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polycystic kidney and hepatic disease 1

Summary

Gene Symbol

Pkhd1

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

241035

PubChem

241035

Alliance of Genome Resources

MGI:2155808

Annotation

Keyword

Cell membrane
Cell projection
Centromere
Chromosome
Cytoskeleton
Endoplasmic reticulum
Glycoprotein
Golgi apparatus
Nucleus
Reference proteome
Repeat
Secreted
Signal
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q8CIS7	Polycystic kidney and hepatic disease 1 protein Polyductin
E9PZ36	Polycystic kidney and hepatic disease 1 protein Polyductin
Q6T3A5	Polycystic kidney and hepatic disease 1 protein Polyductin

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 29 in total

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GO Term	Evidence Code	PMID
establishment of mitotic spindle orientation	IMP	19959710
kidney development	IDA	15067314
regulation of cell-matrix adhesion	ISS
epithelial cell morphogenesis	ISS
intracellular calcium ion homeostasis	ISO

GO Hierarchy

biological process

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

microtubule cytoskeleton organization involved in mitosis [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

cell adhesion [inference]

cell-cell adhesion

cell cycle process [inference]

spindle localization [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

mitotic cell cycle process [inference]

microtubule cytoskeleton organization involved in mitosis [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

microtubule organizing center localization [inference]

centrosome localization [inference]

establishment of centrosome localization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

microtubule cytoskeleton organization involved in mitosis [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

cilium organization [inference]

cilium assembly

organelle assembly [inference]

cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

organelle assembly [inference]

cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

cell junction organization [inference]

cell-cell junction organization

multicellular organismal process [inference]

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube

developmental process [inference]

anatomical structure morphogenesis [inference]

cell morphogenesis [inference]

epithelial cell morphogenesis

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube

tube morphogenesis [inference]

branching morphogenesis of an epithelial tube

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube

anatomical structure development [inference]

animal organ development [inference]

kidney development

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

monoatomic cation homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular calcium ion homeostasis

inorganic ion homeostasis [inference]

calcium ion homeostasis [inference]

intracellular calcium ion homeostasis

localization [inference]

establishment of localization [inference]

establishment of localization in cell [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

establishment of centrosome localization

establishment of organelle localization [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

establishment of centrosome localization

organelle localization [inference]

spindle localization [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

establishment of organelle localization [inference]

establishment of spindle localization [inference]

establishment of mitotic spindle localization [inference]

establishment of mitotic spindle orientation

establishment of spindle orientation [inference]

establishment of mitotic spindle orientation

establishment of centrosome localization

microtubule organizing center localization [inference]

centrosome localization [inference]

establishment of centrosome localization

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of TOR signaling

regulation of MAPK cascade [inference]

regulation of ERK1 and ERK2 cascade

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

positive regulation of epithelial cell proliferation

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

negative regulation of epithelial cell apoptotic process

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of TOR signaling

regulation of MAPK cascade [inference]

regulation of ERK1 and ERK2 cascade

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of animal organ morphogenesis [inference]

regulation of establishment of planar polarity

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of TOR signaling

regulation of MAPK cascade [inference]

regulation of ERK1 and ERK2 cascade

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of cell adhesion

regulation of cell-substrate adhesion [inference]

regulation of cell-matrix adhesion

regulation of cell-cell adhesion

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of microtubule-based process [inference]

regulation of centrosome cycle [inference]

regulation of centrosome duplication

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation

positive regulation of epithelial cell proliferation

regulation of epithelial cell proliferation [inference]

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process

negative regulation of epithelial cell apoptotic process

regulation of epithelial cell apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

negative regulation of epithelial cell apoptotic process

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

positive regulation of epithelial cell proliferation

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

negative regulation of epithelial cell apoptotic process

regulation of cellular component organization [inference]

regulation of centrosome cycle [inference]

regulation of centrosome duplication

regulation of cell cycle [inference]

regulation of cell cycle process [inference]

regulation of centrosome cycle [inference]

regulation of centrosome duplication

regulation of molecular function [inference]

negative regulation of molecular function [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

regulation of DNA-binding transcription factor activity [inference]

negative regulation of DNA-binding transcription factor activity [inference]

negative regulation of NF-kappaB transcription factor activity

Displaying entries **1 - 5** of 20 in total

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GO Term	Evidence Code	PMID
chromosome, centromeric region	IEA
nucleus	IEA
cytoplasm	ISO
endoplasmic reticulum	IDA	28729032
Golgi apparatus	IDA	28729032

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

microtubule organizing center [inference]

cytosol

membrane [inference]

plasma membrane region [inference]

apical plasma membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

non-motile cilium [inference]

9+0 non-motile cilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

non-motile cilium [inference]

9+0 non-motile cilium

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

spindle [inference]

mitotic spindle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

spindle [inference]

mitotic spindle

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

perinuclear region of cytoplasm

chromosomal region [inference]

chromosome, centromeric region

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI	16243292 18235088 24586199 28154160

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

fibrocystin

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 5** entries
InterPro
G8 domain
IPT domain
Immunoglobulin E-set
Immunoglobulin-like fold
PA14/GLEYA domain

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0080212	polycystic kidney disease 4	Alliance of Genome Resources
DOID:0081394	Caroli syndrome	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements