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P98161

- PKD1_HUMAN

UniProt

P98161 - PKD1_HUMAN

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Protein
Polycystin-1
Gene
PKD1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. 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.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei3048 – 30492Cleavage; by autolysis

GO - Molecular functioni

  1. calcium channel activity Source: RefGenome
  2. carbohydrate binding Source: InterPro
  3. cation channel activity Source: BHF-UCL
  4. ion channel binding Source: BHF-UCL
  5. protein binding Source: UniProtKB
  6. protein domain specific binding Source: BHF-UCL
  7. protein kinase binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. JAK-STAT cascade Source: BHF-UCL
  2. anatomical structure morphogenesis Source: ProtInc
  3. branching morphogenesis of an epithelial tube Source: UniProtKB
  4. calcium ion transmembrane transport Source: GOC
  5. calcium-independent cell-matrix adhesion Source: ProtInc
  6. cartilage condensation Source: Ensembl
  7. cartilage development Source: UniProtKB
  8. cell cycle arrest Source: BHF-UCL
  9. cell-matrix adhesion Source: ProtInc
  10. cytoplasmic sequestering of transcription factor Source: BHF-UCL
  11. detection of mechanical stimulus Source: BHF-UCL
  12. digestive tract development Source: UniProtKB
  13. embryonic placenta development Source: BHF-UCL
  14. genitalia development Source: UniProtKB
  15. heart development Source: UniProtKB
  16. homophilic cell adhesion Source: ProtInc
  17. in utero embryonic development Source: BHF-UCL
  18. kidney development Source: BHF-UCL
  19. liver development Source: Ensembl
  20. lung epithelium development Source: UniProtKB
  21. mesonephric duct development Source: UniProtKB
  22. mesonephric tubule development Source: UniProtKB
  23. metanephric ascending thin limb development Source: UniProtKB
  24. metanephric collecting duct development Source: UniProtKB
  25. metanephric distal tubule morphogenesis Source: UniProtKB
  26. metanephric proximal tubule development Source: UniProtKB
  27. neural tube development Source: UniProtKB
  28. neuropeptide signaling pathway Source: InterPro
  29. nitrogen compound metabolic process Source: Ensembl
  30. peptidyl-serine phosphorylation Source: BHF-UCL
  31. placenta blood vessel development Source: BHF-UCL
  32. positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle Source: BHF-UCL
  33. positive regulation of cytosolic calcium ion concentration Source: Ensembl
  34. positive regulation of protein binding Source: BHF-UCL
  35. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  36. protein export from nucleus Source: BHF-UCL
  37. regulation of mitotic spindle organization Source: Ensembl
  38. regulation of proteasomal protein catabolic process Source: MGI
  39. skin development Source: UniProtKB
  40. spinal cord development Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Lectin

Enzyme and pathway databases

SignaLinkiP98161.

Protein family/group databases

MEROPSiT06.001.
TCDBi1.A.5.1.1. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystin-1
Alternative name(s):
Autosomal dominant polycystic kidney disease 1 protein
Gene namesi
Name:PKD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:9008. PKD1.

