UniProtKB - P98161 (PKD1_HUMAN)
Polycystin-1
PKD1
Functioni
Caution
GO - Molecular functioni
- calcium channel activity Source: BHF-UCL
- carbohydrate binding Source: UniProtKB-KW
- ion channel binding Source: BHF-UCL
- protein domain specific binding Source: BHF-UCL
- protein kinase binding Source: UniProtKB
- Wnt-activated receptor activity Source: UniProtKB
GO - Biological processi
- anatomical structure morphogenesis Source: ProtInc
- branching morphogenesis of an epithelial tube Source: UniProtKB
- calcium-independent cell-matrix adhesion Source: ProtInc
- calcium ion transmembrane transport Source: BHF-UCL
- cartilage condensation Source: Ensembl
- cartilage development Source: UniProtKB
- cell-cell signaling by wnt Source: UniProtKB
- cell cycle arrest Source: BHF-UCL
- cell-matrix adhesion Source: ProtInc
- cytoplasmic sequestering of transcription factor Source: BHF-UCL
- detection of mechanical stimulus Source: BHF-UCL
- digestive tract development Source: UniProtKB
- embryonic placenta development Source: BHF-UCL
- establishment of cell polarity Source: Ensembl
- genitalia development Source: UniProtKB
- heart development Source: UniProtKB
- homophilic cell adhesion via plasma membrane adhesion molecules Source: ProtInc
- in utero embryonic development Source: BHF-UCL
- kidney development Source: BHF-UCL
- liver development Source: Ensembl
- lung epithelium development Source: UniProtKB
- lymph vessel morphogenesis Source: Ensembl
- mesonephric duct development Source: UniProtKB
- mesonephric tubule development Source: UniProtKB
- metanephric ascending thin limb development Source: UniProtKB
- metanephric collecting duct development Source: UniProtKB
- metanephric distal tubule morphogenesis Source: UniProtKB
- metanephric proximal tubule development Source: UniProtKB
- neural tube development Source: UniProtKB
- peptidyl-serine phosphorylation Source: BHF-UCL
- placenta blood vessel development Source: BHF-UCL
- positive regulation of cyclin-dependent protein serine/threonine kinase activity Source: BHF-UCL
- positive regulation of cytosolic calcium ion concentration Source: Ensembl
- positive regulation of protein binding Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- protein export from nucleus Source: BHF-UCL
- protein heterotetramerization Source: UniProtKB
- receptor signaling pathway via JAK-STAT Source: BHF-UCL
- regulation of cell adhesion Source: Ensembl
- regulation of G1/S transition of mitotic cell cycle Source: BHF-UCL
- regulation of mitotic spindle organization Source: Ensembl
- regulation of proteasomal protein catabolic process Source: MGI
- response to fluid shear stress Source: Ensembl
- skin development Source: UniProtKB
- spinal cord development Source: UniProtKB
Keywordsi
Biological process | Wnt signaling pathway |
Ligand | Lectin |
Enzyme and pathway databases
PathwayCommonsi | P98161 |
Reactomei | R-HSA-5620916, VxPx cargo-targeting to cilium |
SignaLinki | P98161 |
SIGNORi | P98161 |
Protein family/group databases
MEROPSi | P02.036 |
TCDBi | 1.A.5.1.1, the polycystin cation channel (pcc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Polycystin-1CuratedShort name: PC1 Alternative name(s): Autosomal dominant polycystic kidney disease 1 protein |
Gene namesi | Name:PKD1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9008, PKD1 |
MIMi | 601313, gene+phenotype |
neXtProti | NX_P98161 |
VEuPathDBi | HostDB:ENSG00000008710.17 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Multi-pass membrane protein 2 Publications
Golgi apparatus
- Golgi apparatus By similarity
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Other locations
- cilium 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. PKD1:PKD2 interaction is required to reach the Golgi apparatus from endoplasmic reticulum and then traffic to the cilia (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053).By similarity1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- Golgi membrane Source: Reactome
Nucleus
- nucleus Source: BHF-UCL
Plasma Membrane
- basolateral plasma membrane Source: BHF-UCL
- ciliary membrane Source: Reactome
- integral component of plasma membrane Source: UniProtKB
- lateral plasma membrane Source: Ensembl
- plasma membrane Source: MGI
Other locations
- calcium channel complex Source: UniProtKB
- cation channel complex Source: UniProtKB
- cell surface Source: Ensembl
- cilium Source: MGI
- cytoplasm Source: BHF-UCL
- Golgi-associated vesicle membrane Source: Reactome
- integral component of membrane Source: BHF-UCL
- motile cilium Source: BHF-UCL
- polycystin complex Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 24 – 3074 | Extracellular1 PublicationAdd BLAST | 3051 | |
Transmembranei | 3075 – 3095 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3096 – 3277 | Cytoplasmic1 PublicationAdd BLAST | 182 | |
Transmembranei | 3278 – 3298 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3299 – 3323 | Extracellular1 PublicationAdd BLAST | 25 | |
Transmembranei | 3324 – 3344 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3345 – 3559 | Cytoplasmic1 PublicationAdd BLAST | 215 | |
Transmembranei | 3560 – 3580 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3581 – 3582 | Extracellular1 Publication | 2 | |
Transmembranei | 3583 – 3603 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3604 – 3665 | Cytoplasmic1 PublicationAdd BLAST | 62 | |
Transmembranei | 3666 – 3686 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3687 – 3901 | Extracellular1 PublicationAdd BLAST | 215 | |
Transmembranei | 3902 – 3922 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3923 – 3935 | Cytoplasmic1 PublicationAdd BLAST | 13 | |
Transmembranei | 3936 – 3956 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 3957 – 3984 | Extracellular1 PublicationAdd BLAST | 28 | |
Transmembranei | 3985 – 4005 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 4006 – 4027 | Cytoplasmic1 PublicationAdd BLAST | 22 | |
Transmembranei | 4028 – 4048 | Helical1 PublicationAdd BLAST | 21 | |
Topological domaini | 4049 – 4090 | Extracellular1 PublicationAdd BLAST | 42 | |
Transmembranei | 4091 – 4110 | Helical1 PublicationAdd BLAST | 20 | |
Topological domaini | 4111 – 4303 | Cytoplasmic1 PublicationAdd BLAST | 193 |
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Polycystic kidney disease 1 with or without polycystic liver disease (PKD1)34 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_011030 | 13 | L → Q in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058760 | 61 | P → L in PKD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs886038369EnsemblClinVar. | 1 | |
Natural variantiVAR_011031 | 75 | S → F in PKD1. 1 Publication | 1 | |
Natural variantiVAR_064380 | 97 | D → G in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058762 | 99 | S → I in PKD1; unknown pathological significance; nearly abolishes expression at the cell membrane. 2 Publications | 1 | |
Natural variantiVAR_011032 | 139 | W → C in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058763 | 164 | Q → R in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058764 | 210 | C → G in PKD1. 1 Publication | 1 | |
Natural variantiVAR_010085 | 324 | R → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs199476099EnsemblClinVar. | 1 | |
Natural variantiVAR_068024 | 325 | Y → C in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058765 | 381 | G → C in PKD1. 1 Publication | 1 | |
Natural variantiVAR_064381 | 436 | C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555458892EnsemblClinVar. | 1 | |
Natural variantiVAR_064382 | 442 | A → P in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058766 | 508 | C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs58598099EnsemblClinVar. | 1 | |
Natural variantiVAR_058768 | 594 | F → Y in PKD1. 1 Publication | 1 | |
Natural variantiVAR_068025 | 611 | R → W in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555458413EnsemblClinVar. | 1 | |
Natural variantiVAR_058769 | 690 | V → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_068026 | 698 | Y → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_064383 | 727 | L → P in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1616940EnsemblClinVar. | 1 | |
Natural variantiVAR_064384 | 727 | L → R in PKD1. 1 Publication | 1 | |
Natural variantiVAR_010086 | 845 | L → S in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs199476100EnsemblClinVar. | 1 | |
Natural variantiVAR_012453 | 967 | W → R in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058772 | 987 | Q → H in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1266492292Ensembl. | 1 | |
Natural variantiVAR_011033 | 1166 | G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs573566419EnsemblClinVar. | 1 | |
Natural variantiVAR_068027 | 1206 | V → G in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058774 | 1240 | Missing in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058775 | 1242 | T → M in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1033550407Ensembl. | 1 | |
Natural variantiVAR_058776 | 1340 | R → W in PKD1; likely benign variant. 1 PublicationCorresponds to variant dbSNP:rs143690392EnsemblClinVar. | 1 | |
Natural variantiVAR_058779 | 1667 | T → P in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058781 | 1811 | E → K in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs778028644Ensembl. | 1 | |
Natural variantiVAR_011034 | 1956 | V → E in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011035 | 1992 – 1993 | FT → L in PKD1. 1 Publication | 2 | |
Natural variantiVAR_058786 | 2083 | T → I in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1383930225Ensembl. | 1 | |
Natural variantiVAR_058787 | 2092 | Y → C in PKD1. 2 Publications | 1 | |
Natural variantiVAR_058788 | 2185 | Y → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058789 | 2200 | R → C in PKD1; likely benign variant. 2 PublicationsCorresponds to variant dbSNP:rs140869992EnsemblClinVar. | 1 | |
Natural variantiVAR_011037 | 2220 – 2224 | Missing in PKD1. 1 Publication | 5 | |
Natural variantiVAR_011038 | 2250 | T → M in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139971481EnsemblClinVar. | 1 | |
Natural variantiVAR_058790 | 2260 | Missing in PKD1. 2 Publications | 1 | |
Natural variantiVAR_011039 | 2329 | R → W in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200433577Ensembl. | 1 | |
Natural variantiVAR_011040 | 2336 | Y → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058791 | 2370 | C → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1567187445Ensembl. | 1 | |
Natural variantiVAR_058792 | 2373 | C → Y in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011041 | 2379 | Y → C in PKD1. 2 Publications | 1 | |
Natural variantiVAR_064385 | 2391 | G → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_012454 | 2392 | R → P in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011042 | 2408 | R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs538769374Ensembl. | 1 | |
Natural variantiVAR_058793 | 2421 | Missing in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058794 | 2422 | T → K in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555453210EnsemblClinVar. | 1 | |
Natural variantiVAR_012455 | 2423 | S → F in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1555453207Ensembl. | 1 | |
Natural variantiVAR_064386 | 2434 | R → W in PKD1. 1 PublicationCorresponds to variant dbSNP:rs151257298Ensembl. | 1 | |
Natural variantiVAR_011043 | 2443 | G → GG in PKD1. | 1 | |
Natural variantiVAR_012456 | 2471 | P → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1161298621Ensembl. | 1 | |
Natural variantiVAR_012457 | 2519 | Q → L in PKD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_064387 | 2546 | H → Y in PKD1. 1 PublicationCorresponds to variant dbSNP:rs200037070EnsemblClinVar. | 1 | |
Natural variantiVAR_064388 | 2569 | S → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs758896945Ensembl. | 1 | |
Natural variantiVAR_012459 | 2579 | Missing in PKD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_012461 | 2613 | Missing in PKD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_012462 | 2638 | H → R in PKD1; benign variant. 6 PublicationsCorresponds to variant dbSNP:rs9936785EnsemblClinVar. | 1 | |
Natural variantiVAR_064389 | 2646 | I → T in PKD1. 1 PublicationCorresponds to variant dbSNP:rs374500158Ensembl. | 1 | |
Natural variantiVAR_012463 | 2649 | T → I in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1490043027EnsemblClinVar. | 1 | |
