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 31 - 40 of 193 in total
DO ID Disease Name Source
DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1
DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome
DOID:0110031 hemoglobin H disease
DOID:0110307 hypertrophic cardiomyopathy 1
DOID:0110720 neuronal ceroid lipofuscinosis 4
DOID:0110721 neuronal ceroid lipofuscinosis 1
DOID:0110722 neuronal ceroid lipofuscinosis 7
DOID:0110723 neuronal ceroid lipofuscinosis 8
DOID:11612 polycystic ovary syndrome
DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant
The Human Phenotype Ontology
Displaying entries 11 - 20 of 30 in total
HPO ID HPO Term
HP:0001634 Mitral valve prolapse
HP:0001653 Mitral regurgitation
HP:0001737 Pancreatic cysts
HP:0002253 Colonic diverticula
HP:0002616 Aortic root aneurysm
HP:0003259 Elevated circulating creatinine concentration
HP:0003774 Stage 5 chronic kidney disease
HP:0004944 Dilatation of the cerebral artery
HP:0006557 Polycystic liver disease
HP:0007029 Cerebral berry aneurysm
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

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024