Subcellular locationi

Membrane; Multi-pass membrane protein. Cell projectioncilium By similarity
Note: PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 30743051Extracellular Reviewed prediction
Add
BLAST
Transmembranei3075 – 309521Helical; Reviewed prediction
Add
BLAST
Topological domaini3096 – 3282187Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei3283 – 330321Helical; Reviewed prediction
Add
BLAST
Topological domaini3304 – 332320Extracellular Reviewed prediction
Add
BLAST
Transmembranei3324 – 334421Helical; Reviewed prediction
Add
BLAST
Topological domaini3345 – 3559215Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei3560 – 358021Helical; Reviewed prediction
Add
BLAST
Topological domaini3581 – 35822Extracellular Reviewed prediction
Transmembranei3583 – 360321Helical; Reviewed prediction
Add
BLAST
Topological domaini3604 – 367370Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei3674 – 369421Helical; Reviewed prediction
Add
BLAST
Topological domaini3695 – 3896202Extracellular Reviewed prediction
Add
BLAST
Transmembranei3897 – 391721Helical; Reviewed prediction
Add
BLAST
Topological domaini3918 – 393821Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei3939 – 395921Helical; Reviewed prediction
Add
BLAST
Topological domaini3960 – 397920Extracellular Reviewed prediction
Add
BLAST
Transmembranei3980 – 400021Helical; Reviewed prediction
Add
BLAST
Topological domaini4001 – 402727Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei4028 – 404821Helical; Reviewed prediction
Add
BLAST
Topological domaini4049 – 408537Extracellular Reviewed prediction
Add
BLAST
Transmembranei4086 – 410621Helical; Reviewed prediction
Add
BLAST
Topological domaini4107 – 4303197Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: Ensembl
  2. basolateral plasma membrane Source: BHF-UCL
  3. cilium Source: BHF-UCL
  4. cytoplasm Source: BHF-UCL
  5. extracellular vesicular exosome Source: UniProt
  6. integral component of membrane Source: BHF-UCL
  7. integral component of plasma membrane Source: ProtInc
  8. lateral plasma membrane Source: Ensembl
  9. motile primary cilium Source: BHF-UCL
  10. nucleus Source: BHF-UCL
  11. plasma membrane Source: MGI
  12. polycystin complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Polycystic kidney disease 1 (PKD1) [MIM:173900]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.34 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131L → Q in PKD1. 1 Publication
VAR_011030
Natural varianti61 – 611P → L in PKD1; unknown pathological significance. 2 Publications
VAR_058760
Natural varianti75 – 751S → F in PKD1. 1 Publication
VAR_011031
Natural varianti97 – 971D → G in PKD1. 1 Publication
VAR_064380
Natural varianti99 – 991S → I in PKD1; unknown pathological significance. 1 Publication
VAR_058762
Natural varianti139 – 1391W → C in PKD1. 1 Publication
VAR_011032
Natural varianti164 – 1641Q → R in PKD1. 1 Publication
VAR_058763
Natural varianti210 – 2101C → G in PKD1. 1 Publication
VAR_058764
Natural varianti324 – 3241R → L in PKD1. 1 Publication
VAR_010085
Natural varianti325 – 3251Y → C in PKD1. 1 Publication
VAR_068024
Natural varianti381 – 3811G → C in PKD1. 1 Publication
VAR_058765
Natural varianti436 – 4361C → R in PKD1. 1 Publication
VAR_064381
Natural varianti442 – 4421A → P in PKD1. 1 Publication
VAR_064382
Natural varianti508 – 5081C → R in PKD1. 1 Publication
Corresponds to variant rs58598099 [ dbSNP | Ensembl ].
VAR_058766
Natural varianti594 – 5941F → Y in PKD1. 1 Publication
VAR_058768
Natural varianti611 – 6111R → W in PKD1. 1 Publication
VAR_068025
Natural varianti690 – 6901V → D in PKD1. 1 Publication
VAR_058769
Natural varianti698 – 6981Y → D in PKD1. 1 Publication
VAR_068026
Natural varianti727 – 7271L → P in PKD1. 2 Publications
VAR_064383
Natural varianti727 – 7271L → R in PKD1. 1 Publication
VAR_064384
Natural varianti845 – 8451L → S in PKD1. 2 Publications
VAR_010086
Natural varianti967 – 9671W → R in PKD1. 1 Publication
VAR_012453
Natural varianti987 – 9871Q → H in PKD1. 1 Publication
VAR_058772
Natural varianti1092 – 10921M → T in PKD1. 4 Publications
Corresponds to variant rs2549677 [ dbSNP | Ensembl ].
VAR_056697
Natural varianti1166 – 11661G → S in PKD1. 1 Publication
VAR_011033
Natural varianti1206 – 12061V → G in PKD1. 1 Publication
VAR_068027
Natural varianti1240 – 12401Missing in PKD1. 1 Publication
VAR_058774
Natural varianti1242 – 12421T → M in PKD1; unknown pathological significance. 1 Publication
VAR_058775
Natural varianti1340 – 13401R → W in PKD1. 1 Publication
Corresponds to variant rs143690392 [ dbSNP | Ensembl ].
VAR_058776
Natural varianti1667 – 16671T → P in PKD1. 1 Publication
VAR_058779
Natural varianti1811 – 18111E → K in PKD1. 2 Publications
VAR_058781
Natural varianti1956 – 19561V → E in PKD1. 1 Publication
VAR_011034
Natural varianti1992 – 19932FT → L in PKD1.
VAR_011035
Natural varianti2083 – 20831T → I in PKD1. 1 Publication
VAR_058786
Natural varianti2092 – 20921Y → C in PKD1. 2 Publications
VAR_058787
Natural varianti2185 – 21851Y → D in PKD1. 1 Publication
VAR_058788
Natural varianti2200 – 22001R → C in PKD1. 2 Publications
Corresponds to variant rs140869992 [ dbSNP | Ensembl ].
VAR_058789
Natural varianti2220 – 22245Missing in PKD1.
VAR_011037
Natural varianti2250 – 22501T → M in PKD1; unknown pathological significance. 1 Publication
VAR_011038
Natural varianti2260 – 22601Missing in PKD1. 2 Publications
VAR_058790
Natural varianti2329 – 23291R → W in PKD1; unknown pathological significance. 1 Publication
VAR_011039
Natural varianti2336 – 23361Y → D in PKD1. 1 Publication
VAR_011040
Natural varianti2370 – 23701C → R in PKD1. 1 Publication
VAR_058791
Natural varianti2373 – 23731C → Y in PKD1. 1 Publication
VAR_058792
Natural varianti2379 – 23791Y → C in PKD1. 2 Publications
VAR_011041
Natural varianti2391 – 23911G → D in PKD1. 1 Publication
VAR_064385
Natural varianti2392 – 23921R → P in PKD1. 1 Publication
VAR_012454
Natural varianti2408 – 24081R → C in PKD1. 1 Publication
VAR_011042
Natural varianti2421 – 24211Missing in PKD1. 1 Publication
VAR_058793
Natural varianti2422 – 24221T → K in PKD1. 1 Publication
VAR_058794
Natural varianti2423 – 24231S → F in PKD1. 1 Publication
VAR_012455
Natural varianti2434 – 24341R → W in PKD1. 1 Publication
