Entity Details

Primary name PKD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP98161
EntryNamePKD1_HUMAN
FullNamePolycystin-1
TaxID9606
Evidenceevidence at protein level
Length4303
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesPKD1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001502 cartilage condensation
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0001889 liver development
GO:0001892 embryonic placenta development
GO:0002133 polycystin complex
GO:0005262 calcium channel activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005929 cilium
GO:0006611 protein export from nucleus
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007160 cell-matrix adhesion
GO:0007161 calcium-independent cell-matrix adhesion
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007259 receptor signaling pathway via JAK-STAT
GO:0007507 heart development
GO:0009653 anatomical structure morphogenesis
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0018105 peptidyl-serine phosphorylation
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0021510 spinal cord development
GO:0021915 neural tube development
GO:0030010 establishment of cell polarity
GO:0030155 regulation of cell adhesion
GO:0030246 carbohydrate binding
GO:0030660 Golgi-associated vesicle membrane
GO:0031514 motile cilium
GO:0032092 positive regulation of protein binding
GO:0034405 response to fluid shear stress
GO:0034703 cation channel complex
GO:0034704 calcium channel complex
GO:0036303 lymph vessel morphogenesis
GO:0042813 Wnt-activated receptor activity
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0043588 skin development
GO:0044325 transmembrane transporter binding
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048565 digestive tract development
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048806 genitalia development
GO:0050982 detection of mechanical stimulus
GO:0051216 cartilage development
GO:0051290 protein heterotetramerization
GO:0060170 ciliary membrane
GO:0060236 regulation of mitotic spindle organization
GO:0060271 cilium assembly
GO:0060428 lung epithelium development
GO:0060674 placenta blood vessel development
GO:0061136 regulation of proteasomal protein catabolic process
GO:0070062 extracellular exosome
GO:0070588 calcium ion transmembrane transport
GO:0072164 mesonephric tubule development
GO:0072177 mesonephric duct development
GO:0072205 metanephric collecting duct development
GO:0072218 metanephric ascending thin limb development
GO:0072237 metanephric proximal tubule development
GO:0072287 metanephric distal tubule morphogenesis
GO:0198738 cell-cell signaling by wnt
GO:2000045 regulation of G1/S transition of mitotic cell cycle

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Endoplasmic reticulum
Golgi apparatus

Domains

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DomainNameCategoryType
IPR000203 GPS motifDomainDomain
IPR000372 Leucine-rich repeat N-terminal domainDomainDomain
IPR000434 Polycystic kidney disease type 1 proteinFamilyFamily
IPR000483 Cysteine-rich flanking region, C-terminalDomainDomain
IPR000601 PKD domainDomainDomain
IPR001024 PLAT/LH2 domainDomainDomain
IPR001304 C-type lectin-likeDomainDomain
IPR001611 Leucine-rich repeatRepeatRepeat
IPR002859 PKD/REJ-like domainDomainDomain
IPR002889 Carbohydrate-binding WSCDomainDomain
IPR003591 Leucine-rich repeat, typical subtypeRepeatRepeat
IPR006228 Polycystin cation channelDomainDomain
IPR013122 Polycystin cation channel, PKD1/PKD2DomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR014010 REJ domainDomainDomain
IPR016186 C-type lectin-like/link domain superfamilyFamilyHomologous superfamily
IPR016187 C-type lectin foldFamilyHomologous superfamily
IPR022409 PKD/Chitinase domainDomainDomain
IPR032675 Leucine-rich repeat domain superfamilyFamilyHomologous superfamily
IPR035986 PKD domain superfamilyFamilyHomologous superfamily
IPR036392 PLAT/LH2 domain superfamilyFamilyHomologous superfamily
IPR042060 Polycystin-1 like, PLAT/LH2 domainDomainDomain

Diseases

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Disease IDSourceNameDescription
173900 OMIMPolycystic kidney disease 1 with or without polycystic liver disease (PKD1)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

39 interactions

InteractorPartnerSourcesPublicationsLink
PKD1_HUMANMCAF1_HUMANHPRD, MINT15231748 details
PKD1_HUMANABL1_HUMANIntAct17474147 details
PKD1_HUMANFYN_HUMANIntAct17474147 details
PKD1_HUMANPKD2_HUMANbhf-ucl, BioGRID, DIP, HPRD, MINT10097141 11901144 19556541 20168298 21126580 21642537 30093605 9192675 details
PKD1_HUMANNPHP1_HUMANBioGRID, MINT20856870 details
PKD1_HUMANLT4R2_HUMANBioGRID, MINT28298427 details
PKD1_HUMANRGS7_HUMANBioGRID, HPRD10339594 details
PKD1_HUMANFINC_HUMANBioGRID, HPRD11752017 details
PKD1_HUMANCO1A1_HUMANBioGRID11752017 details
PKD1_HUMANK1C18_HUMANBioGRID, HPRD11581269 details
PKD1_HUMANCO2A1_HUMANBioGRID, HPRD11406351 details
PKD1_HUMANSIAH1_HUMANBioGRID, HPRD15284290 details
PKD1_HUMANHDAC9_HUMANBioGRID15623513 15738054 details
PKD1_HUMANMARK2_HUMANBioGRID19011111 details
PKD1_HUMANPTPRG_HUMANBioGRID21126580 details
PKD1_HUMANPI51C_HUMANBioGRID27775029 details
PKD1_HUMANNCF1_HUMANBioGRID20856870 details
PKD1_HUMANNCK2_HUMANBioGRID20856870 details
PKD1_HUMANSRC_HUMANBioGRID, HPRD11113628 20856870 details
PKD1_HUMANVIME_HUMANHPRD11581269 details
PKD1_HUMANDESM_HUMANHPRD11581269 details
PKD1_HUMANK2C8_HUMANHPRD11581269 details
PKD1_HUMANPKD1_HUMANBioGRID11901144 details
PKD1_HUMANAT1A1_HUMANBioGRID11901144 details
PKD1_HUMANJADE1_HUMANBioGRID23001567 details
PKD1_HUMANFAK1_HUMANBioGRID11113628 27775029 details
PKD1_HUMANCTNB1_HUMANBioGRID, HPRD11113628 11274246 details
PKD1_HUMANGAN_HUMANBioGRID26460568 details
PKD1_HUMANAKT1_HUMANBioGRID24462114 details
PKD1_HUMANPTPRS_HUMANBioGRID21126580 details
PKD1_HUMANCADH1_HUMANBioGRID21126580 details
PKD1_HUMANPLAK_HUMANHPRD11274246 details
PKD1_HUMANTLN1_HUMANHPRD11113628 details
PKD1_HUMANVINC_HUMANHPRD11113628 details
PKD1_HUMANACTN1_HUMANHPRD11113628 details
PKD1_HUMANPAXI_HUMANHPRD11113628 details
PKD1_HUMANBCAR1_HUMANHPRD11113628 details
PKD1_HUMANCTNA1_HUMANHPRD11274246 details
PKD1_HUMANJAK2_HUMANHPRD12007403 details