Protein

Polycystin-1

Gene

PKD1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.By similarity1 Publication

Caution

Variant Cys-2379 has been originally described as a benign polymorphism (PubMed:10854095). However, it is a likely pathogenic mutation (PubMed:22508176).2 Publications

GO - Molecular functionⁱ

calcium channel activity Source: BHF-UCL
carbohydrate binding Source: UniProtKB-KW
ion channel binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 9192675
protein domain specific binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 9171830
protein kinase binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17980165

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anatomical structure morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 9326937
branching morphogenesis of an epithelial tube
Source: UniProtKB
Inferred from direct assayⁱ
- 12482949
calcium-independent cell-matrix adhesion
Source: ProtInc
Traceable author statementⁱ
- 10861291
calcium ion transmembrane transport Source: BHF-UCL
cartilage condensation Source: Ensembl
cartilage development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
cell cycle arrest Source: BHF-UCL
cell-matrix adhesion
Source: ProtInc
Traceable author statementⁱ
- 7663510
cytoplasmic sequestering of transcription factor Source: BHF-UCL
detection of mechanical stimulus Source: BHF-UCL
digestive tract development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
embryonic placenta development Source: BHF-UCL
establishment of cell polarity Source: Ensembl
genitalia development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
heart development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
homophilic cell adhesion via plasma membrane adhesion molecules
Source: ProtInc
Traceable author statementⁱ
- 10861291
in utero embryonic development Source: BHF-UCL
JAK-STAT cascade Source: BHF-UCL
kidney development Source: BHF-UCL
liver development Source: Ensembl
lung epithelium development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
lymph vessel morphogenesis Source: Ensembl
mesonephric duct development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
mesonephric tubule development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
metanephric ascending thin limb development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
metanephric collecting duct development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
metanephric distal tubule morphogenesis
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
metanephric proximal tubule development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
neural tube development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
peptidyl-serine phosphorylation Source: BHF-UCL
placenta blood vessel development Source: BHF-UCL
positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
Source: BHF-UCL
Inferred from direct assayⁱ
- 16311606
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
Inferred from direct assayⁱ
- 16311606
protein export from nucleus Source: BHF-UCL
regulation of cell adhesion Source: Ensembl
regulation of mitotic spindle organization Source: Ensembl
regulation of proteasomal protein catabolic process
Source: MGI
Inferred from direct assayⁱ
- 23001567
response to fluid shear stress Source: Ensembl
skin development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195
spinal cord development
Source: UniProtKB
Inferred from expression patternⁱ
- 11891195

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Ligand	Lectin

Ligand

Lectin

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5620916 VxPx cargo-targeting to cilium
SignaLinkⁱ	P98161
SIGNORⁱ	P98161

Protein family/group databases

MEROPS protease database More...MEROPSⁱ	P02.036
TCDBⁱ	1.A.5.1.1 the polycystin cation channel (pcc) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Polycystin-1 Short name: PC1 Alternative name(s): Autosomal dominant polycystic kidney disease 1 protein
Gene namesⁱ	Name:PKD1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 16

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000008710.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9008 PKD1
MIMⁱ	601313 gene+phenotype
neXtProtⁱ	NX_P98161

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	24 – 3074	ExtracellularSequence analysisAdd BLAST	3051
Transmembraneⁱ	3075 – 3095	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3096 – 3282	CytoplasmicSequence analysisAdd BLAST	187
Transmembraneⁱ	3283 – 3303	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3304 – 3323	ExtracellularSequence analysisAdd BLAST	20
Transmembraneⁱ	3324 – 3344	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3345 – 3559	CytoplasmicSequence analysisAdd BLAST	215
Transmembraneⁱ	3560 – 3580	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3581 – 3582	ExtracellularSequence analysis	2
Transmembraneⁱ	3583 – 3603	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3604 – 3673	CytoplasmicSequence analysisAdd BLAST	70
Transmembraneⁱ	3674 – 3694	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3695 – 3896	ExtracellularSequence analysisAdd BLAST	202
Transmembraneⁱ	3897 – 3917	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3918 – 3938	CytoplasmicSequence analysisAdd BLAST	21
Transmembraneⁱ	3939 – 3959	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	3960 – 3979	ExtracellularSequence analysisAdd BLAST	20
Transmembraneⁱ	3980 – 4000	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	4001 – 4027	CytoplasmicSequence analysisAdd BLAST	27
Transmembraneⁱ	4028 – 4048	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	4049 – 4085	ExtracellularSequence analysisAdd BLAST	37
Transmembraneⁱ	4086 – 4106	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	4107 – 4303	CytoplasmicSequence analysisAdd BLAST	197

