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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)
NCBI Gene
5310
HGNC
9008
KEGG Gene ID
hsa:5310
PubChem
5310
Alliance of Genome Resources
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
  • 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 49 in total
GO Term Evidence Code PMID
cartilage condensation
in utero embryonic development
kidney development
liver development
embryonic placenta development
GO Hierarchy
Displaying entries 1 - 5 of 25 in total
GO Term Evidence Code PMID
Golgi membrane
polycystin complex
polycystin complex
nucleus
cytoplasm
GO Hierarchy
Displaying entries 1 - 5 of 10 in total
GO Term Evidence Code PMID
monoatomic cation channel activity
calcium channel activity
calcium channel activity
protein binding
protein kinase binding
GO Hierarchy
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
Displaying entries 1 - 10 of 11 in total
InterPro
C-type lectin-like
GPS motif
Immunoglobulin-like fold
PKD domain superfamily
PKD domain
PKD/Chitinase domain
PKD/REJ-like domain
PLAT/LH2 domain superfamily
PLAT/LH2 domain
Polycystin cation channel, PKD1/PKD2
Human Protein Atlas
ENSG00000008710

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0110858 polycystic kidney disease 1
DOID:10941 intracranial aneurysm
DOID:898 autosomal dominant polycystic kidney disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 30 in total
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
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 1 - 10 of 58 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
5310 Xenbase:XB-GENE-483409
18763 Xenbase:XB-GENE-483409 MOUSE20261
24650 RATNO01191
606755 CANLF16686
694905 MACMU27550
100012596 MONDO28798
100089024 ORNAN14089
100144606 FELCA35710
100149562 DANRE18519
100225143 TAEGU05306
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Last updated: April 7, 2025