PKHD1


Summary: The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].

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GO terms in PKHD1


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Term Type
Evidence Type
GO Term ID
GO Des.
BP ISS GO:0001822 kidney development
BP IMP GO:0006874 cellular calcium ion homeostasis
BP IEA GO:0007165 signal transduction
BP IMP GO:0008284 positive regulation of cell proliferation
BP IMP GO:0010824 regulation of centrosome duplication
BP IBA GO:0030214 hyaluronan catabolic process
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Gene expression in normal tissue: PKHD1

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined41Apoptosis regulation2Metabolism1Protein stability and degradation1Purine metabolism1Neuroactive ligand-receptor interaction1Stilbenoid, diarylheptanoid and gingerol biosynthesis1WNT signaling1p53 pathway1Biosynthesis of secondary metabolites1

Pathways in PKHD1


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Pathway Des.
No matching records found

Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD782 DC-45-A2 6
iGMDRD870 BRD63610 2
iGMDRD885 Compound 110 2
iGMDRD318 PAC-1 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PKHD1

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Cancer
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No matching records found

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