VAR_064386
Natural varianti2443 – 24431G → GG in PKD1.
VAR_011043
Natural varianti2471 – 24711P → L in PKD1. 1 Publication
VAR_012456
Natural varianti2519 – 25191Q → L in PKD1; unknown pathological significance. 1 Publication
VAR_012457
Natural varianti2546 – 25461H → Y in PKD1. 1 Publication
VAR_064387
Natural varianti2569 – 25691S → C in PKD1. 1 Publication
VAR_064388
Natural varianti2579 – 25791Missing in PKD1; unknown pathological significance. 1 Publication
VAR_012459
Natural varianti2613 – 26131Missing in PKD1; unknown pathological significance. 1 Publication
VAR_012461
Natural varianti2638 – 26381H → R in PKD1. 6 Publications
Corresponds to variant rs9936785 [ dbSNP | Ensembl ].
VAR_012462
Natural varianti2646 – 26461I → T in PKD1. 1 Publication
VAR_064389
Natural varianti2649 – 26491T → I in PKD1; unknown pathological significance. 1 Publication
VAR_012463
Natural varianti2696 – 26961L → R in PKD1. 1 Publication
VAR_012464
Natural varianti2752 – 27521A → D in PKD1. 1 Publication
VAR_011049
Natural varianti2760 – 27601M → T Associated with PKD1. 1 Publication
Corresponds to variant rs1800568 [ dbSNP | Ensembl ].
VAR_005533
Natural varianti2761 – 27611R → P Associated with PKD1. 1 Publication
VAR_058795
Natural varianti2763 – 27631L → V in PKD1. 1 Publication
VAR_005535
Natural varianti2764 – 27641M → T Associated with PKD1. 1 Publication
Corresponds to variant rs1800570 [ dbSNP | Ensembl ].
VAR_005536
Natural varianti2765 – 27651R → RILMR in PKD1.
VAR_011050
Natural varianti2767 – 27671R → C in PKD1. 1 Publication
VAR_068028
Natural varianti2768 – 27681V → M in PKD1; associated with S-2858. 1 Publication
VAR_011052
Natural varianti2771 – 27711E → K in PKD1; does not undergo autoproteolytic cleavage. 4 Publications
VAR_011053
Natural varianti2785 – 27851G → D in PKD1. 1 Publication
VAR_058796
Natural varianti2802 – 28021P → L in PKD1. 1 Publication
VAR_058797
Natural varianti2814 – 28141G → R in PKD1; unknown pathological significance. 4 Publications
Corresponds to variant rs149151043 [ dbSNP | Ensembl ].
VAR_011055
Natural varianti2816 – 28161L → P in PKD1. 2 Publications
VAR_011056
Natural varianti2826 – 28261I → T in PKD1. 1 Publication
VAR_005538
Natural varianti2858 – 28581G → S in PKD1; associated with M-2768. 1 Publication
VAR_011057
Natural varianti2889 – 28891S → R in PKD1. 1 Publication
VAR_064390
Natural varianti2921 – 29211H → P in PKD1; does not undergo autoproteolytic cleavage. 2 Publications
VAR_011060
Natural varianti2978 – 29781Missing in PKD1; unknown pathological significance. 1 Publication
VAR_012466
Natural varianti2985 – 29851R → G in PKD1. 1 Publication
VAR_012467
Natural varianti2993 – 29931L → P in PKD1; does not undergo autoproteolytic cleavage. 2 Publications
VAR_010089
Natural varianti2995 – 29951L → R in PKD1. 1 Publication
VAR_068029
Natural varianti3008 – 30081V → L in PKD1. 1 Publication
VAR_005539
Natural varianti3012 – 30176Missing in PKD1.
VAR_011062
Natural varianti3016 – 30161Q → R in PKD1; does not undergo autoproteolytic cleavage. 2 Publications
VAR_010090
Natural varianti3027 – 303913Missing in PKD1.
VAR_058801Add
BLAST
Natural varianti3039 – 30391R → C in PKD1. 1 Publication
VAR_012468
Natural varianti3066 – 30661F → L in PKD1. 8 Publications
Corresponds to variant rs77028972 [ dbSNP | Ensembl ].
VAR_011063
Natural varianti3138 – 31381V → M in PKD1; unknown pathological significance. 1 Publication
VAR_058803
Natural varianti3154 – 31541L → P in PKD1. 1 Publication
VAR_064391
Natural varianti3167 – 31671I → F in PKD1. 1 Publication
VAR_058804
Natural varianti3188 – 31881Missing in PKD1. 1 Publication
VAR_058805
Natural varianti3247 – 32471R → H in PKD1. 1 Publication
VAR_013838
Natural varianti3285 – 32851V → I in PKD1. 1 Publication
VAR_012469
Natural varianti3355 – 33551P → L in PKD1. 1 Publication
VAR_058806
Natural varianti3375 – 33751V → M in PKD1. 2 Publications
VAR_005541
Natural varianti3382 – 33821T → M in PKD1. 1 Publication
VAR_013839
Natural varianti3510 – 35101T → M in PKD1. 5 Publications
Corresponds to variant rs45478794 [ dbSNP | Ensembl ].
VAR_010091
Natural varianti3511 – 35111L → V in PKD1; unknown pathological significance. 1 Publication
VAR_010092
Natural varianti3560 – 35601G → R in PKD1. 1 Publication
Corresponds to variant rs79000340 [ dbSNP | Ensembl ].
VAR_012471
Natural varianti3602 – 36021G → S in PKD1. 1 Publication
VAR_058808
Natural varianti3603 – 36031W → R in PKD1. 1 Publication
VAR_064392
Natural varianti3632 – 36321E → D in PKD1. 2 Publications
VAR_005542
Natural varianti3649 – 36491P → L in PKD1. 1 Publication
VAR_058809
Natural varianti3651 – 36511G → S in PKD1. 1 Publication
VAR_068030
Natural varianti3678 – 36781M → T in PKD1. 2 Publications
VAR_005543
Natural varianti3682 – 36821L → P in PKD1. 1 Publication
VAR_058810
Natural varianti3719 – 37191R → Q in PKD1. 2 Publications
VAR_011067
Natural varianti3726 – 37261W → S in PKD1; unknown pathological significance. 1 Publication
VAR_058811
Natural varianti3748 – 37525Missing in PKD1.
VAR_005544
Natural varianti3750 – 37501R → Q in PKD1. 2 Publications
VAR_064393
Natural varianti3751 – 37511Q → R in PKD1. 1 Publication
VAR_058812
Natural varianti3753 – 37531R → W in PKD1. 3 Publications
VAR_011068
Natural varianti3815 – 38151D → N in PKD1. 1 Publication
VAR_011069
Natural varianti3852 – 38521L → P in PKD1. 2 Publications
VAR_011070
Natural varianti3954 – 39541A → P in PKD1; unknown pathological significance. 1 Publication
VAR_058813
Natural varianti3996 – 39961F → FLLF in PKD1.
VAR_010094
Natural varianti4032 – 40321G → D in PKD1. 1 Publication
VAR_005545
Natural varianti4132 – 41321Missing in PKD1. 1 Publication
VAR_011071
Natural varianti4136 – 41361R → G in PKD1. 1 Publication
VAR_010096
Natural varianti4150 – 41501R → C in PKD1. 1 Publication
VAR_068031
Natural varianti4154 – 41541R → C in PKD1. 1 Publication
Corresponds to variant rs115538130 [ dbSNP | Ensembl ].
VAR_010097
Natural varianti4155 – 41551F → V in PKD1. 1 Publication
VAR_058818
Natural varianti4225 – 42251Q → P in PKD1. 1 Publication
VAR_010099
Natural varianti4255 – 42551P → S in PKD1. 1 Publication
VAR_058819
Natural varianti4276 – 42761R → W in PKD1. 2 Publications
Corresponds to variant rs114251396 [ dbSNP | Ensembl ].
VAR_010100

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi3049 – 30491T → C or S: Does not affect auto-cleavage. 1 Publication
Mutagenesisi3049 – 30491T → G, R or V: Does not undergo auto-cleavage. 1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MIMi173900. phenotype.
601313. gene+phenotype.
Orphaneti730. Autosomal dominant polycystic kidney disease.
88924. Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis.
PharmGKBiPA35521.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed prediction
Add
BLAST
Chaini24 – 43034280Polycystin-1
PRO_0000024298Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi50 – 501N-linked (GlcNAc...) Reviewed prediction
Glycosylationi89 – 891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi116 – 1161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi121 – 1211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi187 – 1871N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi436 ↔ 530 By similarity
Disulfide bondi508 ↔ 522 By similarity
Glycosylationi621 – 6211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi632 – 6321N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi640 ↔ 653 By similarity
Disulfide bondi647 ↔ 665 By similarity
Disulfide bondi660 ↔ 669 By similarity
Glycosylationi746 – 7461N-linked (GlcNAc...) Reviewed prediction
Glycosylationi810 – 8101N-linked (GlcNAc...) Reviewed prediction
Glycosylationi841 – 8411N-linked (GlcNAc...) Reviewed prediction
Glycosylationi854 – 8541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi890 – 8901N-linked (GlcNAc...) Reviewed prediction
Glycosylationi921 – 9211N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1004 – 10041N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1010 – 10101N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1034 – 10341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1072 – 10721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1113 – 11131N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1178 – 11781N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1194 – 11941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1240 – 12401N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1269 – 12691N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1336 – 13361N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1348 – 13481N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1382 – 13821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1450 – 14501N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1455 – 14551N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1474 – 14741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1518 – 15181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1541 – 15411N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1554 – 15541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1563 – 15631N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1647 – 16471N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1661 – 16611N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1733 – 17331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1791 – 17911N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1834 – 18341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1867 – 18671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1880 – 18801N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1991 – 19911N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2050 – 20501N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2074 – 20741N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2125 – 21251N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2248 – 22481N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2353 – 23531N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2395 – 23951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2412 – 24121N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2567 – 25671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2578 – 25781N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2645 – 26451N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2718 – 27181N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2754 – 27541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2841 – 28411N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2878 – 28781N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2925 – 29251N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2956 – 29561N-linked (GlcNAc...) Reviewed prediction
Glycosylationi2994 – 29941N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3738 – 37381N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3790 – 37901N-linked (GlcNAc...) Reviewed prediction
Glycosylationi3845 – 38451N-linked (GlcNAc...) Reviewed prediction
Modified residuei4166 – 41661Phosphoserine; by PRKX; in vitro1 Publication

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.2 Publications

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP98161.
PRIDEiP98161.

PTM databases

PhosphoSiteiP98161.

Expressioni

Gene expression databases

ArrayExpressiP98161.
BgeeiP98161.
CleanExiHS_PKD1.
GenevestigatoriP98161.

