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PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Summary

Gene Symbol

PKHD1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5314

PubChem

5314

Alliance of Genome Resources

HGNC:9016

Annotation

Keyword

Alternative splicing
Cell membrane
Centromere
Chromosome
Ciliopathy
Cilium
Cytoskeleton
Disease variant
Endoplasmic reticulum
Glycoprotein
Golgi apparatus
Nucleus
Receptor
Reference proteome
Repeat
Secreted
Signal
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P08F94	Polycystic kidney and hepatic disease 1 protein Polyductin Tigmin

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **21 - 24** of 24 in total

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GO Term	Evidence Code	PMID
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	21300060
regulation of cell-matrix adhesion	ISS
negative regulation of epithelial cell apoptotic process	ISS
homeostatic process	NAS	11919560

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

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 14 in total

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GO Term	Evidence Code	PMID
external side of plasma membrane	TAS	11919560
Golgi apparatus	ISS
apical plasma membrane	IDA	16243292
endoplasmic reticulum	ISS
nucleus	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

microtubule organizing center [inference]

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

side of membrane [inference]

external side of plasma membrane

chromosomal region [inference]

chromosome, centromeric region

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	16243292 18235088 20048263 20709014
signaling receptor activity	NAS	11919560

GO Hierarchy

molecular function

binding [inference]

protein binding

molecular transducer activity [inference]

signaling receptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Leucine Rich repeat

Functional Category

O: Posttranslational modification, protein turnover, chaperones
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
InterPro
Leucine-rich repeat domain superfamily
Leucine-rich repeat

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

Ortholog

Displaying entries **21 - 30** of 48 in total

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Species	Gene ID	OrthoDB	Orthologous MAtrix
Gorilla gorilla gorilla	101150222	9595_0:001edd	GORGO36768
Tursiops truncatus	101331057		TURTR12724
Jaculus jaculus	101599405		JACJA00500
Mustela putorius furo	101673150		MUSPF05083
Ictidomys tridecemlineatus	101962724		ICTTR16287
Chinchilla lanigera	102003100		CHILA03066
Macaca fascicularis	102121253		MACFA32029
Capra hircus	102170370		CAPHI15562
Myotis lucifugus	102435848		MYOLU07759
Ursus maritimus	103664011		URSMA13782

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements