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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 **1 - 5** of 24 in total

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GO Term	Evidence Code	PMID
positive regulation of cell population proliferation	IMP	19943112
cell-cell adhesion	ISS
branching morphogenesis of an epithelial tube	ISS
regulation of cholangiocyte proliferation	IMP	30898581
regulation of cell adhesion	ISS

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 **6 - 10** of 14 in total

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GO Term	Evidence Code	PMID
centrosome	IDA	20554582
ciliary basal body	IDA	14978161 14983006
perinuclear region of cytoplasm	IDA	20709014
cytoplasm	IDA	20709014
9+0 non-motile cilium	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 **41 - 48** of 48 in total

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Species	Gene ID	OrthoDB	Orthologous MAtrix
Phascolarctos cinereus	110213527		PHACI08027
Bos indicus x Bos taurus	113882230		BOBOX10785
Vombatus ursinus	114026548		VOMUR30429
Corvus moneduloides	116441985		CORMO17226
Rhinolophus ferrumequinum	117020299		RHIFE11183
Balaenoptera musculus	118903767		BALMU25551
Panthera leo	122220015		PANLE15560
Pongo pygmaeus	129038824	9600_0:001cb4

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements