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MIRAGE

polycystin 1, transient receptor potential channel interacting

Summary

Gene Symbol

PKD1

Aliases

PBP
Pc-1
TRPP1
polycystin 1
transient receptor potential cation channel, subfamily P, member 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5310

HGNC

9008

KEGG Gene ID

["hsa:5310"]

PubChem

5310

Alliance of Genome Resources

HGNC:9008

JoGo

PKD1

TogoVar

PKD1

Annotation

Keyword

3D-structure
Alternative splicing
Autocatalytic cleavage
Cell membrane
Ciliopathy
Cilium
Coiled coil
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Golgi apparatus
Lectin
Leucine-rich repeat
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Secreted
Signal
Transmembrane helix
Wnt signaling pathway

Proteins

Displaying 1 entry
UniProt	Protein Name
P98161	Autosomal dominant polycystic kidney disease 1 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 63 in total

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GO Term	Evidence Code	PMID
cartilage condensation
in utero embryonic development	ISS
kidney development	ISS
kidney development	IEA
liver development

GO Hierarchy

biological process

cellular process [inference]

cell adhesion [inference]

cell-substrate adhesion [inference]

cell-matrix adhesion

calcium-independent cell-matrix adhesion

cell-cell adhesion

homophilic cell-cell adhesion

establishment or maintenance of cell polarity [inference]

establishment of cell polarity

signal transduction [inference]

cell surface receptor signaling pathway

Wnt signaling pathway

cell surface receptor signaling pathway via STAT [inference]

cell surface receptor signaling pathway via JAK-STAT

metabolic process [inference]

nitrogen cycle metabolic process

intercellular transport [inference]

nuclear export [inference]

protein export from nucleus

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport [inference]

protein export from nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export [inference]

protein export from nucleus

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

mitochondrion organization

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein tetramerization [inference]

protein heterotetramerization

protein heterooligomerization [inference]

protein heterotetramerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein tetramerization [inference]

protein heterotetramerization

protein heterooligomerization [inference]

protein heterotetramerization

cell aggregation [inference]

cartilage condensation

export from cell [inference]

migracytosis [inference]

mitocytosis

reproductive process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

genitalia development

multicellular organismal process [inference]

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development

in utero embryonic development

developmental process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

genitalia development

anatomical structure morphogenesis

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube

animal organ morphogenesis

tube morphogenesis [inference]

branching morphogenesis of an epithelial tube

epithelial tube morphogenesis [inference]

renal tubule morphogenesis [inference]

nephron tubule morphogenesis [inference]

distal tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

metanephric nephron tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

metanephric tubule morphogenesis [inference]

metanephric nephron tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

lymph vessel morphogenesis

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

epithelial tube morphogenesis [inference]

renal tubule morphogenesis [inference]

nephron tubule morphogenesis [inference]

distal tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

metanephric nephron tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

metanephric tubule morphogenesis [inference]

metanephric nephron tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube

nephron epithelium morphogenesis [inference]

nephron tubule morphogenesis [inference]

distal tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

metanephric nephron tubule morphogenesis [inference]

metanephric distal tubule morphogenesis

anatomical structure development [inference]

blood vessel development [inference]

placenta blood vessel development

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development

in utero embryonic development

tissue development [inference]

epithelium development [inference]

renal tubule development [inference]

nephron tubule development [inference]

proximal tubule development [inference]

metanephric proximal tubule development

ascending thin limb development [inference]

metanephric ascending thin limb development

metanephric nephron tubule development [inference]

kidney epithelium development [inference]

nephron epithelium development [inference]

nephron tubule development [inference]

proximal tubule development [inference]

metanephric proximal tubule development

ascending thin limb development [inference]

metanephric ascending thin limb development

metanephric nephron tubule development [inference]

metanephric nephron epithelium development [inference]

metanephric nephron tubule development [inference]

mesonephric epithelium development [inference]

mesonephric tubule development

mesonephric duct development

nephric duct development [inference]

mesonephric duct development

metanephric epithelium development [inference]

metanephric tubule development [inference]

metanephric nephron tubule development [inference]

metanephric nephron epithelium development [inference]

metanephric nephron tubule development [inference]

spinal cord development

tube development [inference]

renal tubule development [inference]

nephron tubule development [inference]

proximal tubule development [inference]

metanephric proximal tubule development

ascending thin limb development [inference]

metanephric ascending thin limb development

metanephric nephron tubule development [inference]

collecting duct development [inference]

metanephric collecting duct development

mesonephric tubule development

mesonephric duct development

metanephric tubule development [inference]

metanephric nephron tubule development [inference]

nephric duct development [inference]

mesonephric duct development

animal organ development [inference]

embryonic organ development [inference]

embryonic placenta development

gland development [inference]

liver development

reproductive structure development [inference]

genitalia development

response to stimulus [inference]

response to stress [inference]

response to fluid shear stress

response to external stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus

response to mechanical stimulus [inference]

detection of mechanical stimulus

response to abiotic stimulus [inference]

detection of abiotic stimulus [inference]

detection of mechanical stimulus

response to mechanical stimulus [inference]

detection of mechanical stimulus

detection of stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus

detection of abiotic stimulus [inference]

