PKD1
entrez
5310
canonical
uniprot
P98161
canonical
ensembl
ENSG00000008710
resolver
ensp
ENSP00000262304
resolver
ensp
ENSP00000399501
resolver
genesymbol
PKD1
resolver
hgnc
HGNC:9008
resolver
uniprot
Q15140
resolver
uniprot
Q15141
resolver
uniprot_entry
PKD1_HUMAN
resolver
uniprot_sec
Q15140
resolver
uniprot_sec
Q15141
resolver
amino_acid_sequence
MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALPWLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQVPVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQAETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASFLGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLPLLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVSLGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHPSST
uniprot
proteins
disease_involvement
DISEASE: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]: An autosomal dominant 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. {ECO:0000269|PubMed:10200984, ECO:0000269|PubMed:10364515, ECO:0000269|PubMed:10577909, ECO:0000269|PubMed:10647901, ECO:0000269|PubMed:10729710, ECO:0000269|PubMed:10854095, ECO:0000269|PubMed:10923040, ECO:0000269|PubMed:10987650, ECO:0000269|PubMed:11012875, ECO:0000269|PubMed:11058904, ECO:0000269|PubMed:11115377, ECO:0000269|PubMed:11216660, ECO:0000269|PubMed:11316854, ECO:0000269|PubMed:11558899, ECO:0000269|PubMed:11571556, ECO:0000269|PubMed:11691639, ECO:0000269|PubMed:11773467, ECO:0000269|PubMed:11857740, ECO:0000269|PubMed:11967008, ECO:0000269|PubMed:12007219, ECO:0000269|PubMed:12070253, ECO:0000269|PubMed:12220456, ECO:0000269|PubMed:12482949, ECO:0000269|PubMed:12842373, ECO:0000269|PubMed:15772804, ECO:0000269|PubMed:18837007, ECO:0000269|PubMed:21115670, ECO:0000269|PubMed:22508176, ECO:0000269|PubMed:8554072, ECO:0000269|PubMed:9199561, ECO:0000269|PubMed:9259200, ECO:0000269|PubMed:9285784, ECO:0000269|PubMed:9521593, ECO:0000269|PubMed:9921908}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). 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. Likely to be involved with polycystin-1-interacting protein 1 in the detection, sequestration and exocytosis of senescent mitochondria (PubMed:37681898). {ECO:0000250|UniProtKB:O08852, ECO:0000269|PubMed:12482949, ECO:0000269|PubMed:27214281, ECO:0000269|PubMed:37681898}.; FUNCTION: [Isoform 4]: Plays a role in mitochondrial dynamics. In immortalized renal cyst cells, converts fragmented mitochondria to a filamentous shape. {ECO:0000269|PubMed:41166294}.
uniprot
proteins
mass_dalton
462529
uniprot
proteins
mutagenesis
MUTAGEN 3049; /note="T->C,S: Does not affect auto-cleavage."; /evidence="ECO:0000269|PubMed:17525154"; MUTAGEN 3049; /note="T->G,R,V: Does not undergo auto-cleavage."; /evidence="ECO:0000269|PubMed:17525154
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:37681898}.; PTM: After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS region of the GAIN-B domain. Cleavage at the GPS region 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 region is incomplete. Uncleaved and cleaved products may have different functions in vivo. {ECO:0000269|PubMed:12482949}.
uniprot
proteins
protein_family
Polycystin family
uniprot
proteins
pubmed
10200984
uniprot
proteins
pubmed
10339594
uniprot
proteins
pubmed
10364515
uniprot
proteins
pubmed
10577909
uniprot
proteins
pubmed
10647901
uniprot
proteins
pubmed
10729710
uniprot
proteins
pubmed
10854095
uniprot
proteins
pubmed
10923040
uniprot
proteins
pubmed
10987650
uniprot
proteins
pubmed
11012875
uniprot
proteins
pubmed
11058904
uniprot
proteins
pubmed
11115377
uniprot
proteins
pubmed
11216660
uniprot
proteins
pubmed
11316854
uniprot
proteins
pubmed
11558899
uniprot
proteins
pubmed
11571556
uniprot
proteins
pubmed
11691639
uniprot
proteins
pubmed
11698076
uniprot
proteins
pubmed
11773467
uniprot
proteins
pubmed
11857740
uniprot
proteins
pubmed
11967008
uniprot
proteins
pubmed
12007219
uniprot
proteins
pubmed
12070253
uniprot
proteins
pubmed
12220456
uniprot
proteins
pubmed
12482949
uniprot
proteins
pubmed
12842373
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15772804
uniprot
proteins
pubmed
17525154
uniprot
proteins
pubmed
17980165
uniprot
proteins
pubmed
18837007
uniprot
proteins
pubmed
20856870
uniprot
proteins
pubmed
20881056
uniprot
proteins
pubmed
20980620
uniprot
proteins
pubmed
21115670
uniprot
proteins
pubmed
22508176
uniprot
proteins
pubmed
24939912
uniprot
proteins
pubmed
27214281
uniprot
proteins
pubmed
27259053
uniprot
proteins
pubmed
30093605
uniprot
proteins
pubmed
37681898
uniprot
proteins
pubmed
41166294
uniprot
proteins
pubmed
7663510
uniprot
proteins
pubmed
7736581
uniprot
proteins
pubmed
8004675
uniprot
proteins
pubmed
8069919
uniprot
proteins
pubmed
8554072
uniprot
proteins
pubmed
9150733
uniprot
proteins
pubmed
9199561
uniprot
proteins
pubmed
9259200
uniprot
proteins
pubmed
9285784
uniprot
proteins
pubmed
9521593
uniprot
proteins
pubmed
9889186
uniprot
proteins
pubmed
9921908
uniprot
proteins
sequence_length
4303
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10339594, ECO:0000269|PubMed:20980620, ECO:0000269|PubMed:27214281, ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:30093605}; Multi-pass membrane protein {ECO:0000269|PubMed:20980620, ECO:0000269|PubMed:30093605}. Cell projection, cilium {ECO:0000250|UniProtKB:O08852}. Endoplasmic reticulum {ECO:0000250|UniProtKB:O08852}. Golgi apparatus {ECO:0000250|UniProtKB:O08852}. Vesicle {ECO:0000269|PubMed:37681898}. Secreted, extracellular exosome {ECO:0000269|PubMed:37681898}. 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 region of the GAIN-B 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). Detected on migrasomes and on extracellular exosomes in urine (PubMed:37681898). {ECO:0000250|UniProtKB:O08852, ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:37681898}.; SUBCELLULAR LOCATION: [Isoform 4]: Note=Component of endoplasmic reticulum-mitochondrion membrane contact sites. {ECO:0000269|PubMed:41166294}.
uniprot
proteins
transmembrane_region
TRANSMEM 3075..3095; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3278..3298; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3324..3344; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3560..3580; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3583..3603; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3666..3686; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3902..3922; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3936..3956; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 3985..4005; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 4028..4048; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605"; TRANSMEM 4091..4110; /note="Helical"; /evidence="ECO:0000269|PubMed:30093605
uniprot
proteins