication1
Natural variantiVAR_0110522768V → M in PKD1; associated with S-2858. 1 PublicationCorresponds to variant dbSNP:rs1456510041EnsemblClinVar.1
Natural variantiVAR_0110532771E → K in PKD1; does not undergo autoproteolytic cleavage. 4 PublicationsCorresponds to variant dbSNP:rs1057518897EnsemblClinVar.1
Natural variantiVAR_0587962785G → D in PKD1. 1 Publication1
Natural variantiVAR_0587972802P → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs534112936EnsemblClinVar.1
Natural variantiVAR_0110552814G → R in PKD1; likely benign variant. 4 PublicationsCorresponds to variant dbSNP:rs149151043EnsemblClinVar.1
Natural variantiVAR_0110562816L → P in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1567177684EnsemblClinVar.1
Natural variantiVAR_0055382826I → T in PKD1. 1 Publication1
Natural variantiVAR_0110572858G → S in PKD1; associated with M-2768. 1 PublicationCorresponds to variant dbSNP:rs755522953Ensembl.1
Natural variantiVAR_0643902889S → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs752447240Ensembl.1
Natural variantiVAR_0110602921H → P in PKD1; does not undergo autoproteolytic cleavage. 2 Publications1
Natural variantiVAR_0124662978Missing in PKD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0124672985R → G in PKD1. 1 PublicationCorresponds to variant dbSNP:rs373952574Ensembl.1
Natural variantiVAR_0100892993L → P in PKD1; does not undergo autoproteolytic cleavage. 2 PublicationsCorresponds to variant dbSNP:rs1555450487EnsemblClinVar.1
Natural variantiVAR_0680292995L → R in PKD1. 1 Publication1
Natural variantiVAR_0055393008V → L in PKD1. 1 Publication1
Natural variantiVAR_0110623012 – 3017Missing in PKD1. 1 Publication6
Natural variantiVAR_0100903016Q → R in PKD1; does not undergo autoproteolytic cleavage. 2 Publications1
Natural variantiVAR_0588013027 – 3039Missing in PKD1. 1 PublicationAdd BLAST13
Natural variantiVAR_0124683039R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs200522524Ensembl.1
Natural variantiVAR_0110633066F → L in PKD1. 8 PublicationsCorresponds to variant dbSNP:rs9925969EnsemblClinVar.1
Natural variantiVAR_0588033138V → M in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1358566538Ensembl.1
Natural variantiVAR_0643913154L → P in PKD1. 1 Publication1
Natural variantiVAR_0588043167I → F in PKD1. 1 PublicationCorresponds to variant dbSNP:rs139945204EnsemblClinVar.1
Natural variantiVAR_0588053188Missing in PKD1. 1 Publication1
Natural variantiVAR_0138383247R → H in PKD1. 1 PublicationCorresponds to variant dbSNP:rs140791671Ensembl.1
Natural variantiVAR_0124693285V → I in PKD1. 1 PublicationCorresponds to variant dbSNP:rs201780393EnsemblClinVar.1
Natural variantiVAR_0588063355P → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs781263445Ensembl.1
Natural variantiVAR_0055413375V → M in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs371283948Ensembl.1
Natural variantiVAR_0138393382T → M in PKD1. 1 PublicationCorresponds to variant dbSNP:rs776463508Ensembl.1
Natural variantiVAR_0100923511L → V in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141946034EnsemblClinVar.1
Natural variantiVAR_0124713560G → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs79000340EnsemblClinVar.1
Natural variantiVAR_0588083602G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs781492044EnsemblClinVar.1
Natural variantiVAR_0643923603W → R in PKD1. 1 Publication1
Natural variantiVAR_0055423632E → D in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1416373452Ensembl.1
Natural variantiVAR_0588093649P → L in PKD1. 1 Publication1
Natural variantiVAR_0680303651G → S in PKD1. 1 Publication1
Natural variantiVAR_0055433678M → T in PKD1. 2 Publications1
Natural variantiVAR_0588103682L → P in PKD1. 1 Publication1
Natural variantiVAR_0110673719R → Q in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1555446576EnsemblClinVar.1
Natural variantiVAR_0588113726W → S in PKD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0055443748 – 3752Missing in PKD1. 2 Publications5
Natural variantiVAR_0643933750R → Q in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1327414405EnsemblClinVar.1
Natural variantiVAR_0588123751Q → R in PKD1. 1 Publication1
Natural variantiVAR_0110683753R → W in PKD1. 3 PublicationsCorresponds to variant dbSNP:rs1167476946EnsemblClinVar.1
Natural variantiVAR_0110693815D → N in PKD1. 1 Publication1
Natural variantiVAR_0110703852L → P in PKD1. 2 Publications1
Natural variantiVAR_0588133954A → P in PKD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0100943996F → FLLF in PKD1. 1
Natural variantiVAR_0055454032G → D in PKD1. 1 PublicationCorresponds to variant dbSNP:rs142768096Ensembl.1
Natural variantiVAR_0110714132Missing in PKD1. 1 Publication1
Natural variantiVAR_0100964136R → G in PKD1. 1 Publication1
Natural variantiVAR_0680314150R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1282668884EnsemblClinVar.1
Natural variantiVAR_0100974154R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs115538130EnsemblClinVar.1
Natural variantiVAR_0588184155F → V in PKD1. 1 Publication1
Natural variantiVAR_0100994225Q → P in PKD1. 1 Publication1
Natural variantiVAR_0588194255P → S in PKD1. 1 Publication1
Natural variantiVAR_0101004276R → W in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs114251396EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi3049T → C or S: Does not affect auto-cleavage. 1 Publication1
Mutagenesisi3049T → G, R or V: Does not undergo auto-cleavage. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		5310

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PKD1

MalaCards human disease database

More...MalaCardsi		PKD1
MIMi173900, phenotype
601313, gene+phenotype

Open Targets

More...OpenTargetsi		ENSG00000008710

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

More...Orphaneti		730, Autosomal dominant polycystic kidney disease
88924, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35521

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P98161, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5772

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PKD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		292495072

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<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_000002429824 – 4303Polycystin-1Add BLAST4280

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>Glycosylationi50N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi116N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi187N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi436 ↔ 530By similarity
Disulfide bondi508 ↔ 522By similarity
Glycosylationi621N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi632N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi640 ↔ 653By similarity
Disulfide bondi647 ↔ 665By similarity
Disulfide bondi660 ↔ 669By similarity
Glycosylationi746N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi810N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi841N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi854N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi890N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi921N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1004N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1010N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1034N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1072N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1113N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1178N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1194N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1240N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1269N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1336N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1348N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1382N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1450N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1455N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1474N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1518N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1541N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1554N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1563N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1647N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1661N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1733N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1791N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1834N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1867N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1880N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1991N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2050N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2074N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2125N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2248N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2353N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2395N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2412N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2567N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2578N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2645N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2718N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2754N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2841N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2878N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2925N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2956N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2994N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3738N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3790N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3845N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei4166Phosphoserine; by PRKX; in vitro1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei3048 – 3049Cleavage; by autolysis2 Publications2

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P98161

MaxQB - The MaxQuant DataBase

More...MaxQBi		P98161

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

More...PaxDbi		P98161

PeptideAtlas

More...PeptideAtlasi		P98161

PRoteomics IDEntifications database

More...PRIDEi		P98161

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57797 [P98161-1]
57798 [P98161-2]
57799 [P98161-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P98161, 60 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P98161

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

More...PhosphoSitePlusi		P98161

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000008710, Expressed in right hemisphere of cerebellum and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P98161, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P98161, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000008710, Tissue enhanced (brain)

<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

Interacts with PKD2; the interaction is required for ciliary localization (PubMed:20881056).

Component of a heterotetrameric channel complex with PKD2; the tetramer contains one PKD1 chain and three PKD2 chains (PubMed:30093605).

Interacts with PKD2L1 (By similarity).

Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165).

Interacts (via extracellular domain) with WNT3A, WNT4, WNT5A and WNT9B (PubMed:27214281).

Interacts with DVL1 and DVL2 (PubMed:27214281).

Interacts with NPHP1 (via SH3 domain) (PubMed:20856870).

Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912).

Interacts with RGS7 (PubMed:10339594).