detection of mechanical stimulus

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

protein export from nucleus

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

calcium ion transport

calcium ion transmembrane transport

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

intercellular transport [inference]

nuclear export [inference]

protein export from nucleus

protein transport [inference]

intracellular protein transport [inference]

protein export from nucleus

intracellular transport [inference]

intracellular protein transport [inference]

protein export from nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export [inference]

protein export from nucleus

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

calcium ion transmembrane transport

export from cell [inference]

migracytosis [inference]

mitocytosis

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport [inference]

protein export from nucleus

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport [inference]

protein export from nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export [inference]

protein export from nucleus

establishment of organelle localization [inference]

establishment of mitochondrion localization [inference]

mitocytosis

organelle localization [inference]

mitochondrion localization [inference]

mitochondrion distribution [inference]

mitocytosis

establishment of mitochondrion localization [inference]

mitocytosis

establishment of organelle localization [inference]

establishment of mitochondrion localization [inference]

mitocytosis

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport [inference]

protein export from nucleus

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export [inference]

protein export from nucleus

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway

Wnt signaling pathway

cell surface receptor signaling pathway via STAT [inference]

cell surface receptor signaling pathway via JAK-STAT

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of catabolic process [inference]

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of protein metabolic process [inference]

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of protein metabolic process [inference]

regulation of protein catabolic process [inference]

regulation of proteasomal protein catabolic process

regulation of cell adhesion

regulation of microtubule-based process [inference]

regulation of microtubule cytoskeleton organization [inference]

regulation of spindle organization [inference]

regulation of mitotic spindle organization

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

regulation of cytoskeleton organization [inference]

regulation of microtubule cytoskeleton organization [inference]

regulation of spindle organization [inference]

regulation of mitotic spindle organization

regulation of cell cycle

regulation of mitotic cell cycle [inference]

regulation of mitotic cell cycle phase transition [inference]

regulation of G1/S transition of mitotic cell cycle

regulation of cell cycle process

regulation of spindle organization [inference]

regulation of mitotic spindle organization

regulation of cell cycle phase transition [inference]

regulation of mitotic cell cycle phase transition [inference]

regulation of G1/S transition of mitotic cell cycle

regulation of cell cycle G1/S phase transition [inference]

regulation of G1/S transition of mitotic cell cycle

regulation of biological quality [inference]

positive regulation of cytosolic calcium ion concentration

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GO Term	Evidence Code	PMID
Golgi membrane	TAS
polycystin complex	ISS
polycystin complex	IPI
polycystin complex	IEA
extracellular region	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

polycystin complex

membrane protein complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex

calcium channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

cation channel complex

calcium channel complex

cellular anatomical structure [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

Golgi-associated vesicle membrane

bounding membrane of organelle [inference]

plasma membrane region [inference]

basolateral plasma membrane

cell projection membrane [inference]

ciliary membrane

lateral plasma membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

motile cilium

organelle [inference]

membrane-bounded organelle [inference]

motile cilium

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

organelle membrane contact site [inference]

mitochondria-associated endoplasmic reticulum membrane contact site

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GO Term	Evidence Code	PMID
monoatomic cation channel activity	IBA
monoatomic cation channel activity	IEA
calcium channel activity	ISS
calcium channel activity	IDA
calcium channel activity	IEA

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity

calcium channel activity

monoatomic cation transmembrane transporter activity [inference]

monoatomic cation channel activity

calcium channel activity

metal ion transmembrane transporter activity [inference]

calcium ion transmembrane transporter activity [inference]

calcium channel activity

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic cation channel activity

calcium channel activity

binding [inference]

protein binding

enzyme binding [inference]

kinase binding [inference]

protein kinase binding

carbohydrate binding

molecular transducer activity [inference]

signaling receptor activity [inference]

transmembrane signaling receptor activity [inference]

Wnt receptor activity

molecular function regulator activity [inference]

molecular function inhibitor activity [inference]

transcription regulator inhibitor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Polycystin-1

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism

Displaying **all 2** entries
Gene Ontology
calcium ion transport
kidney development

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InterPro
C-type lectin fold
C-type lectin-like/link domain superfamily
C-type lectin-like
Carbohydrate-binding WSC
Cysteine-rich flanking region, C-terminal
GPS motif
Immunoglobulin-like fold
Leucine-rich repeat domain superfamily
PKD domain superfamily
PKD domain

Human Protein Atlas

ENSG00000008710

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K04985

Name

polycystin 1

References

12482949

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0110858	polycystic kidney disease 1	Alliance of Genome Resources
DOID:10941	intracranial aneurysm	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000083	Renal insufficiency
HP:0000105	Enlarged kidney
HP:0000107	Renal cyst
HP:0000113	Polycystic kidney dysplasia
HP:0000790	Hematuria
HP:0000791	Uric acid nephrolithiasis
HP:0000822	Hypertension
HP:0001407	Hepatic cysts

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:730	autosomal dominant polycystic kidney disease
OMIM:173900	polycystic kidney disease 1

PubChem Disease

GHR Health Conditions

Polycystic kidney disease

MedGen Diseases

Polycystic kidney disease, adult type

OMIM Phenotypes

POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1

KEGG Diseases

Polycystic kidney disease

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

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Last updated: April 6, 2026