Natural variantiVAR_012464 | 2696 | L → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs201238819EnsemblClinVar. | 1 | |
Natural variantiVAR_011049 | 2752 | A → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_005535 | 2763 | L → V in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011050 | 2765 | R → RILMR in PKD1. | 1 | |
Natural variantiVAR_068028 | 2767 | R → C in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011052 | 2768 | V → M in PKD1; associated with S-2858. 1 PublicationCorresponds to variant dbSNP:rs1456510041EnsemblClinVar. | 1 | |
Natural variantiVAR_011053 | 2771 | E → K in PKD1; does not undergo autoproteolytic cleavage. 4 PublicationsCorresponds to variant dbSNP:rs1057518897EnsemblClinVar. | 1 | |
Natural variantiVAR_058796 | 2785 | G → D in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058797 | 2802 | P → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs534112936EnsemblClinVar. | 1 | |
Natural variantiVAR_011055 | 2814 | G → R in PKD1; likely benign variant. 4 PublicationsCorresponds to variant dbSNP:rs149151043EnsemblClinVar. | 1 | |
Natural variantiVAR_011056 | 2816 | L → P in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1567177684EnsemblClinVar. | 1 | |
Natural variantiVAR_005538 | 2826 | I → T in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011057 | 2858 | G → S in PKD1; associated with M-2768. 1 PublicationCorresponds to variant dbSNP:rs755522953Ensembl. | 1 | |
Natural variantiVAR_064390 | 2889 | S → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs752447240Ensembl. | 1 | |
Natural variantiVAR_011060 | 2921 | H → P in PKD1; does not undergo autoproteolytic cleavage. 2 Publications | 1 | |
Natural variantiVAR_012466 | 2978 | Missing in PKD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_012467 | 2985 | R → G in PKD1. 1 PublicationCorresponds to variant dbSNP:rs373952574Ensembl. | 1 | |
Natural variantiVAR_010089 | 2993 | L → P in PKD1; does not undergo autoproteolytic cleavage. 2 PublicationsCorresponds to variant dbSNP:rs1555450487EnsemblClinVar. | 1 | |
Natural variantiVAR_068029 | 2995 | L → R in PKD1. 1 Publication | 1 | |
Natural variantiVAR_005539 | 3008 | V → L in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011062 | 3012 – 3017 | Missing in PKD1. 1 Publication | 6 | |
Natural variantiVAR_010090 | 3016 | Q → R in PKD1; does not undergo autoproteolytic cleavage. 2 Publications | 1 | |
Natural variantiVAR_058801 | 3027 – 3039 | Missing in PKD1. 1 PublicationAdd BLAST | 13 | |
Natural variantiVAR_012468 | 3039 | R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs200522524Ensembl. | 1 | |
Natural variantiVAR_011063 | 3066 | F → L in PKD1. 8 PublicationsCorresponds to variant dbSNP:rs9925969EnsemblClinVar. | 1 | |
Natural variantiVAR_058803 | 3138 | V → M in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1358566538Ensembl. | 1 | |
Natural variantiVAR_064391 | 3154 | L → P in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058804 | 3167 | I → F in PKD1. 1 PublicationCorresponds to variant dbSNP:rs139945204EnsemblClinVar. | 1 | |
Natural variantiVAR_058805 | 3188 | Missing in PKD1. 1 Publication | 1 | |
Natural variantiVAR_013838 | 3247 | R → H in PKD1. 1 PublicationCorresponds to variant dbSNP:rs140791671Ensembl. | 1 | |
Natural variantiVAR_012469 | 3285 | V → I in PKD1. 1 PublicationCorresponds to variant dbSNP:rs201780393EnsemblClinVar. | 1 | |
Natural variantiVAR_058806 | 3355 | P → L in PKD1. 1 PublicationCorresponds to variant dbSNP:rs781263445Ensembl. | 1 | |
Natural variantiVAR_005541 | 3375 | V → M in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs371283948Ensembl. | 1 | |
Natural variantiVAR_013839 | 3382 | T → M in PKD1. 1 PublicationCorresponds to variant dbSNP:rs776463508Ensembl. | 1 | |
Natural variantiVAR_010092 | 3511 | L → V in PKD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141946034EnsemblClinVar. | 1 | |
Natural variantiVAR_012471 | 3560 | G → R in PKD1. 1 PublicationCorresponds to variant dbSNP:rs79000340EnsemblClinVar. | 1 | |
Natural variantiVAR_058808 | 3602 | G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs781492044EnsemblClinVar. | 1 | |