By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111327, 39 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-4001, PKD1-PKD2 Polycystin complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P98161

Database of interacting proteins

More...DIPi		DIP-52317N

Protein interaction database and analysis system

More...IntActi		P98161, 12 interactors

Molecular INTeraction database

More...MINTi		P98161

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262304

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P98161

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P98161, protein

<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

14303
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P98161

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P98161

<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>Domaini24 – 67LRRNTAdd BLAST44
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati68 – 91LRR 1Add BLAST24
Repeati92 – 113LRR 2Add BLAST22
Domaini125 – 178LRRCTAdd BLAST54
Domaini177 – 271WSCPROSITE-ProRule annotationAdd BLAST95
Domaini272 – 359PKD 1PROSITE-ProRule annotationAdd BLAST88
Domaini415 – 531C-type lectinPROSITE-ProRule annotationAdd BLAST117
Domaini638 – 671LDL-receptor class A; atypicalAdd BLAST34
Domaini743 – 817PKD 2PROSITE-ProRule annotationAdd BLAST75
Domaini855 – 928PKD 3PROSITE-ProRule annotationAdd BLAST74
Domaini935 – 1020PKD 4PROSITE-ProRule annotationAdd BLAST86
Domaini1023 – 1129PKD 5PROSITE-ProRule annotationAdd BLAST107
Domaini1127 – 1215PKD 6PROSITE-ProRule annotationAdd BLAST89
Domaini1213 – 1298PKD 7PROSITE-ProRule annotationAdd BLAST86
Domaini1294 – 1383PKD 8PROSITE-ProRule annotationAdd BLAST90
Domaini1382 – 1469PKD 9PROSITE-ProRule annotationAdd BLAST88
Domaini1468 – 1551PKD 10PROSITE-ProRule annotationAdd BLAST84
Domaini1550 – 1635PKD 11PROSITE-ProRule annotationAdd BLAST86
Domaini1634 – 1721PKD 12PROSITE-ProRule annotationAdd BLAST88
Domaini1719 – 1805PKD 13PROSITE-ProRule annotationAdd BLAST87
Domaini1807 – 1890PKD 14PROSITE-ProRule annotationAdd BLAST84
Domaini1889 – 1974PKD 15PROSITE-ProRule annotationAdd BLAST86
Domaini1977 – 2057PKD 16PROSITE-ProRule annotationAdd BLAST81
Domaini2060 – 2148PKD 17PROSITE-ProRule annotationAdd BLAST89
Domaini2146 – 2833REJPROSITE-ProRule annotationAdd BLAST688
Domaini3012 – 3061GPSPROSITE-ProRule annotationAdd BLAST50
Domaini3118 – 3233PLATPROSITE-ProRule annotationAdd BLAST116

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>Regioni616 – 635DisorderedSequence analysisAdd BLAST20
Regioni4160 – 4196DisorderedSequence analysisAdd BLAST37
Regioni4243 – 4303DisorderedSequence analysisAdd BLAST61

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 coili4220 – 4251Sequence analysisAdd BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi616 – 634Polar residuesSequence analysisAdd BLAST19
Compositional biasi4182 – 4196Polar residuesSequence analysisAdd BLAST15
Compositional biasi4243 – 4258Polar residuesSequence analysisAdd BLAST16

<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 LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.

<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, Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3599, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158702

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000173_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P98161

Identification of Orthologs from Complete Genome Data

More...OMAi		VACLPDN

Database of Orthologous Groups

More...OrthoDBi		1276906at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P98161

TreeFam database of animal gene trees

More...TreeFami		TF316484

Family and domain databases

Conserved Domains Database

More...CDDi		cd01752, PLAT_polycystin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 11 hits
3.10.100.10, 1 hit
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001304, C-type_lectin-like
IPR016186, C-type_lectin-like/link_sf
IPR016187, CTDL_fold
IPR000483, Cys-rich_flank_reg_C
IPR000203, GPS
IPR013783, Ig-like_fold
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR000372, LRRNT
IPR000434, PC1
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
IPR006228, Polycystin_cat
IPR014010, REJ_dom
IPR002889, WSC_carb-bd

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00059, Lectin_C, 1 hit
PF13855, LRR_8, 1 hit
PF00801, PKD, 15 hits
PF08016, PKD_channel, 1 hit
PF01477, PLAT, 1 hit
PF02010, REJ, 1 hit
PF01822, WSC, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00500, POLYCYSTIN1