Organism-specific databases

HPAiCAB046448.

Interactioni

Subunit structurei

Interacts with PKD2 and PKD2L1. Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney. Interacts with NPHP1 (via SH3 domain).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NPHP1O152592EBI-1752013,EBI-953828
PKD2Q135637EBI-1752013,EBI-7813714

Protein-protein interaction databases

BioGridi111327. 18 interactions.
DIPiDIP-52317N.
IntActiP98161. 7 interactions.
MINTiMINT-1199187.
STRINGi9606.ENSP00000262304.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi276 – 2783
Beta strandi285 – 29612
Beta strandi301 – 3066
Beta strandi313 – 3175
Beta strandi320 – 3256
Beta strandi327 – 33812
Beta strandi343 – 35311

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1B4RNMR-A275-354[»]
ProteinModelPortaliP98161.
SMRiP98161. Positions 275-354.

Miscellaneous databases

EvolutionaryTraceiP98161.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 6744LRRNT
Add
BLAST
Repeati68 – 9124LRR 1
Add
BLAST
Repeati92 – 11322LRR 2
Add
BLAST
Domaini125 – 17854LRRCT
Add
BLAST
Domaini177 – 27195WSC
Add
BLAST
Domaini272 – 35988PKD 1
Add
BLAST
Domaini415 – 531117C-type lectin
Add
BLAST
Domaini638 – 67134LDL-receptor class A; atypical
Add
BLAST
Domaini743 – 81775PKD 2
Add
BLAST
Domaini855 – 92874PKD 3
Add
BLAST
Domaini935 – 102086PKD 4
Add
BLAST
Domaini1023 – 1129107PKD 5
Add
BLAST
Domaini1127 – 121589PKD 6
Add
BLAST
Domaini1213 – 129886PKD 7
Add
BLAST
Domaini1294 – 138390PKD 8
Add
BLAST
Domaini1382 – 146988PKD 9
Add
BLAST
Domaini1468 – 155184PKD 10
Add
BLAST
Domaini1550 – 163586PKD 11
Add
BLAST
Domaini1634 – 172188PKD 12
Add
BLAST
Domaini1719 – 180587PKD 13
Add
BLAST
Domaini1807 – 189084PKD 14
Add
BLAST
Domaini1889 – 197486PKD 15
Add
BLAST
Domaini1977 – 205781PKD 16
Add
BLAST
Domaini2060 – 214889PKD 17
Add
BLAST
Domaini2146 – 2833688REJ
Add
BLAST
Domaini3012 – 306150GPS
Add
BLAST
Domaini3118 – 3233116PLAT
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili4220 – 425132 Reviewed prediction
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi3744 – 375613Polycystin motif
Add
BLAST

Domaini

The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.1 Publication

Sequence similaritiesi

Belongs to the polycystin family.
Contains 1 GPS domain.
Contains 1 LRRCT domain.
Contains 1 LRRNT domain.
Contains 17 PKD domains.
Contains 1 PLAT domain.
Contains 1 REJ domain.
Contains 1 WSC domain.

Keywords - Domaini

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

Phylogenomic databases

eggNOGiCOG3291.
HOGENOMiHOG000168445.
HOVERGENiHBG049412.
InParanoidiP98161.
KOiK04985.
OMAiGQCNTDL.
OrthoDBiEOG76X5Z6.
PhylomeDBiP98161.
TreeFamiTF316484.

Family and domain databases

Gene3Di2.60.40.670. 14 hits.
2.60.60.20. 1 hit.
3.10.100.10. 2 hits.
InterProiIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR000483. Cys-rich_flank_reg_C.
IPR000203. GPS.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR008976. Lipase_LipOase.
IPR000372. LRR-contain_N.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR013122. PKD1_2_channel.
IPR000434. PKD_1.
IPR000601. PKD_dom.
IPR001024. PLAT/LH2_dom.
IPR006228. Polycystin_cat.
IPR014010. REJ-like.
IPR002889. WSC_carb-bd.
IPR013994. WSC_carb-bd_subgr.
[Graphical view]
PfamiPF01825. GPS. 1 hit.
PF00059. Lectin_C. 1 hit.
PF13855. LRR_8. 1 hit.
PF01462. LRRNT. 1 hit.
PF00801. PKD. 15 hits.
PF08016. PKD_channel. 1 hit.
PF01477. PLAT. 1 hit.
PF02010. REJ. 1 hit.
PF01822. WSC. 1 hit.
[Graphical view]
PRINTSiPR00500. POLYCYSTIN1.
SMARTiSM00034. CLECT. 1 hit.
SM00303. GPS. 1 hit.
SM00308. LH2. 1 hit.
SM00369. LRR_TYP. 1 hit.
SM00082. LRRCT. 1 hit.
SM00013. LRRNT. 1 hit.
SM00089. PKD. 15 hits.
SM00321. WSC. 1 hit.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 13 hits.
SSF49723. SSF49723. 1 hit.
SSF56436. SSF56436. 1 hit.
TIGRFAMsiTIGR00864. PCC. 1 hit.
PROSITEiPS50041. 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.
[Graphical view]

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. Align

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.

