Gene description for PKHD1
Gene name polycystic kidney and hepatic disease 1 (autosomal recessive)
Gene symbol PKHD1
Other names/aliases ARPKD
FCYT
TIGM1
Species Homo sapiens
 Database cross references - PKHD1
ExoCarta ExoCarta_5314
Vesiclepedia VP_5314
Entrez Gene 5314
HGNC 9016
MIM 606702
UniProt P08F94  
 PKHD1 identified in sEVs derived from the following tissue/cell type
Urine 19056867    
 Gene ontology annotations for PKHD1
Molecular Function
    protein binding GO:0005515 IPI
    signaling receptor activity GO:0038023 NAS
Biological Process
    establishment of mitotic spindle orientation GO:0000132 ISS
    kidney development GO:0001822 IEA
    regulation of cell-matrix adhesion GO:0001952 ISS
    epithelial cell morphogenesis GO:0003382 ISS
    intracellular calcium ion homeostasis GO:0006874 IMP
    positive regulation of cell population proliferation GO:0008284 IMP
    regulation of centrosome duplication GO:0010824 IMP
    regulation of cell-cell adhesion GO:0022407 ISS
    regulation of cell adhesion GO:0030155 ISS
    regulation of TOR signaling GO:0032006 IMP
    negative regulation of NF-kappaB transcription factor activity GO:0032088 IMP
    homeostatic process GO:0042592 NAS
    negative regulation of apoptotic process GO:0043066 IMP
    cell-cell junction organization GO:0045216 ISS
    branching morphogenesis of an epithelial tube GO:0048754 ISS
    branching morphogenesis of an epithelial tube GO:0048754 ISS
    positive regulation of epithelial cell proliferation GO:0050679 ISS
    establishment of centrosome localization GO:0051660 ISS
    negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction GO:0051898 IMP
    cilium assembly GO:0060271 IEA
    regulation of ERK1 and ERK2 cascade GO:0070372 IMP
    regulation of establishment of planar polarity GO:0090175 ISS
    cell-cell adhesion GO:0098609 ISS
    negative regulation of epithelial cell apoptotic process GO:1904036 ISS
    regulation of cholangiocyte proliferation GO:1904054 IMP
Subcellular Localization
    chromosome, centromeric region GO:0000775 IEA
    nucleus GO:0005634 IEA
    cytoplasm GO:0005737 IDA
    endoplasmic reticulum GO:0005783 ISS
    Golgi apparatus GO:0005794 ISS
    centrosome GO:0005813 IDA
    cilium GO:0005929 IDA
    cilium GO:0005929 IMP
    external side of plasma membrane GO:0009897 TAS
    apical plasma membrane GO:0016324 IDA
    ciliary basal body GO:0036064 IDA
    perinuclear region of cytoplasm GO:0048471 IDA
    extracellular exosome GO:0070062 HDA
    extracellular exosome GO:0070062 ISS
    mitotic spindle GO:0072686 IDA
    9+0 non-motile cilium GO:0097731 IEA
 Experiment description of studies that identified PKHD1 in sEVs
1
Experiment ID 63
MISEV standards
✘ Biophysical techniques
✔
AQP2
Enriched markers
✘ Negative markers
✘ Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 19056867    
Organism Homo sapiens
Experiment description Large-scale proteomics and phosphoproteomics of urinary exosomes.
Authors "Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS, Knepper MA"
Journal name JASN
Publication year 2009
Sample Urine
Sample name Urine - Normal
Isolation/purification methods Differential centrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry [LTQ]
Western blotting
 Protein-protein interactions for PKHD1
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 LGR4 55366
Affinity Capture-MS Homo sapiens
2 PSMD14 10213
Affinity Capture-MS Homo sapiens
3 PRPF19 27339
Cross-Linking-MS (XL-MS) Homo sapiens
View the network image/svg+xml
 Pathways in which PKHD1 is involved
No pathways found





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