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
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
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
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.

KEGG BRITE Database
Orthology
K04985
Name
polycystin 1
References
Disease
Disease Ontology
Displaying entries 81 - 90 of 193 in total
DO ID Disease Name Source
DOID:13515 tuberous sclerosis
DOID:13739 nutmeg liver
DOID:139 squamous cell papilloma
DOID:13910 red color blindness
DOID:14004 thoracic aortic aneurysm
DOID:14221 abdominal obesity-metabolic syndrome 1
DOID:14227 azoospermia
DOID:1425 pyoureter
DOID:14323 Marfan syndrome
DOID:14330 Parkinson's 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
OMIM:173900
  • polycystic kidney disease 1
ORPHA:730
  • autosomal dominant polycystic kidney disease

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024