« Hide

MPPAAPARLA LALGLGLWLG ALAGGPGRGC GPCEPPCLCG PAPGAACRVN     50
CSGRGLRTLG PALRIPADAT ALDVSHNLLR ALDVGLLANL SALAELDISN 100
NKISTLEEGI FANLFNLSEI NLSGNPFECD CGLAWLPRWA EEQQVRVVQP 150
EAATCAGPGS LAGQPLLGIP LLDSGCGEEY VACLPDNSSG TVAAVSFSAA 200
HEGLLQPEAC SAFCFSTGQG LAALSEQGWC LCGAAQPSSA SFACLSLCSG 250
PPPPPAPTCR GPTLLQHVFP ASPGATLVGP HGPLASGQLA AFHIAAPLPV 300
TATRWDFGDG SAEVDAAGPA ASHRYVLPGR YHVTAVLALG AGSALLGTDV 350
QVEAAPAALE LVCPSSVQSD ESLDLSIQNR GGSGLEAAYS IVALGEEPAR 400
AVHPLCPSDT EIFPGNGHCY RLVVEKAAWL QAQEQCQAWA GAALAMVDSP 450
AVQRFLVSRV TRSLDVWIGF STVQGVEVGP APQGEAFSLE SCQNWLPGEP 500
HPATAEHCVR LGPTGWCNTD LCSAPHSYVC ELQPGGPVQD AENLLVGAPS 550
GDLQGPLTPL AQQDGLSAPH EPVEVMVFPG LRLSREAFLT TAEFGTQELR 600
RPAQLRLQVY RLLSTAGTPE NGSEPESRSP DNRTQLAPAC MPGGRWCPGA 650
NICLPLDASC HPQACANGCT SGPGLPGAPY ALWREFLFSV PAGPPAQYSV 700
TLHGQDVLML PGDLVGLQHD AGPGALLHCS PAPGHPGPRA PYLSANASSW 750
LPHLPAQLEG TWACPACALR LLAATEQLTV LLGLRPNPGL RLPGRYEVRA 800
EVGNGVSRHN LSCSFDVVSP VAGLRVIYPA PRDGRLYVPT NGSALVLQVD 850
SGANATATAR WPGGSVSARF ENVCPALVAT FVPGCPWETN DTLFSVVALP 900
WLSEGEHVVD VVVENSASRA NLSLRVTAEE PICGLRATPS PEARVLQGVL 950
VRYSPVVEAG SDMVFRWTIN DKQSLTFQNV VFNVIYQSAA VFKLSLTASN 1000
HVSNVTVNYN VTVERMNRMQ GLQVSTVPAV LSPNATLALT AGVLVDSAVE 1050
VAFLWTFGDG EQALHQFQPP YNESFPVPDP SVAQVLVEHN VMHTYAAPGE 1100
YLLTVLASNA FENLTQQVPV SVRASLPSVA VGVSDGVLVA GRPVTFYPHP 1150
LPSPGGVLYT WDFGDGSPVL TQSQPAANHT YASRGTYHVR LEVNNTVSGA 1200
AAQADVRVFE ELRGLSVDMS LAVEQGAPVV VSAAVQTGDN ITWTFDMGDG 1250
TVLSGPEATV EHVYLRAQNC TVTVGAASPA GHLARSLHVL VFVLEVLRVE 1300
PAACIPTQPD ARLTAYVTGN PAHYLFDWTF GDGSSNTTVR GCPTVTHNFT 1350
RSGTFPLALV LSSRVNRAHY FTSICVEPEV GNVTLQPERQ FVQLGDEAWL 1400
VACAWPPFPY RYTWDFGTEE AAPTRARGPE VTFIYRDPGS YLVTVTASNN 1450
ISAANDSALV EVQEPVLVTS IKVNGSLGLE LQQPYLFSAV GRGRPASYLW 1500
DLGDGGWLEG PEVTHAYNST GDFTVRVAGW NEVSRSEAWL NVTVKRRVRG 1550
LVVNASRTVV PLNGSVSFST SLEAGSDVRY SWVLCDRCTP IPGGPTISYT 1600
FRSVGTFNII VTAENEVGSA QDSIFVYVLQ LIEGLQVVGG GRYFPTNHTV 1650
QLQAVVRDGT NVSYSWTAWR DRGPALAGSG KGFSLTVLEA GTYHVQLRAT 1700
NMLGSAWADC TMDFVEPVGW LMVAASPNPA AVNTSVTLSA ELAGGSGVVY 1750
TWSLEEGLSW ETSEPFTTHS FPTPGLHLVT MTAGNPLGSA NATVEVDVQV 1800
PVSGLSIRAS EPGGSFVAAG SSVPFWGQLA TGTNVSWCWA VPGGSSKRGP 1850
HVTMVFPDAG TFSIRLNASN AVSWVSATYN LTAEEPIVGL VLWASSKVVA 1900
PGQLVHFQIL LAAGSAVTFR LQVGGANPEV LPGPRFSHSF PRVGDHVVSV 1950
RGKNHVSWAQ AQVRIVVLEA VSGLQVPNCC EPGIATGTER NFTARVQRGS 2000
RVAYAWYFSL QKVQGDSLVI LSGRDVTYTP VAAGLLEIQV RAFNALGSEN 2050
RTLVLEVQDA VQYVALQSGP CFTNRSAQFE AATSPSPRRV AYHWDFGDGS 2100
PGQDTDEPRA EHSYLRPGDY RVQVNASNLV SFFVAQATVT VQVLACREPE 2150
VDVVLPLQVL MRRSQRNYLE AHVDLRDCVT YQTEYRWEVY RTASCQRPGR 2200
PARVALPGVD VSRPRLVLPR LALPVGHYCF VFVVSFGDTP LTQSIQANVT 2250
VAPERLVPII EGGSYRVWSD TRDLVLDGSE SYDPNLEDGD QTPLSFHWAC 2300
VASTQREAGG CALNFGPRGS STVTIPRERL AAGVEYTFSL TVWKAGRKEE 2350
ATNQTVLIRS GRVPIVSLEC VSCKAQAVYE VSRSSYVYLE GRCLNCSSGS 2400
KRGRWAARTF SNKTLVLDET TTSTGSAGMR LVLRRGVLRD GEGYTFTLTV 2450
LGRSGEEEGC ASIRLSPNRP PLGGSCRLFP LGAVHALTTK VHFECTGWHD 2500
