Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P98161

- PKD1_HUMAN

UniProt

P98161 - PKD1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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.By similarity1 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: UniProtKB-KW
  3. cation channel activity Source: BHF-UCL
  4. ion channel binding Source: BHF-UCL
  5. protein domain specific binding Source: BHF-UCL
  6. protein kinase binding Source: UniProtKB

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. branching morphogenesis of an epithelial tube Source: UniProtKB
  3. calcium-independent cell-matrix adhesion Source: ProtInc
  4. calcium ion transmembrane transport Source: GOC
  5. cartilage condensation Source: Ensembl
  6. cartilage development Source: UniProtKB
  7. cation transmembrane transport Source: GOC
  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. JAK-STAT cascade Source: BHF-UCL
  19. kidney development Source: BHF-UCL
  20. liver development Source: Ensembl
  21. lung epithelium development Source: UniProtKB
  22. mesonephric duct development Source: UniProtKB
  23. mesonephric tubule development Source: UniProtKB
  24. metanephric ascending thin limb development Source: UniProtKB
  25. metanephric collecting duct development Source: UniProtKB
  26. metanephric distal tubule morphogenesis Source: UniProtKB
  27. metanephric proximal tubule development Source: UniProtKB
  28. neural tube development Source: UniProtKB
  29. neuropeptide signaling pathway Source: InterPro
  30. nitrogen compound metabolic process Source: Ensembl
  31. peptidyl-serine phosphorylation Source: BHF-UCL
  32. placenta blood vessel development Source: BHF-UCL
  33. positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle Source: BHF-UCL
  34. positive regulation of cytosolic calcium ion concentration Source: Ensembl
  35. positive regulation of protein binding Source: BHF-UCL
  36. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  37. protein export from nucleus Source: BHF-UCL
  38. regulation of mitotic spindle organization Source: Ensembl
  39. regulation of proteasomal protein catabolic process Source: MGI
  40. response to fluid shear stress Source: Ensembl
  41. skin development Source: UniProtKB
  42. 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 1 Publication; Multi-pass membrane protein 1 Publication. 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.

GO - Cellular componenti

  1. basolateral plasma membrane Source: BHF-UCL
  2. cilium Source: BHF-UCL
  3. cytoplasm Source: BHF-UCL
  4. extracellular vesicular exosome Source: UniProt
  5. Golgi apparatus Source: Ensembl
  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.33 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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. 1 Publication
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. 1 Publication
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. 3 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. 1 Publication
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. 1 Publication
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. 1 Publication
VAR_011062
Natural varianti3016 – 30161Q → R in PKD1; does not undergo autoproteolytic cleavage. 1 Publication
VAR_010090
Natural varianti3027 – 303913Missing in PKD1. 1 Publication
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. 2 Publications
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 – 2323Sequence AnalysisAdd
BLAST
Chaini24 – 43034280Polycystin-1PRO_0000024298Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP98161.
PaxDbiP98161.
PRIDEiP98161.

PTM databases

PhosphoSiteiP98161.

Expressioni

Gene expression databases

BgeeiP98161.
CleanExiHS_PKD1.
ExpressionAtlasiP98161. baseline.
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

1
4303
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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP98161.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 30743051ExtracellularSequence AnalysisAdd
BLAST
Topological domaini3096 – 3282187CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini3304 – 332320ExtracellularSequence AnalysisAdd
BLAST
Topological domaini3345 – 3559215CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini3581 – 35822ExtracellularSequence Analysis
Topological domaini3604 – 367370CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini3695 – 3896202ExtracellularSequence AnalysisAdd
BLAST
Topological domaini3918 – 393821CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini3960 – 397920ExtracellularSequence AnalysisAdd
BLAST
Topological domaini4001 – 402727CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini4049 – 408537ExtracellularSequence AnalysisAdd
BLAST
Topological domaini4107 – 4303197CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei3075 – 309521HelicalSequence AnalysisAdd
BLAST
Transmembranei3283 – 330321HelicalSequence AnalysisAdd
BLAST
Transmembranei3324 – 334421HelicalSequence AnalysisAdd
BLAST
Transmembranei3560 – 358021HelicalSequence AnalysisAdd
BLAST
Transmembranei3583 – 360321HelicalSequence AnalysisAdd
BLAST
Transmembranei3674 – 369421HelicalSequence AnalysisAdd
BLAST
Transmembranei3897 – 391721HelicalSequence AnalysisAdd
BLAST
Transmembranei3939 – 395921HelicalSequence AnalysisAdd
BLAST
Transmembranei3980 – 400021HelicalSequence AnalysisAdd
BLAST
Transmembranei4028 – 404821HelicalSequence AnalysisAdd
BLAST
Transmembranei4086 – 410621HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili4220 – 425132Sequence AnalysisAdd
BLAST

Motif

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

Domaini

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

Sequence similaritiesi

Belongs to the polycystin family.Curated
Contains 1 C-type lectin domain.PROSITE-ProRule annotation
Contains 1 GPS domain.PROSITE-ProRule annotation
Contains 1 LDL-receptor class A domain.Curated
Contains 2 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated
Contains 1 LRRNT domain.Curated
Contains 17 PKD domains.PROSITE-ProRule annotation
Contains 1 PLAT domain.PROSITE-ProRule annotation
Contains 1 REJ domain.PROSITE-ProRule annotation
Contains 1 WSC domain.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiCOG3291.
GeneTreeiENSGT00700000104221.
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

        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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti71 – 711A → E in AAC50128. (PubMed:7736581)Curated
Sequence conflicti138 – 1381R → Q in AAC50128. (PubMed:7736581)Curated
Sequence conflicti253 – 2531P → A in AAC50128. (PubMed:7736581)Curated
Sequence conflicti302 – 3021A → D in AAC50128. (PubMed:7736581)Curated
Sequence conflicti691 – 6911P → A in AAC37576. (PubMed:7663510)Curated
Sequence conflicti691 – 6911P → A in AAC41765. (PubMed:7663510)Curated
Sequence conflicti763 – 7631A → G in AAC50128. (PubMed:7736581)Curated
Sequence conflicti774 – 7752AT → QR in AAC50128. (PubMed:7736581)Curated
Sequence conflicti792 – 7921L → M in AAC37576. (PubMed:7663510)Curated
Sequence conflicti792 – 7921L → M in AAC41765. (PubMed:7663510)Curated
Sequence conflicti866 – 8661V → L in AAC50128. (PubMed:7736581)Curated
Sequence conflicti884 – 8841G → A in AAC50128. (PubMed:7736581)Curated
Sequence conflicti1056 – 10561T → N in AAC37576. (PubMed:7663510)Curated
Sequence conflicti1056 – 10561T → N in AAC41765. (PubMed:7663510)Curated
Sequence conflicti1277 – 12771A → G in AAC50128. (PubMed:7736581)Curated
Sequence conflicti1724 – 17241A → T in AAC37576. (PubMed:7663510)Curated
Sequence conflicti1724 – 17241A → T in AAC41765. (PubMed:7663510)Curated
Sequence conflicti1976 – 19761V → M in AAC37576. (PubMed:7663510)Curated
Sequence conflicti1976 – 19761V → M in AAC41765. (PubMed:7663510)Curated
Sequence conflicti3982 – 39832QL → HV in AAC50128. (PubMed:7736581)Curated
Sequence conflicti4005 – 40062QL → HV in AAC50128. (PubMed:7736581)Curated

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