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Protein

Polycystin-1

Gene

PKD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 similarity1 Publication

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandLectin

Enzyme and pathway databases

ReactomeiR-HSA-5620916 VxPx cargo-targeting to cilium
SignaLinkiP98161
SIGNORiP98161

Protein family/group databases

MEROPSiP02.036
TCDBi1.A.5.1.1 the polycystin cation channel (pcc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystin-1
Short name:
PC1
Alternative name(s):
Autosomal dominant polycystic kidney disease 1 protein
Gene namesi
Name:PKD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000008710.17
HGNCiHGNC:9008 PKD1
MIMi601313 gene+phenotype
neXtProtiNX_P98161

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 3074ExtracellularSequence analysisAdd BLAST3051
Transmembranei3075 – 3095HelicalSequence analysisAdd BLAST21
Topological domaini3096 – 3282CytoplasmicSequence analysisAdd BLAST187
Transmembranei3283 – 3303HelicalSequence analysisAdd BLAST21
Topological domaini3304 – 3323ExtracellularSequence analysisAdd BLAST20
Transmembranei3324 – 3344HelicalSequence analysisAdd BLAST21
Topological domaini3345 – 3559CytoplasmicSequence analysisAdd BLAST215
Transmembranei3560 – 3580HelicalSequence analysisAdd BLAST21
Topological domaini3581 – 3582ExtracellularSequence analysis2
Transmembranei3583 – 3603HelicalSequence analysisAdd BLAST21
Topological domaini3604 – 3673CytoplasmicSequence analysisAdd BLAST70
Transmembranei3674 – 3694HelicalSequence analysisAdd BLAST21
Topological domaini3695 – 3896ExtracellularSequence analysisAdd BLAST202
Transmembranei3897 – 3917HelicalSequence analysisAdd BLAST21
Topological domaini3918 – 3938CytoplasmicSequence analysisAdd BLAST21
Transmembranei3939 – 3959HelicalSequence analysisAdd BLAST21
Topological domaini3960 – 3979ExtracellularSequence analysisAdd BLAST20
Transmembranei3980 – 4000HelicalSequence analysisAdd BLAST21
Topological domaini4001 – 4027CytoplasmicSequence analysisAdd BLAST27
Transmembranei4028 – 4048HelicalSequence analysisAdd BLAST21
Topological domaini4049 – 4085ExtracellularSequence analysisAdd BLAST37
Transmembranei4086 – 4106HelicalSequence analysisAdd BLAST21
Topological domaini4107 – 4303CytoplasmicSequence analysisAdd BLAST197

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Polycystic kidney disease 1 with or without polycystic liver disease (PKD1)34 Publications
The disease is caused by mutations 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.
See also OMIM:173900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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. 1 Publication1
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 Publication1
Natural variantiVAR_064382442A → P in PKD1. 1 Publication1
Natural variantiVAR_058766508C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs58598099Ensembl.1
Natural variantiVAR_058768594F → Y in PKD1. 1 Publication1
Natural variantiVAR_068025611R → W in PKD1. 1 Publication1
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_0566971092M → T in PKD1. 4 PublicationsCorresponds to variant dbSNP:rs2549677EnsemblClinVar.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. 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. 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 Publication1
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 Publication1
Natural variantiVAR_0124552423S → F in PKD1. 1 Publication1
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 Publication1
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 Publication1
Natural variantiVAR_0124612613Missing in PKD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0124622638H → R in PKD1. 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 Publication1
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 Publication1
Natural variantiVAR_0110532771E → K in PKD1; does not undergo autoproteolytic cleavage. 4 PublicationsCorresponds to variant dbSNP:rs1057518897Ensembl.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; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs149151043EnsemblClinVar.1
Natural variantiVAR_0110562816L → P in PKD1. 2 Publications1
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 Publications1
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 Publication1
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:rs201780393Ensembl.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:rs79000340Ensembl.1
Natural variantiVAR_0588083602G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs781492044Ensembl.1
Natural variantiVAR_0643923603W → R in PKD1. 1 Publication1
Natural variantiVAR_0055423632E → D in PKD1. 2 Publications1
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 Publications1
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:rs1327414405Ensembl.1
Natural variantiVAR_0588123751Q → R in PKD1. 1 Publication1
Natural variantiVAR_0110683753R → W in PKD1. 3 Publications1
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 Publication1
Natural variantiVAR_0100974154R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs115538130Ensembl.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:rs114251396Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutation

Organism-specific databases

DisGeNETi5310
GeneReviewsiPKD1
MalaCardsiPKD1
MIMi173900 phenotype
601313 gene+phenotype
OpenTargetsiENSG00000008710
Orphaneti730 Autosomal dominant polycystic kidney disease
88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
PharmGKBiPA35521

Polymorphism and mutation databases

BioMutaiPKD1
DMDMi292495072

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000002429824 – 4303Polycystin-1Add BLAST4280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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
Modified residuei4166Phosphoserine; by PRKX; in vitro1 Publication1