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00034, CLECT, 1 hit
SM00303, GPS, 1 hit
SM00308, LH2, 1 hit
SM00369, LRR_TYP, 2 hits
SM00082, LRRCT, 1 hit
SM00013, LRRNT, 1 hit
SM00089, PKD, 15 hits
SM00321, WSC, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49299, SSF49299, 13 hits
SSF49723, SSF49723, 1 hit
SSF56436, SSF56436, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00864, PCC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50041, C_TYPE_LECTIN_2, 1 hit
PS50221, GPS, 1 hit
PS51450, LRR, 2 hits
PS50093, PKD, 12 hits
PS50095, PLAT, 1 hit
PS51111, REJ, 1 hit
PS51212, WSC, 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 (3+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P98161-1) [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
MPPAAPARLA LALGLGLWLG ALAGGPGRGC GPCEPPCLCG PAPGAACRVN 
        60         70         80         90        100
CSGRGLRTLG PALRIPADAT ALDVSHNLLR ALDVGLLANL SALAELDISN 
       110        120        130        140        150
NKISTLEEGI FANLFNLSEI NLSGNPFECD CGLAWLPRWA EEQQVRVVQP 
       160        170        180        190        200
EAATCAGPGS LAGQPLLGIP LLDSGCGEEY VACLPDNSSG TVAAVSFSAA 
       210        220        230        240        250
HEGLLQPEAC SAFCFSTGQG LAALSEQGWC LCGAAQPSSA SFACLSLCSG 
       260        270        280        290        300
PPPPPAPTCR GPTLLQHVFP ASPGATLVGP HGPLASGQLA AFHIAAPLPV 
       310        320        330        340        350
TATRWDFGDG SAEVDAAGPA ASHRYVLPGR YHVTAVLALG AGSALLGTDV 
       360        370        380        390        400
QVEAAPAALE LVCPSSVQSD ESLDLSIQNR GGSGLEAAYS IVALGEEPAR 
       410        420        430        440        450
AVHPLCPSDT EIFPGNGHCY RLVVEKAAWL QAQEQCQAWA GAALAMVDSP 
       460        470        480        490        500
AVQRFLVSRV TRSLDVWIGF STVQGVEVGP APQGEAFSLE SCQNWLPGEP 
       510        520        530        540        550
HPATAEHCVR LGPTGWCNTD LCSAPHSYVC ELQPGGPVQD AENLLVGAPS 
       560        570        580        590        600
GDLQGPLTPL AQQDGLSAPH EPVEVMVFPG LRLSREAFLT TAEFGTQELR 
       610        620        630        640        650
RPAQLRLQVY RLLSTAGTPE NGSEPESRSP DNRTQLAPAC MPGGRWCPGA 
       660        670        680        690        700
NICLPLDASC HPQACANGCT SGPGLPGAPY ALWREFLFSV PAGPPAQYSV 
       710        720        730        740        750
TLHGQDVLML PGDLVGLQHD AGPGALLHCS PAPGHPGPRA PYLSANASSW 
       760        770        780        790        800
LPHLPAQLEG TWACPACALR LLAATEQLTV LLGLRPNPGL RLPGRYEVRA 
       810        820        830        840        850
EVGNGVSRHN LSCSFDVVSP VAGLRVIYPA PRDGRLYVPT NGSALVLQVD 
       860        870        880        890        900
SGANATATAR WPGGSVSARF ENVCPALVAT FVPGCPWETN DTLFSVVALP 
       910        920        930        940        950
WLSEGEHVVD VVVENSASRA NLSLRVTAEE PICGLRATPS PEARVLQGVL 
       960        970        980        990       1000
VRYSPVVEAG SDMVFRWTIN DKQSLTFQNV VFNVIYQSAA VFKLSLTASN 
      1010       1020       1030       1040       1050
HVSNVTVNYN VTVERMNRMQ GLQVSTVPAV LSPNATLALT AGVLVDSAVE 
      1060       1070       1080       1090       1100
VAFLWTFGDG EQALHQFQPP YNESFPVPDP SVAQVLVEHN VMHTYAAPGE 
      1110       1120       1130       1140       1150
YLLTVLASNA FENLTQQVPV SVRASLPSVA VGVSDGVLVA GRPVTFYPHP 
      1160       1170       1180       1190       1200
LPSPGGVLYT WDFGDGSPVL TQSQPAANHT YASRGTYHVR LEVNNTVSGA 
      1210       1220       1230       1240       1250
AAQADVRVFE ELRGLSVDMS LAVEQGAPVV VSAAVQTGDN ITWTFDMGDG 
      1260       1270       1280       1290       1300
TVLSGPEATV EHVYLRAQNC TVTVGAASPA GHLARSLHVL VFVLEVLRVE 
      1310       1320       1330       1340       1350
PAACIPTQPD ARLTAYVTGN PAHYLFDWTF GDGSSNTTVR GCPTVTHNFT 
      1360       1370       1380       1390       1400
RSGTFPLALV LSSRVNRAHY FTSICVEPEV GNVTLQPERQ FVQLGDEAWL 
      1410       1420       1430       1440       1450
VACAWPPFPY RYTWDFGTEE AAPTRARGPE VTFIYRDPGS YLVTVTASNN 
      1460       1470       1480       1490       1500
ISAANDSALV EVQEPVLVTS IKVNGSLGLE LQQPYLFSAV GRGRPASYLW 
      1510       1520       1530       1540       1550
DLGDGGWLEG PEVTHAYNST GDFTVRVAGW NEVSRSEAWL NVTVKRRVRG 
      1560       1570       1580       1590       1600
LVVNASRTVV PLNGSVSFST SLEAGSDVRY SWVLCDRCTP IPGGPTISYT 
      1610       1620       1630       1640       1650
FRSVGTFNII VTAENEVGSA QDSIFVYVLQ LIEGLQVVGG GRYFPTNHTV 
      1660       1670       1680       1690       1700
QLQAVVRDGT NVSYSWTAWR DRGPALAGSG KGFSLTVLEA GTYHVQLRAT 
      1710       1720       1730       1740       1750
NMLGSAWADC TMDFVEPVGW LMVAASPNPA AVNTSVTLSA ELAGGSGVVY 
      1760       1770       1780       1790       1800
TWSLEEGLSW ETSEPFTTHS FPTPGLHLVT MTAGNPLGSA NATVEVDVQV 
      1810       1820       1830       1840       1850
PVSGLSIRAS EPGGSFVAAG SSVPFWGQLA TGTNVSWCWA VPGGSSKRGP 
      1860       1870       1880       1890       1900
HVTMVFPDAG TFSIRLNASN AVSWVSATYN LTAEEPIVGL VLWASSKVVA 
      1910       1920       1930       1940       1950
PGQLVHFQIL LAAGSAVTFR LQVGGANPEV LPGPRFSHSF PRVGDHVVSV 
      1960       1970       1980       1990       2000
RGKNHVSWAQ AQVRIVVLEA VSGLQVPNCC EPGIATGTER NFTARVQRGS 
      2010       2020       2030       2040       2050
RVAYAWYFSL QKVQGDSLVI LSGRDVTYTP VAAGLLEIQV RAFNALGSEN 
      2060       2070       2080       2090       2100
RTLVLEVQDA VQYVALQSGP CFTNRSAQFE AATSPSPRRV AYHWDFGDGS 
      2110       2120       2130       2140       2150
PGQDTDEPRA EHSYLRPGDY RVQVNASNLV SFFVAQATVT VQVLACREPE 
      2160       2170       2180       2190       2200
VDVVLPLQVL MRRSQRNYLE AHVDLRDCVT YQTEYRWEVY RTASCQRPGR 
      2210       2220       2230       2240       2250
PARVALPGVD VSRPRLVLPR LALPVGHYCF VFVVSFGDTP LTQSIQANVT 
      2260       2270       2280       2290       2300
VAPERLVPII EGGSYRVWSD TRDLVLDGSE SYDPNLEDGD QTPLSFHWAC 
      2310       2320       2330       2340       2350
VASTQREAGG CALNFGPRGS STVTIPRERL AAGVEYTFSL TVWKAGRKEE 
      2360       2370       2380       2390       2400
ATNQTVLIRS GRVPIVSLEC VSCKAQAVYE VSRSSYVYLE GRCLNCSSGS 
      2410       2420       2430       2440       2450
KRGRWAARTF SNKTLVLDET TTSTGSAGMR LVLRRGVLRD GEGYTFTLTV 
      2460       2470       2480       2490       2500
LGRSGEEEGC ASIRLSPNRP PLGGSCRLFP LGAVHALTTK VHFECTGWHD 
      2510       2520       2530       2540       2550
AEDAGAPLVY ALLLRRCRQG HCEEFCVYKG SLSSYGAVLP PGFRPHFEVG 
      2560       2570       2580       2590       2600
LAVVVQDQLG AAVVALNRSL AITLPEPNGS ATGLTVWLHG LTASVLPGLL 
      2610       2620       2630       2640       2650
RQADPQHVIE YSLALVTVLN EYERALDVAA EPKHERQHRA QIRKNITETL 
      2660       2670       2680       2690       2700
VSLRVHTVDD IQQIAAALAQ CMGPSRELVC RSCLKQTLHK LEAMMLILQA 
      2710       2720       2730       2740       2750
ETTAGTVTPT AIGDSILNIT GDLIHLASSD VRAPQPSELG AESPSRMVAS 
      2760       2770       2780       2790       2800
QAYNLTSALM RILMRSRVLN EEPLTLAGEE IVAQGKRSDP RSLLCYGGAP 
      2810       2820       2830       2840       2850
GPGCHFSIPE AFSGALANLS DVVQLIFLVD SNPFPFGYIS NYTVSTKVAS 
      2860       2870       2880       2890       2900
MAFQTQAGAQ IPIERLASER AITVKVPNNS DWAARGHRSS ANSANSVVVQ 
      2910       2920       2930       2940       2950
PQASVGAVVT LDSSNPAAGL HLQLNYTLLD GHYLSEEPEP YLAVYLHSEP 
      2960       2970       2980       2990       3000
RPNEHNCSAS RRIRPESLQG ADHRPYTFFI SPGSRDPAGS YHLNLSSHFR 
      3010       3020       3030       3040       3050
WSALQVSVGL YTSLCQYFSE EDMVWRTEGL LPLEETSPRQ AVCLTRHLTA 
      3060       3070       3080       3090       3100
FGASLFVPPS HVRFVFPEPT ADVNYIVMLT CAVCLVTYMV MAAILHKLDQ 
      3110       3120       3130       3140       3150
LDASRGRAIP FCGQRGRFKY EILVKTGWGR GSGTTAHVGI MLYGVDSRSG 
      3160       3170       3180       3190       3200
HRHLDGDRAF HRNSLDIFRI ATPHSLGSVW KIRVWHDNKG LSPAWFLQHV 
      3210       3220       3230       3240       3250
IVRDLQTARS AFFLVNDWLS VETEANGGLV EKEVLAASDA ALLRFRRLLV 
      3260       3270       3280       3290       3300
AELQRGFFDK HIWLSIWDRP PRSRFTRIQR ATCCVLLICL FLGANAVWYG 
      3310       3320       3330       3340       3350
AVGDSAYSTG HVSRLSPLSV DTVAVGLVSS VVVYPVYLAI LFLFRMSRSK 
      3360       3370       3380       3390       3400
VAGSPSPTPA GQQVLDIDSC LDSSVLDSSF LTFSGLHAEQ AFVGQMKSDL 
      3410       3420       3430       3440       3450
FLDDSKSLVC WPSGEGTLSW PDLLSDPSIV GSNLRQLARG QAGHGLGPEE 
      3460       3470       3480       3490       3500
DGFSLASPYS PAKSFSASDE DLIQQVLAEG VSSPAPTQDT HMETDLLSSL 
      3510       3520       3530       3540       3550
SSTPGEKTET LALQRLGELG PPSPGLNWEQ PQAARLSRTG LVEGLRKRLL 
      3560       3570       3580       3590       3600
PAWCASLAHG LSLLLVAVAV AVSGWVGASF PPGVSVAWLL SSSASFLASF 
      3610       3620       3630       3640       3650
LGWEPLKVLL EALYFSLVAK RLHPDEDDTL VESPAVTPVS ARVPRVRPPH 
      3660       3670       3680       3690       3700
GFALFLAKEE ARKVKRLHGM LRSLLVYMLF LLVTLLASYG DASCHGHAYR 
      3710       3720       3730       3740       3750
LQSAIKQELH SRAFLAITRS EELWPWMAHV LLPYVHGNQS SPELGPPRLR 
      3760       3770       3780       3790       3800
QVRLQEALYP DPPGPRVHTC SAAGGFSTSD YDVGWESPHN GSGTWAYSAP 
      3810       3820       3830       3840       3850
DLLGAWSWGS CAVYDSGGYV QELGLSLEES RDRLRFLQLH NWLDNRSRAV 
      3860       3870       3880       3890       3900
FLELTRYSPA VGLHAAVTLR LEFPAAGRAL AALSVRPFAL RRLSAGLSLP 
      3910       3920       3930       3940       3950
LLTSVCLLLF AVHFAVAEAR TWHREGRWRV LRLGAWARWL LVALTAATAL 
      3960       3970       3980       3990       4000
VRLAQLGAAD RQWTRFVRGR PRRFTSFDQV AQLSSAARGL AASLLFLLLV 
      4010       4020       4030       4040       4050
KAAQQLRFVR QWSVFGKTLC RALPELLGVT LGLVVLGVAY AQLAILLVSS 
      4060       4070       4080       4090       4100
CVDSLWSVAQ ALLVLCPGTG LSTLCPAESW HLSPLLCVGL WALRLWGALR 
      4110       4120       4130       4140       4150
LGAVILRWRY HALRGELYRP AWEPQDYEMV ELFLRRLRLW MGLSKVKEFR 
      4160       4170       4180       4190       4200
HKVRFEGMEP LPSRSSRGSK VSPDVPPPSA GSDASHPSTS SSQLDGLSVS 
      4210       4220       4230       4240       4250
LGRLGTRCEP EPSRLQAVFE ALLTQFDRLN QATEDVYQLE QQLHSLQGRR 
      4260       4270       4280       4290       4300
SSRAPAGSSR GPSPGLRPAL PSRLARASRG VDLATGPSRT PLRAKNKVHP 

