InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PKD1

Summary

InnateDB Protein

IDBP-9932.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKD1

Protein Name

polycystic kidney disease 1 (autosomal dominant)

Synonyms

PBP; Pc-1; TRPP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000262304

InnateDB Gene

IDBG-9930 (PKD1)

Protein Structure

UniProt Annotation

Function

Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. {ECO:0000250, ECO:0000269PubMed:12482949}.

Subcellular Localization

Membrane {ECO:0000269PubMed:20980620}; Multi-pass membrane protein {ECO:0000269PubMed:20980620}. Cell projection, cilium {ECO:0000250}. 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.

Disease Associations

Polycystic kidney disease 1 (PKD1) [MIM:173900]: A disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. {ECO:0000269PubMed:10200984, ECO:0000269PubMed:10364515, ECO:0000269PubMed:10577909, ECO:0000269PubMed:10647901, ECO:0000269PubMed:10729710, ECO:0000269PubMed:10854095, ECO:0000269PubMed:10923040, ECO:0000269PubMed:10987650, ECO:0000269PubMed:11012875, ECO:0000269PubMed:11058904, ECO:0000269PubMed:11115377, ECO:0000269PubMed:11216660, ECO:0000269PubMed:11316854, ECO:0000269PubMed:11558899, ECO:0000269PubMed:11571556, ECO:0000269PubMed:11691639, ECO:0000269PubMed:11773467, ECO:0000269PubMed:11857740, ECO:0000269PubMed:11967008, ECO:0000269PubMed:12007219, ECO:0000269PubMed:12070253, ECO:0000269PubMed:12220456, ECO:0000269PubMed:12842373, ECO:0000269PubMed:15772804, ECO:0000269PubMed:18837007, ECO:0000269PubMed:21115670, ECO:0000269PubMed:22508176, ECO:0000269PubMed:8554072, ECO:0000269PubMed:9199561, ECO:0000269PubMed:9259200, ECO:0000269PubMed:9285784, ECO:0000269PubMed:9521593, ECO:0000269PubMed:9921908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	32 [view]
Protein-Protein	28 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005261	cation channel activity
GO:0005262	calcium channel activity
GO:0005515	protein binding
GO:0019901	protein kinase binding
GO:0019904	protein domain specific binding
GO:0030246	carbohydrate binding
GO:0044325	ion channel binding

Biological Process

GO:0001502	cartilage condensation
GO:0001568	blood vessel development
GO:0001701	in utero embryonic development
GO:0001822	kidney development
GO:0001889	liver development
GO:0001892	embryonic placenta development
GO:0006611	protein export from nucleus
GO:0006807	nitrogen compound metabolic process
GO:0006816	calcium ion transport
GO:0007050	cell cycle arrest
GO:0007156	homophilic cell adhesion
GO:0007160	cell-matrix adhesion
GO:0007161	calcium-independent cell-matrix adhesion
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007218	neuropeptide signaling pathway
GO:0007259	JAK-STAT cascade
GO:0007507	heart development
GO:0009653	anatomical structure morphogenesis
GO:0016337	single organismal cell-cell adhesion
GO:0018105	peptidyl-serine phosphorylation
GO:0021510	spinal cord development
GO:0021915	neural tube development
GO:0031659	positive regulation of cyclin-dependent protein kinase activity involved in G1/S
GO:0032092	positive regulation of protein binding
GO:0034405	response to fluid shear stress
GO:0042994	cytoplasmic sequestering of transcription factor
GO:0043588	skin development
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
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:0060236	regulation of mitotic spindle organization
GO:0060428	lung epithelium development
GO:0060674	placenta blood vessel development
GO:0061136	regulation of proteasomal protein catabolic process
GO:0070588	calcium ion transmembrane transport
GO:0072001	renal system development
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

Cellular Component

GO:0002133	polycystin complex
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005929	cilium
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016328	lateral plasma membrane
GO:0031512	motile primary cilium
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000203 GPS motif
IPR000372 Leucine-rich repeat-containing N-terminal
IPR000434 Polycystic kidney disease type 1 protein
IPR000483 Cysteine-rich flanking region, C-terminal
IPR000601 PKD domain
IPR001024 PLAT/LH2 domain
IPR001304 C-type lectin
IPR002859 PKD/REJ-like protein
IPR002889 Carbohydrate-binding WSC
IPR003591 Leucine-rich repeat, typical subtype
IPR006228 Polycystin cation channel
IPR008976 Lipase/lipooxygenase, PLAT/LH2
IPR009016 Iron hydrogenase
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR013994 Carbohydrate-binding WSC, subgroup
IPR014010 Egg jelly receptor, REJ-like
IPR016187 C-type lectin fold
IPR022409 PKD/Chitinase domain

PFAM