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
Sitei3048 – 3049Cleavage; by autolysis2 Publications2

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP98161
PaxDbiP98161
PeptideAtlasiP98161
PRIDEiP98161
ProteomicsDBi57797
57798 [P98161-2]
57799 [P98161-3]

PTM databases

iPTMnetiP98161
PhosphoSitePlusiP98161

Expressioni

Gene expression databases

BgeeiENSG00000008710 Expressed in 227 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_PKD1
ExpressionAtlasiP98161 baseline and differential
GenevisibleiP98161 HS

Organism-specific databases

HPAiCAB046448

Interactioni

Subunit structurei

Interacts with PKD2 and PKD2L1 (By similarity). Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165). Interacts with NPHP1 (via SH3 domain) (PubMed:20856870). Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912). Interacts with RGS7 (PubMed:10339594).By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111327, 19 interactors
CORUMiP98161
DIPiDIP-52317N
IntActiP98161, 7 interactors
MINTiP98161
STRINGi9606.ENSP00000262304

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliP98161
SMRiP98161
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP98161

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 67LRRNTAdd BLAST44
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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili4220 – 4251Sequence analysisAdd BLAST32

Domaini

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

Sequence similaritiesi

Belongs to the polycystin family.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3599 Eukaryota
ENOG410XTGE LUCA
GeneTreeiENSGT00700000104221
HOGENOMiHOG000168445
HOVERGENiHBG049412
InParanoidiP98161
KOiK04985
OMAiDVVFRWT
OrthoDBiEOG091G004D
PhylomeDBiP98161
TreeFamiTF316484

Family and domain databases

Gene3Di2.60.40.10, 11 hits
3.10.100.10, 1 hit
3.80.10.10, 2 hits
InterProiView 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
IPR006228 Polycystin_cat
IPR014010 REJ_dom
IPR002889 WSC_carb-bd
PfamiView 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
PRINTSiPR00500 POLYCYSTIN1
SMARTiView 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
SUPFAMiSSF49299 SSF49299, 13 hits
SSF49723 SSF49723, 1 hit
SSF56436 SSF56436, 1 hit
TIGRFAMsiTIGR00864 PCC, 1 hit
PROSITEiView 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

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        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
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

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:
H3BTE0H3BTE0_HUMAN
Polycystin-1
PKD1
1,122Annotation score:
H3BSE8H3BSE8_HUMAN
Polycystin-1
PKD1
155Annotation score:
H3BSE9H3BSE9_HUMAN
Polycystin-1
PKD1
246Annotation score:
H3BTG3H3BTG3_HUMAN
Polycystin-1
PKD1
200Annotation score:
H3BQF4H3BQF4_HUMAN
Polycystin-1
PKD1
91Annotation score:
I3L4N0I3L4N0_HUMAN
Polycystin-1
PKD1
45Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 PublicationCorresponds to variant dbSNP:rs958271752Ensembl.1
Natural variantiVAR_06438097D → G in PKD1. 1 Publication1
Natural variantiVAR_05876299S → I in PKD1; unknown pathological significance. 1 Publication1
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 Publication1
Natural variantiVAR_064382442A → P in PKD1. 1 Publication1
Natural variantiVAR_058766508C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs58598099Ensembl.1
Natural variantiVAR_058767572P → S1 PublicationCorresponds to variant dbSNP:rs149022148EnsemblClinVar.1
Natural variantiVAR_058768594F → Y in PKD1. 1 Publication1
Natural variantiVAR_068025611R → W in PKD1. 1 Publication1
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_058770738P → R. 1
Natural variantiVAR_058771739R → Q3 PublicationsCorresponds to variant dbSNP:rs40433Ensembl.1
Natural variantiVAR_010086845L → S in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs199476100EnsemblClinVar.1
Natural variantiVAR_056696950L → P. Corresponds to variant dbSNP:rs2369063Ensembl.1
Natural variantiVAR_012453967W → R in PKD1. 1 Publication1
Natural variantiVAR_058772987Q → H in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1266492292Ensembl.1
Natural variantiVAR_0566971092M → T in PKD1. 4 PublicationsCorresponds to variant dbSNP:rs2549677EnsemblClinVar.1
Natural variantiVAR_0566981114L → R. Corresponds to variant dbSNP:rs241573Ensembl.1
Natural variantiVAR_0110331166G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs573566419EnsemblClinVar.1
Natural variantiVAR_0587731168P → S1 PublicationCorresponds to variant dbSNP:rs146887330EnsemblClinVar.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. 1 PublicationCorresponds to variant dbSNP:rs143690392EnsemblClinVar.1
Natural variantiVAR_0100871399W → R6 PublicationsCorresponds to variant dbSNP:rs116092985EnsemblClinVar.1
Natural variantiVAR_0587771516A → T1 PublicationCorresponds to variant dbSNP:rs148164067EnsemblClinVar.1
Natural variantiVAR_0566991557R → P. Corresponds to variant dbSNP:rs241572Ensembl.1
Natural variant