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P98161

- PKD1_HUMAN

UniProt

P98161 - PKD1_HUMAN

Protein

Polycystin-1

Gene

PKD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 183 (01 Oct 2014)
      Sequence version 3 (23 Mar 2010)
      Previous versions | rss
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    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: 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

    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. cell cycle arrest Source: BHF-UCL
    8. cell-matrix adhesion Source: ProtInc
    9. cytoplasmic sequestering of transcription factor Source: BHF-UCL
    10. detection of mechanical stimulus Source: BHF-UCL
    11. digestive tract development Source: UniProtKB
    12. embryonic placenta development Source: BHF-UCL
    13. genitalia development Source: UniProtKB
    14. heart development Source: UniProtKB
    15. homophilic cell adhesion Source: ProtInc
    16. in utero embryonic development Source: BHF-UCL
    17. JAK-STAT cascade 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

    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

    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.
    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. 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.
    VAR_011062
    Natural varianti3016 – 30161Q → R in PKD1; does not undergo autoproteolytic cleavage. 1 Publication
    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. 1 Publication
    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

    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

    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.
    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

    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
    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