Natural variantiVAR_064392 | 3603 | W → R in PKD1. 1 Publication | 1 | |
Natural variantiVAR_005542 | 3632 | E → D in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1416373452Ensembl. | 1 | |
Natural variantiVAR_058809 | 3649 | P → L in PKD1. 1 Publication | 1 | |
Natural variantiVAR_068030 | 3651 | G → S in PKD1. 1 Publication | 1 | |
Natural variantiVAR_005543 | 3678 | M → T in PKD1. 2 Publications | 1 | |
Natural variantiVAR_058810 | 3682 | L → P in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011067 | 3719 | R → Q in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1555446576EnsemblClinVar. | 1 | |
Natural variantiVAR_058811 | 3726 | W → S in PKD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_005544 | 3748 – 3752 | Missing in PKD1. 2 Publications | 5 | |
Natural variantiVAR_064393 | 3750 | R → Q in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs1327414405EnsemblClinVar. | 1 | |
Natural variantiVAR_058812 | 3751 | Q → R in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011068 | 3753 | R → W in PKD1. 3 PublicationsCorresponds to variant dbSNP:rs1167476946EnsemblClinVar. | 1 | |
Natural variantiVAR_011069 | 3815 | D → N in PKD1. 1 Publication | 1 | |
Natural variantiVAR_011070 | 3852 | L → P in PKD1. 2 Publications | 1 | |
Natural variantiVAR_058813 | 3954 | A → P in PKD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_010094 | 3996 | F → FLLF in PKD1. | 1 | |
Natural variantiVAR_005545 | 4032 | G → D in PKD1. 1 PublicationCorresponds to variant dbSNP:rs142768096Ensembl. | 1 | |
Natural variantiVAR_011071 | 4132 | Missing in PKD1. 1 Publication | 1 | |
Natural variantiVAR_010096 | 4136 | R → G in PKD1. 1 Publication | 1 | |
Natural variantiVAR_068031 | 4150 | R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs1282668884EnsemblClinVar. | 1 | |
Natural variantiVAR_010097 | 4154 | R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs115538130EnsemblClinVar. | 1 | |
Natural variantiVAR_058818 | 4155 | F → V in PKD1. 1 Publication | 1 | |
Natural variantiVAR_010099 | 4225 | Q → P in PKD1. 1 Publication | 1 | |
Natural variantiVAR_058819 | 4255 | P → S in PKD1. 1 Publication | 1 | |
Natural variantiVAR_010100 | 4276 | R → W in PKD1. 2 PublicationsCorresponds to variant dbSNP:rs114251396EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 3049 | T → C or S: Does not affect auto-cleavage. 1 Publication | 1 | |
Mutagenesisi | 3049 | T → G, R or V: Does not undergo auto-cleavage. 1 Publication | 1 |
Keywords - Diseasei
Ciliopathy, Disease variantOrganism-specific databases
DisGeNETi | 5310 |
GeneReviewsi | PKD1 |
MalaCardsi | PKD1 |
MIMi | 173900, phenotype 601313, gene+phenotype |
OpenTargetsi | ENSG00000008710 |
Orphaneti | 730, Autosomal dominant polycystic kidney disease 88924, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
PharmGKBi | PA35521 |
Miscellaneous databases
Pharosi | P98161, Tbio |
Chemistry databases
ChEMBLi | CHEMBL5772 |
Genetic variation databases
BioMutai | PKD1 |
DMDMi | 292495072 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Sequence analysisAdd BLAST | 23 | |
ChainiPRO_0000024298 | 24 – 4303 | Polycystin-1Add BLAST | 4280 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 50 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 89 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 116 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 121 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 187 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 436 ↔ 530 | By similarity | ||
Disulfide bondi | 508 ↔ 522 | By similarity | ||
Glycosylationi | 621 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 632 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 640 ↔ 653 | By similarity | ||
Disulfide bondi | 647 ↔ 665 | By similarity | ||
Disulfide bondi | 660 ↔ 669 | By similarity | ||
Glycosylationi | 746 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 810 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 841 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 854 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 890 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 921 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1004 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1010 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1034 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1072 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1113 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1178 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1194 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1240 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1269 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1336 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1348 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1382 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1450 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1455 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1474 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1518 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1541 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1554 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1563 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1647 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1661 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1733 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1791 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1834 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1867 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1880 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1991 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2050 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2074 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2125 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2248 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2353 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2395 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2412 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2567 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2578 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2645 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2718 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2754 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2841 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2878 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2925 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2956 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 2994 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 3738 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 3790 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 3845 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 4166 | Phosphoserine; by PRKX; in vitro1 Publication | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 3048 – 3049 | Cleavage; by autolysis2 Publications | 2 |
Keywords - PTMi
Autocatalytic cleavage, Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | P98161 |
MaxQBi | P98161 |
PaxDbi | P98161 |
PeptideAtlasi | P98161 |
PRIDEi | P98161 |
ProteomicsDBi | 57797 [P98161-1] 57798 [P98161-2] 57799 [P98161-3] |
PTM databases
GlyGeni | P98161, 60 sites |
iPTMneti | P98161 |
PhosphoSitePlusi | P98161 |
Expressioni
Gene expression databases
Bgeei | ENSG00000008710, Expressed in right hemisphere of cerebellum and 237 other tissues |
ExpressionAtlasi | P98161, baseline and differential |
Genevisiblei | P98161, HS |
Organism-specific databases
HPAi | ENSG00000008710, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Interacts with PKD2; the interaction is required for ciliary localization (PubMed:20881056).
Component of a heterotetrameric channel complex with PKD2; the tetramer contains one PKD1 chain and three PKD2 chains (PubMed:30093605).
Interacts with PKD2L1 (By similarity).
Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165).
Interacts (via extracellular domain) with WNT3A, WNT4, WNT5A and WNT9B (PubMed:27214281).
Interacts with DVL1 and DVL2 (PubMed:27214281).
Interacts with NPHP1 (via SH3 domain) (PubMed:20856870).
Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912).
Interacts with RGS7 (PubMed:10339594).
By similarity7 PublicationsBinary interactionsi
Hide detailsP98161
With | #Exp. | IntAct |
---|---|---|
NPHP1 [O15259] | 2 | EBI-1752013,EBI-953828 |
PKD2 [Q13563] | 8 | EBI-1752013,EBI-7813714 |
PKD2 - isoform 1 [Q13563-1] | 5 | EBI-1752013,EBI-9837017 |
Isoform 1 [P98161-1]
With | #Exp. | IntAct |
---|---|---|
PKD2 [Q13563] | 4 | EBI-1951183,EBI-7813714 |
Isoform 3 [P98161-3]
With | #Exp. | IntAct |
---|---|---|
PKD2 - isoform 1 [Q13563-1] | 4 | EBI-15930070,EBI-9837017 |
GO - Molecular functioni
- ion channel binding Source: BHF-UCL
- protein domain specific binding Source: BHF-UCL
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111327, 38 interactors |
ComplexPortali | CPX-4001, PKD1-PKD2 Polycystin complex |
CORUMi | P98161 |
DIPi | DIP-52317N |
IntActi | P98161, 12 interactors |
MINTi | P98161 |
STRINGi | 9606.ENSP00000262304 |
Chemistry databases
BindingDBi | P98161 |
Miscellaneous databases
RNActi | P98161, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P98161 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P98161 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 24 – 67 | LRRNTAdd BLAST | 44 | |
Repeati | 68 – 91 | LRR 1Add BLAST | 24 | |
Repeati | 92 – 113 | LRR 2Add BLAST | 22 | |
Domaini | 125 – 178 | LRRCTAdd BLAST | 54 | |
Domaini | 177 – 271 | WSCPROSITE-ProRule annotationAdd BLAST | 95 | |
Domaini | 272 – 359 | PKD 1PROSITE-ProRule annotationAdd BLAST | 88 | |
Domaini | 415 – 531 | C-type lectinPROSITE-ProRule annotationAdd BLAST | 117 | |
Domaini | 638 – 671 | LDL-receptor class A; atypicalAdd BLAST | 34 | |
Domaini | 743 – 817 | PKD 2PROSITE-ProRule annotationAdd BLAST | 75 | |
Domaini | 855 – 928 | PKD 3PROSITE-ProRule annotationAdd BLAST | 74 | |
Domaini | 935 – 1020 | PKD 4PROSITE-ProRule annotationAdd BLAST | 86 | |
Domaini | 1023 – 1129 | PKD 5PROSITE-ProRule annotationAdd BLAST | 107 | |
Domaini | 1127 – 1215 | PKD 6PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 1213 – 1298 | PKD 7PROSITE-ProRule annotationAdd BLAST | 86 | |
Domaini | 1294 – 1383 | PKD 8PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 1382 – 1469 | PKD 9PROSITE-ProRule annotationAdd BLAST | 88 | |
Domaini | 1468 – 1551 | PKD 10PROSITE-ProRule annotationAdd BLAST | 84 | |
Domaini | 1550 – 1635 | PKD 11PROSITE-ProRule annotationAdd BLAST | 86 | |
Domaini | 1634 – 1721 | PKD 12PROSITE-ProRule annotationAdd BLAST | 88 | |
Domaini | 1719 – 1805 | PKD 13PROSITE-ProRule annotationAdd BLAST | 87 | |
Domaini | 1807 – 1890 | PKD 14PROSITE-ProRule annotationAdd BLAST | 84 | |
Domaini | 1889 – 1974 | PKD 15PROSITE-ProRule annotationAdd BLAST | 86 | |
Domaini | 1977 – 2057 | PKD 16PROSITE-ProRule annotationAdd BLAST | 81 | |
Domaini | 2060 – 2148 | PKD 17PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 2146 – 2833 | REJPROSITE-ProRule annotationAdd BLAST | 688 | |
Domaini | 3012 – 3061 | GPSPROSITE-ProRule annotationAdd BLAST | 50 | |
Domaini | 3118 – 3233 | PLATPROSITE-ProRule annotationAdd BLAST | 116 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 4220 – 4251 | Sequence analysisAdd BLAST | 32 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3599, Eukaryota |