AEDAGAPLVY ALLLRRCRQG HCEEFCVYKG SLSSYGAVLP PGFRPHFEVG 2550
LAVVVQDQLG AAVVALNRSL AITLPEPNGS ATGLTVWLHG LTASVLPGLL 2600
RQADPQHVIE YSLALVTVLN EYERALDVAA EPKHERQHRA QIRKNITETL 2650
VSLRVHTVDD IQQIAAALAQ CMGPSRELVC RSCLKQTLHK LEAMMLILQA 2700
ETTAGTVTPT AIGDSILNIT GDLIHLASSD VRAPQPSELG AESPSRMVAS 2750
QAYNLTSALM RILMRSRVLN EEPLTLAGEE IVAQGKRSDP RSLLCYGGAP 2800
GPGCHFSIPE AFSGALANLS DVVQLIFLVD SNPFPFGYIS NYTVSTKVAS 2850
MAFQTQAGAQ IPIERLASER AITVKVPNNS DWAARGHRSS ANSANSVVVQ 2900
PQASVGAVVT LDSSNPAAGL HLQLNYTLLD GHYLSEEPEP YLAVYLHSEP 2950
RPNEHNCSAS RRIRPESLQG ADHRPYTFFI SPGSRDPAGS YHLNLSSHFR 3000
WSALQVSVGL YTSLCQYFSE EDMVWRTEGL LPLEETSPRQ AVCLTRHLTA 3050
FGASLFVPPS HVRFVFPEPT ADVNYIVMLT CAVCLVTYMV MAAILHKLDQ 3100
LDASRGRAIP FCGQRGRFKY EILVKTGWGR GSGTTAHVGI MLYGVDSRSG 3150
HRHLDGDRAF HRNSLDIFRI ATPHSLGSVW KIRVWHDNKG LSPAWFLQHV 3200
IVRDLQTARS AFFLVNDWLS VETEANGGLV EKEVLAASDA ALLRFRRLLV 3250
AELQRGFFDK HIWLSIWDRP PRSRFTRIQR ATCCVLLICL FLGANAVWYG 3300
AVGDSAYSTG HVSRLSPLSV DTVAVGLVSS VVVYPVYLAI LFLFRMSRSK 3350
VAGSPSPTPA GQQVLDIDSC LDSSVLDSSF LTFSGLHAEQ AFVGQMKSDL 3400
FLDDSKSLVC WPSGEGTLSW PDLLSDPSIV GSNLRQLARG QAGHGLGPEE 3450
DGFSLASPYS PAKSFSASDE DLIQQVLAEG VSSPAPTQDT HMETDLLSSL 3500
SSTPGEKTET LALQRLGELG PPSPGLNWEQ PQAARLSRTG LVEGLRKRLL 3550
PAWCASLAHG LSLLLVAVAV AVSGWVGASF PPGVSVAWLL SSSASFLASF 3600
LGWEPLKVLL EALYFSLVAK RLHPDEDDTL VESPAVTPVS ARVPRVRPPH 3650
GFALFLAKEE ARKVKRLHGM LRSLLVYMLF LLVTLLASYG DASCHGHAYR 3700
LQSAIKQELH SRAFLAITRS EELWPWMAHV LLPYVHGNQS SPELGPPRLR 3750
QVRLQEALYP DPPGPRVHTC SAAGGFSTSD YDVGWESPHN GSGTWAYSAP 3800
DLLGAWSWGS CAVYDSGGYV QELGLSLEES RDRLRFLQLH NWLDNRSRAV 3850
FLELTRYSPA VGLHAAVTLR LEFPAAGRAL AALSVRPFAL RRLSAGLSLP 3900
LLTSVCLLLF AVHFAVAEAR TWHREGRWRV LRLGAWARWL LVALTAATAL 3950
VRLAQLGAAD RQWTRFVRGR PRRFTSFDQV AQLSSAARGL AASLLFLLLV 4000
KAAQQLRFVR QWSVFGKTLC RALPELLGVT LGLVVLGVAY AQLAILLVSS 4050
CVDSLWSVAQ ALLVLCPGTG LSTLCPAESW HLSPLLCVGL WALRLWGALR 4100
LGAVILRWRY HALRGELYRP AWEPQDYEMV ELFLRRLRLW MGLSKVKEFR 4150
HKVRFEGMEP LPSRSSRGSK VSPDVPPPSA GSDASHPSTS SSQLDGLSVS 4200
LGRLGTRCEP EPSRLQAVFE ALLTQFDRLN QATEDVYQLE QQLHSLQGRR 4250
SSRAPAGSSR GPSPGLRPAL PSRLARASRG VDLATGPSRT PLRAKNKVHP 4300
SST 4303
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131L → Q in PKD1. 1 Publication
VAR_011030
Natural varianti36 – 361P → H.2 Publications
VAR_058759
Natural varianti61 – 611P → L in PKD1; unknown pathological significance. 2 Publications
VAR_058760
Natural varianti75 – 751S → F in PKD1. 1 Publication
VAR_011031
Natural varianti87 – 871L → M.1 Publication
VAR_058761
Natural varianti88 – 881A → V.1 Publication
VAR_012452
Natural varianti97 – 971D → G in PKD1. 1 Publication
VAR_064380
Natural varianti99 – 991S → I in PKD1; unknown pathological significance. 1 Publication
VAR_058762
Natural varianti139 – 1391W → C in PKD1. 1 Publication
VAR_011032
Natural varianti164 – 1641Q → R in PKD1. 1 Publication
VAR_058763
Natural varianti210 – 2101C → G in PKD1. 1 Publication
VAR_058764
Natural varianti324 – 3241R → L in PKD1. 1 Publication