SST
Length:4,303
Mass (Da):462,529
Last modified:March 23, 2010 - v3
<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:iAEDAC48F3F0A853C
GO
Isoform 2 (identifier: P98161-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2497-2507: GWHDAEDAGAP → A
     3390-3390: Missing.

Show »
Length:4,292
Mass (Da):461,365
Checksum:iA5E38810302239F2
GO
Isoform 3 (identifier: P98161-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3390-3390: Missing.

Show »
Length:4,302
Mass (Da):462,401
Checksum:i23CADEBB778AC22D
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BV77H3BV77_HUMAN
Polycystin-1
PKD1
607Annotation 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>
H3BTE0H3BTE0_HUMAN
Polycystin-1
PKD1
1,122Annotation 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>
H3BTG3H3BTG3_HUMAN
Polycystin-1
PKD1
200Annotation 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>
H3BSE9H3BSE9_HUMAN
Polycystin-1
PKD1
246Annotation 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>
H3BSE8H3BSE8_HUMAN
Polycystin-1
PKD1
155Annotation 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>
H3BQF4H3BQF4_HUMAN
Polycystin-1
PKD1
91Annotation 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>
I3L4N0I3L4N0_HUMAN
Polycystin-1
PKD1
45Annotation 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 conflicti71A → E in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti138R → Q in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti253P → A in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti302A → D in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti691P → A in AAC37576 (PubMed:7663510).Curated1
Sequence conflicti691P → A in AAC41765 (PubMed:7663510).Curated1
Sequence conflicti763A → G in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti774 – 775AT → QR in AAC50128 (PubMed:7736581).Curated2
Sequence conflicti792L → M in AAC37576 (PubMed:7663510).Curated1
Sequence conflicti792L → M in AAC41765 (PubMed:7663510).Curated1
Sequence conflicti866V → L in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti884G → A in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti1056T → N in AAC37576 (PubMed:7663510).Curated1
Sequence conflicti1056T → N in AAC41765 (PubMed:7663510).Curated1
Sequence conflicti1277A → G in AAC50128 (PubMed:7736581).Curated1
Sequence conflicti1724A → T in AAC37576 (PubMed:7663510).Curated1
Sequence conflicti1724A → T in AAC41765 (PubMed:7663510).Curated1
Sequence conflicti1976V → M in AAC37576 (PubMed:7663510).Curated1
Sequence conflicti1976V → M in AAC41765 (PubMed:7663510).Curated1
Sequence conflicti3982 – 3983QL → HV in AAC50128 (PubMed:7736581).Curated2
Sequence conflicti4005 – 4006QL → HV in AAC50128 (PubMed:7736581).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01103013L → Q in PKD1. 1 Publication1
Natural variantiVAR_05875936P → H2 PublicationsCorresponds to variant dbSNP:rs560049593EnsemblClinVar.1
Natural variantiVAR_05876061P → L in PKD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs886038369EnsemblClinVar.1
Natural variantiVAR_01103175S → F in PKD1. 1 Publication1
Natural variantiVAR_05876187L → M1 Publication1
Natural variantiVAR_01245288A → V1 Publication