Keywords - Cellular componentⁱ

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Polycystic kidney disease 1 (PKD1)34 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5310
GeneReviewsⁱ	PKD1
MalaCards human disease database More...MalaCardsⁱ	PKD1
MIMⁱ	173900 phenotype 601313 gene+phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000008710
Orphanetⁱ	730 Autosomal dominant polycystic kidney disease 88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
PharmGKBⁱ	PA35521

Polymorphism and mutation 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	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

After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo.1 Publication

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Siteⁱ	3048 – 3049	Cleavage; by autolysis2 Publications		2

Keywords - PTMⁱ

Autocatalytic cleavage, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P98161
PaxDbⁱ	P98161
PeptideAtlas More...PeptideAtlasⁱ	P98161
PRIDEⁱ	P98161
ProteomicsDBⁱ	57797 57798 [P98161-2] 57799 [P98161-3]

PTM databases

iPTMnetⁱ	P98161
PhosphoSitePlusⁱ	P98161

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000008710
CleanExⁱ	HS_PKD1
ExpressionAtlasⁱ	P98161 baseline and differential
Genevisibleⁱ	P98161 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB046448

HPAⁱ

CAB046448

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
NPHP1	O15259	2	EBI-1752013,EBI-953828
PKD2	Q13563	8	EBI-1752013,EBI-7813714
PKD2	Q13563-1	5	EBI-1752013,EBI-9837017

Show more details

GO - Molecular functionⁱ

ion channel binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 9192675
protein domain specific binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 9171830
protein kinase binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17980165

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	111327, 19 interactors
CORUMⁱ	P98161
Database of interacting proteins More...DIPⁱ	DIP-52317N
IntActⁱ	P98161, 7 interactors
Molecular INTeraction database More...MINTⁱ	P98161
STRINGⁱ	9606.ENSP00000262304

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	276 – 278	Combined sources	3
Beta strandⁱ	285 – 296	Combined sources	12
Beta strandⁱ	301 – 306	Combined sources	6
Beta strandⁱ	313 – 317	Combined sources	5
Beta strandⁱ	320 – 325	Combined sources	6
Beta strandⁱ	327 – 338	Combined sources	12
Beta strandⁱ	343 – 353	Combined sources	11

3D structure databases

ProteinModelPortalⁱ	P98161
SMRⁱ	P98161
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P98161

EvolutionaryTraceⁱ

P98161

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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

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

Sequence similaritiesⁱ

Belongs to the polycystin family.Curated

Keywords - Domainⁱ

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

Phylogenomic databases

eggNOGⁱ	KOG3599 Eukaryota ENOG410XTGE LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00700000104221
HOGENOMⁱ	HOG000168445
HOVERGENⁱ	HBG049412
InParanoidⁱ	P98161
KEGG Orthology (KO) More...KOⁱ	K04985
OMAⁱ	VVFRWTI
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G004D
PhylomeDBⁱ	P98161
TreeFamⁱ	TF316484

Family and domain databases

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 IPR006228 Polycystin_cat IPR014010 REJ_dom IPR002889 WSC_carb-bd
Pfam protein domain database More...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

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 Add to basket Added to basket

Isoform 1 (identifier: P98161-1) [UniParc]FASTA Add 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

Isoform 2 (identifier: P98161-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
2497-2507: GWHDAEDAGAP → A
3390-3390: Missing.

« 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 VHFECTALVY 
      2510       2520       2530       2540       2550
ALLLRRCRQG HCEEFCVYKG SLSSYGAVLP PGFRPHFEVG LAVVVQDQLG 
      2560       2570       2580       2590       2600
AAVVALNRSL AITLPEPNGS ATGLTVWLHG LTASVLPGLL RQADPQHVIE 
      2610       2620       2630       2640       2650
YSLALVTVLN EYERALDVAA EPKHERQHRA QIRKNITETL VSLRVHTVDD 
      2660       2670       2680       2690       2700
IQQIAAALAQ CMGPSRELVC RSCLKQTLHK LEAMMLILQA ETTAGTVTPT 
      2710       2720       2730       2740       2750
AIGDSILNIT GDLIHLASSD VRAPQPSELG AESPSRMVAS QAYNLTSALM 
      2760       2770       2780       2790       2800
RILMRSRVLN EEPLTLAGEE IVAQGKRSDP RSLLCYGGAP GPGCHFSIPE 
      2810       2820       2830       2840       2850
AFSGALANLS DVVQLIFLVD SNPFPFGYIS NYTVSTKVAS MAFQTQAGAQ 
      2860       2870       2880       2890       2900
IPIERLASER AITVKVPNNS DWAARGHRSS ANSANSVVVQ PQASVGAVVT 
      2910       2920       2930       2940       2950
LDSSNPAAGL HLQLNYTLLD GHYLSEEPEP YLAVYLHSEP RPNEHNCSAS 
      2960       2970       2980       2990       3000
RRIRPESLQG ADHRPYTFFI SPGSRDPAGS YHLNLSSHFR WSALQVSVGL 
      3010       3020       3030       3040       3050
YTSLCQYFSE EDMVWRTEGL LPLEETSPRQ AVCLTRHLTA FGASLFVPPS 
      3060       3070       3080       3090       3100
HVRFVFPEPT ADVNYIVMLT CAVCLVTYMV MAAILHKLDQ LDASRGRAIP 
      3110       3120       3130       3140       3150
FCGQRGRFKY EILVKTGWGR GSGTTAHVGI MLYGVDSRSG HRHLDGDRAF 
      3160       3170       3180       3190       3200
HRNSLDIFRI ATPHSLGSVW KIRVWHDNKG LSPAWFLQHV IVRDLQTARS 
      3210       3220       3230       3240       3250
AFFLVNDWLS VETEANGGLV EKEVLAASDA ALLRFRRLLV AELQRGFFDK 
      3260       3270       3280       3290       3300
HIWLSIWDRP PRSRFTRIQR ATCCVLLICL FLGANAVWYG AVGDSAYSTG 
      3310       3320       3330       3340       3350
HVSRLSPLSV DTVAVGLVSS VVVYPVYLAI LFLFRMSRSK VAGSPSPTPA 
      3360       3370       3380       3390       3400
GQQVLDIDSC LDSSVLDSSF LTFSGLHAEA FVGQMKSDLF LDDSKSLVCW 
      3410       3420       3430       3440       3450
PSGEGTLSWP DLLSDPSIVG SNLRQLARGQ AGHGLGPEED GFSLASPYSP 
      3460       3470       3480       3490       3500
AKSFSASDED LIQQVLAEGV SSPAPTQDTH METDLLSSLS STPGEKTETL 
      3510       3520       3530       3540       3550
ALQRLGELGP PSPGLNWEQP QAARLSRTGL VEGLRKRLLP AWCASLAHGL 
      3560       3570       3580       3590       3600
SLLLVAVAVA VSGWVGASFP PGVSVAWLLS SSASFLASFL GWEPLKVLLE 
      3610       3620       3630       3640       3650
ALYFSLVAKR LHPDEDDTLV ESPAVTPVSA RVPRVRPPHG FALFLAKEEA 
      3660       3670       3680       3690       3700
RKVKRLHGML RSLLVYMLFL LVTLLASYGD ASCHGHAYRL QSAIKQELHS 
      3710       3720       3730       3740       3750
RAFLAITRSE ELWPWMAHVL LPYVHGNQSS PELGPPRLRQ VRLQEALYPD 
      3760       3770       3780       3790       3800
PPGPRVHTCS AAGGFSTSDY DVGWESPHNG SGTWAYSAPD LLGAWSWGSC 
      3810       3820       3830       3840       3850
AVYDSGGYVQ ELGLSLEESR DRLRFLQLHN WLDNRSRAVF LELTRYSPAV 
      3860       3870       3880       3890       3900
GLHAAVTLRL EFPAAGRALA ALSVRPFALR RLSAGLSLPL LTSVCLLLFA 
      3910       3920       3930       3940       3950
VHFAVAEART WHREGRWRVL RLGAWARWLL VALTAATALV RLAQLGAADR 
      3960       3970       3980       3990       4000
QWTRFVRGRP RRFTSFDQVA QLSSAARGLA ASLLFLLLVK AAQQLRFVRQ 
      4010       4020       4030       4040       4050
WSVFGKTLCR ALPELLGVTL GLVVLGVAYA QLAILLVSSC VDSLWSVAQA 
      4060       4070       4080       4090       4100
LLVLCPGTGL STLCPAESWH LSPLLCVGLW ALRLWGALRL GAVILRWRYH 
      4110       4120       4130       4140       4150
ALRGELYRPA WEPQDYEMVE LFLRRLRLWM GLSKVKEFRH KVRFEGMEPL 
      4160       4170       4180       4190       4200
PSRSSRGSKV SPDVPPPSAG SDASHPSTSS SQLDGLSVSL GRLGTRCEPE 
      4210       4220       4230       4240       4250
PSRLQAVFEA LLTQFDRLNQ ATEDVYQLEQ QLHSLQGRRS SRAPAGSSRG 
      4260       4270       4280       4290 
PSPGLRPALP SRLARASRGV DLATGPSRTP LRAKNKVHPS ST

Show »

Length:4,292

Mass (Da):461,365

Checksum:ⁱA5E38810302239F2

Isoform 3 (identifier: P98161-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
3390-3390: Missing.

« 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 LTFSGLHAEA FVGQMKSDLF 
      3410       3420       3430       3440       3450
LDDSKSLVCW PSGEGTLSWP DLLSDPSIVG SNLRQLARGQ AGHGLGPEED 
      3460       3470       3480       3490       3500
GFSLASPYSP AKSFSASDED LIQQVLAEGV SSPAPTQDTH METDLLSSLS 
      3510       3520       3530       3540       3550
STPGEKTETL ALQRLGELGP PSPGLNWEQP QAARLSRTGL VEGLRKRLLP 
      3560       3570       3580       3590       3600
AWCASLAHGL SLLLVAVAVA VSGWVGASFP PGVSVAWLLS SSASFLASFL 
      3610       3620       3630       3640       3650
GWEPLKVLLE ALYFSLVAKR LHPDEDDTLV ESPAVTPVSA RVPRVRPPHG 
      3660       3670       3680       3690       3700
FALFLAKEEA RKVKRLHGML RSLLVYMLFL LVTLLASYGD ASCHGHAYRL 
      3710       3720       3730       3740       3750
QSAIKQELHS RAFLAITRSE ELWPWMAHVL LPYVHGNQSS PELGPPRLRQ 
      3760       3770       3780       3790       3800
VRLQEALYPD PPGPRVHTCS AAGGFSTSDY DVGWESPHNG SGTWAYSAPD 
      3810       3820       3830       3840       3850
LLGAWSWGSC AVYDSGGYVQ ELGLSLEESR DRLRFLQLHN WLDNRSRAVF 
      3860       3870       3880       3890       3900
LELTRYSPAV GLHAAVTLRL EFPAAGRALA ALSVRPFALR RLSAGLSLPL 
      3910       3920       3930       3940       3950
LTSVCLLLFA VHFAVAEART WHREGRWRVL RLGAWARWLL VALTAATALV 
      3960       3970       3980       3990       4000
RLAQLGAADR QWTRFVRGRP RRFTSFDQVA QLSSAARGLA ASLLFLLLVK 
      4010       4020       4030       4040       4050
AAQQLRFVRQ WSVFGKTLCR ALPELLGVTL GLVVLGVAYA QLAILLVSSC 
      4060       4070       4080       4090       4100
VDSLWSVAQA LLVLCPGTGL STLCPAESWH LSPLLCVGLW ALRLWGALRL 
      4110       4120       4130       4140       4150
GAVILRWRYH ALRGELYRPA WEPQDYEMVE LFLRRLRLWM GLSKVKEFRH 
      4160       4170       4180       4190       4200
KVRFEGMEPL PSRSSRGSKV SPDVPPPSAG SDASHPSTSS SQLDGLSVSL 
      4210       4220       4230       4240       4250
GRLGTRCEPE PSRLQAVFEA LLTQFDRLNQ ATEDVYQLEQ QLHSLQGRRS 
      4260       4270       4280       4290       4300
SRAPAGSSRG PSPGLRPALP SRLARASRGV DLATGPSRTP LRAKNKVHPS 