VAR_010085
Natural varianti325 – 3251Y → C in PKD1. 1 Publication
VAR_068024
Natural varianti381 – 3811G → C in PKD1. 1 Publication
VAR_058765
Natural varianti436 – 4361C → R in PKD1. 1 Publication
VAR_064381
Natural varianti442 – 4421A → P in PKD1. 1 Publication
VAR_064382
Natural varianti508 – 5081C → R in PKD1. 1 Publication
Corresponds to variant rs58598099 [ dbSNP | Ensembl ].
VAR_058766
Natural varianti572 – 5721P → S.1 Publication
Corresponds to variant rs149022148 [ dbSNP | Ensembl ].
VAR_058767
Natural varianti594 – 5941F → Y in PKD1. 1 Publication
VAR_058768
Natural varianti611 – 6111R → W in PKD1. 1 Publication
VAR_068025
Natural varianti690 – 6901V → D in PKD1. 1 Publication
VAR_058769
Natural varianti698 – 6981Y → D in PKD1. 1 Publication
VAR_068026
Natural varianti727 – 7271L → P in PKD1. 2 Publications
VAR_064383
Natural varianti727 – 7271L → R in PKD1. 1 Publication
VAR_064384
Natural varianti738 – 7381P → R.
VAR_058770
Natural varianti739 – 7391R → Q.3 Publications
Corresponds to variant rs40433 [ dbSNP | Ensembl ].
VAR_058771
Natural varianti845 – 8451L → S in PKD1. 2 Publications
VAR_010086
Natural varianti950 – 9501L → P.
Corresponds to variant rs2369063 [ dbSNP | Ensembl ].
VAR_056696
Natural varianti967 – 9671W → R in PKD1. 1 Publication
VAR_012453
Natural varianti987 – 9871Q → H in PKD1. 1 Publication
VAR_058772
Natural varianti1092 – 10921M → T in PKD1. 4 Publications
Corresponds to variant rs2549677 [ dbSNP | Ensembl ].
VAR_056697
Natural varianti1114 – 11141L → R.
Corresponds to variant rs241573 [ dbSNP | Ensembl ].
VAR_056698
Natural varianti1166 – 11661G → S in PKD1. 1 Publication
VAR_011033
Natural varianti1168 – 11681P → S.1 Publication
Corresponds to variant rs146887330 [ dbSNP | Ensembl ].
VAR_058773
Natural varianti1206 – 12061V → G in PKD1. 1 Publication
VAR_068027
Natural varianti1240 – 12401Missing in PKD1. 1 Publication
VAR_058774
Natural varianti1242 – 12421T → M in PKD1; unknown pathological significance. 1 Publication
VAR_058775
Natural varianti1340 – 13401R → W in PKD1. 1 Publication
Corresponds to variant rs143690392 [ dbSNP | Ensembl ].
VAR_058776
Natural varianti1399 – 13991W → R.6 Publications
Corresponds to variant rs116092985 [ dbSNP | Ensembl ].
VAR_010087
Natural varianti1516 – 15161A → T.1 Publication
Corresponds to variant rs148164067 [ dbSNP | Ensembl ].
VAR_058777
Natural varianti1557 – 15571R → P.
Corresponds to variant rs241572 [ dbSNP | Ensembl ].
VAR_056699
Natural varianti1649 – 16491T → M.1 Publication
VAR_058778
Natural varianti1667 – 16671T → P in PKD1. 1 Publication
VAR_058779
Natural varianti1684 – 16841S → L.1 Publication
Corresponds to variant rs139520275 [ dbSNP | Ensembl ].
VAR_058780
Natural varianti1734 – 17341T → K.
Corresponds to variant rs241571 [ dbSNP | Ensembl ].
VAR_056700
Natural varianti1786 – 17861P → L Rare polymorphism. 1 Publication
VAR_010088
Natural varianti1811 – 18111E → K in PKD1. 2 Publications
VAR_058781
Natural varianti