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
Entrez Gene 5314
HGNC 9016
MIM 606702
UniProt P08F94  
 PKHD1 identified in exosomes derived from the following tissue/cell type
Urine 19056867    
 Gene ontology annotations for PKHD1
Molecular Function
    receptor activity GO:0004872 NAS
    protein binding GO:0005515 IPI
Biological Process
    single organismal cell-cell adhesion GO:0016337 ISS
    regulation of centrosome duplication GO:0010824 IMP
    homeostatic process GO:0042592 NAS
    negative regulation of NF-kappaB transcription factor activity GO:0032088 IMP
    regulation of TOR signaling GO:0032006 IMP
    negative regulation of protein kinase B signaling GO:0051898 IMP
    regulation of ERK1 and ERK2 cascade GO:0070372 IMP
    negative regulation of apoptotic process GO:0043066 IMP
    cilium assembly GO:0042384 ISS
    kidney development GO:0001822 ISS
    negative regulation of cellular component movement GO:0051271 ISS
    positive regulation of cell proliferation GO:0008284 IMP
    cellular calcium ion homeostasis GO:0006874 IMP
Subcellular Localization
    mitotic spindle GO:0072686 IDA
    ciliary basal body GO:0036064 IDA
    cytoplasm GO:0005737 IDA
    centrosome GO:0005813 IDA
    extracellular exosome GO:0070062 IDA
    apical plasma membrane GO:0016324 IDA
    perinuclear region of cytoplasm GO:0048471 IDA
    primary cilium GO:0072372 IDA
    anchored component of external side of plasma membrane GO:0031362 TAS
    integral component of membrane GO:0016021 IEA
 Experiment description of studies that identified PKHD1 in exosomes
1
Experiment ID 63
ISEV standards
EV Biophysical techniques
EV Cytosolic markers
AQP2
EV Membrane markers
EV Negative markers
EV 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
No interactions are found.
 Pathways in which PKHD1 is involved
No pathways found





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