ST

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Length:4,302

Mass (Da):462,401

Checksum:ⁱ23CADEBB778AC22D

Experimental Info

Feature key	Position(s)	DescriptionActions	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 in AAC50128 (PubMed:7736581).Curated	1
Sequence conflictⁱ	884	G → A in AAC50128 (PubMed:7736581).Curated	1
Sequence conflictⁱ	1056	T → N in AAC37576 (PubMed:7663510).Curated	1
Sequence conflictⁱ	1056	T → N in AAC41765 (PubMed:7663510).Curated	1
Sequence conflictⁱ	1277	A → G in AAC50128 (PubMed:7736581).Curated	1
Sequence conflictⁱ	1724	A → T in AAC37576 (PubMed:7663510).Curated	1
Sequence conflictⁱ	1724	A → T in AAC41765 (PubMed:7663510).Curated	1
Sequence conflictⁱ	1976	V → M in AAC37576 (PubMed:7663510).Curated	1
Sequence conflictⁱ	1976	V → M in AAC41765 (PubMed:7663510).Curated	1
Sequence conflictⁱ	3982 – 3983	QL → HV in AAC50128 (PubMed:7736581).Curated	2
Sequence conflictⁱ	4005 – 4006	QL → HV in AAC50128 (PubMed:7736581).Curated	2

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_011030	13	L → Q in PKD1. 1 Publication		1
Natural variantⁱVAR_058759

Feature key	Position(s)	DescriptionActions	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. 1 Publication	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 Publication	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:rs58598099Ensembl.	1
Natural variantⁱVAR_058768	594	F → Y in PKD1. 1 Publication	1
Natural variantⁱVAR_068025	611	R → W in PKD1. 1 Publication	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:rs1616940Ensembl.	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 Publication	1
Natural variantⁱVAR_056697	1092	M → T in PKD1. 4 PublicationsCorresponds to variant dbSNP:rs2549677EnsemblClinVar.	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. 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 Publication	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. 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 Publication	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 Publication	1
Natural variantⁱVAR_012455	2423	S → F in PKD1. 1 Publication	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 Publication	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. 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 Publication	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 Publication	1
Natural variantⁱVAR_011053	2771	E → K in PKD1; does not undergo autoproteolytic cleavage. 4 PublicationsCorresponds to variant dbSNP:rs1057518897Ensembl.	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; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs149151043EnsemblClinVar.	1
Natural variantⁱVAR_011056	2816	L → P in PKD1. 2 Publications	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 Publications	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 Publication	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:rs201780393Ensembl.	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:rs79000340Ensembl.	1
Natural variantⁱVAR_058808	3602	G → S in PKD1. 1 PublicationCorresponds to variant dbSNP:rs781492044Ensembl.	1
Natural variantⁱVAR_064392	3603	W → R in PKD1. 1 Publication	1
Natural variantⁱVAR_005542	3632	E → D in PKD1. 2 Publications	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 Publications	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 Publications	1
Natural variantⁱVAR_058812	3751	Q → R in PKD1. 1 Publication	1
Natural variantⁱVAR_011068	3753	R → W in PKD1. 3 Publications	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 Publication	1
Natural variantⁱVAR_010097	4154	R → C in PKD1. 1 PublicationCorresponds to variant dbSNP:rs115538130Ensembl.	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:rs114251396Ensembl.	1

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Supporting data

UniProtKB - P98161 (PKD1_HUMAN)

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Polycystin-1

PKD1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Other locations

Extracellular region or secreted

Golgi apparatus

Nucleus

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Sites

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Coiled coil

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