GeneTreei | ENSGT00940000158702 |
HOGENOMi | CLU_000173_0_0_1 |
InParanoidi | P98161 |
OMAi | VACLPDN |
OrthoDBi | 1276906at2759 |
PhylomeDBi | P98161 |
TreeFami | TF316484 |
Family and domain databases
CDDi | cd01752, PLAT_polycystin, 1 hit |
Gene3Di | 2.60.40.10, 11 hits 3.10.100.10, 1 hit 3.80.10.10, 2 hits |
InterProi | View protein in InterPro IPR001304, C-type_lectin-like IPR016186, C-type_lectin-like/link_sf IPR016187, CTDL_fold IPR000483, Cys-rich_flank_reg_C IPR000203, GPS IPR013783, Ig-like_fold IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf IPR000372, LRRNT IPR000434, PC1 IPR022409, PKD/Chitinase_dom IPR002859, PKD/REJ-like IPR013122, PKD1_2_channel IPR000601, PKD_dom IPR035986, PKD_dom_sf IPR001024, PLAT/LH2_dom IPR036392, PLAT/LH2_dom_sf IPR042060, PLAT_polycystin1 IPR006228, Polycystin_cat IPR014010, REJ_dom IPR002889, WSC_carb-bd |
Pfami | View protein in Pfam PF00059, Lectin_C, 1 hit PF13855, LRR_8, 1 hit PF00801, PKD, 15 hits PF08016, PKD_channel, 1 hit PF01477, PLAT, 1 hit PF02010, REJ, 1 hit PF01822, WSC, 1 hit |
PRINTSi | PR00500, POLYCYSTIN1 |
SMARTi | View protein in SMART SM00034, CLECT, 1 hit SM00303, GPS, 1 hit SM00308, LH2, 1 hit SM00369, LRR_TYP, 2 hits SM00082, LRRCT, 1 hit SM00013, LRRNT, 1 hit SM00089, PKD, 15 hits SM00321, WSC, 1 hit |
SUPFAMi | SSF49299, SSF49299, 13 hits SSF49723, SSF49723, 1 hit SSF56436, SSF56436, 1 hit |
TIGRFAMsi | TIGR00864, PCC, 1 hit |
PROSITEi | View protein in PROSITE PS50041, C_TYPE_LECTIN_2, 1 hit PS50221, GPS, 1 hit PS51450, LRR, 2 hits PS50093, PKD, 12 hits PS50095, PLAT, 1 hit PS51111, REJ, 1 hit PS51212, WSC, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BV77 | H3BV77_HUMAN | Polycystin-1 | PKD1 | 607 | Annotation score: | ||
H3BTE0 | H3BTE0_HUMAN | Polycystin-1 | PKD1 | 1,122 | Annotation score: | ||
H3BTG3 | H3BTG3_HUMAN | Polycystin-1 | PKD1 | 200 | Annotation score: | ||
H3BSE9 | H3BSE9_HUMAN | Polycystin-1 | PKD1 | 246 | Annotation score: | ||
H3BSE8 | H3BSE8_HUMAN | Polycystin-1 | PKD1 | 155 | Annotation score: | ||
H3BQF4 | H3BQF4_HUMAN | Polycystin-1 | PKD1 | 91 | Annotation score: | ||
I3L4N0 | I3L4N0_HUMAN | Polycystin-1 | PKD1 | 45 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 71 | A → E in AAC50128 (PubMed:7736581).Curated | 1 | |
Sequence conflicti | 138 | R → Q in AAC50128 (PubMed:7736581).Curated | 1 | |
Sequence conflicti | 253 | P → A in AAC50128 (PubMed:7736581).Curated | 1 | |
Sequence conflicti | 302 | A → D in AAC50128 (PubMed:7736581).Curated | 1 | |
Sequence conflicti | 691 | P → A in AAC37576 (PubMed:7663510).Curated | 1 | |
Sequence conflicti | 691 | P → A in AAC41765 (PubMed:7663510).Curated | 1 | |
Sequence conflicti | 763 | A → G in AAC50128 (PubMed:7736581).Curated | 1 | |
Sequence conflicti | 774 – 775 | AT → QR in AAC50128 (PubMed:7736581).Curated | 2 | |
Sequence conflicti | 792 | L → M in AAC37576 (PubMed:7663510).Curated | 1 | |
Sequence conflicti | 792 | L → M in AAC41765 (PubMed:7663510).Curated | 1 | |
Sequence conflicti | 866 | V → L i |