prion protein (Kanno blood group)

Summary
Gene Symbol
  • PRNP
Aliases
  • AltPrP
  • CD230
  • Creutzfeldt-Jakob disease
  • Gerstmann-Strausler-Scheinker syndrome
  • PRP
  • fatal familial insomnia
  • p27-30
Organism
Homo sapiens (human)
External Links
NCBI Gene
5621
HGNC
9449
KEGG Gene ID
hsa:5621
PubChem
5621
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative initiation
  • Amyloidosis
  • Cell membrane
  • Copper
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • GPI-anchor
  • Golgi apparatus
  • Growth arrest
  • Metal-binding
  • Mitochondrion outer membrane
  • Prion
  • Reference proteome
  • Repeat
  • Signal
  • Transmembrane helix
  • Zinc
Proteins
Displaying all 3 entries
UniProt Protein Name
P04156
  • ASCR
  • PrP27-30
  • PrP33-35C
Q53YK7
F7VJQ1
  • AltPrP
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000171867

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
K05634
Name
prion protein
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 406 in total
DO ID Disease Name Source
DOID:0050433 fatal familial insomnia
DOID:0050452 mevalonic aciduria
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050569 Seckel syndrome
DOID:0050572 cone-rod dystrophy
DOID:0050589 inflammatory bowel disease
DOID:0050635 alternating hemiplegia of childhood
DOID:0050639 primary cutaneous amyloidosis
DOID:0050753 cerebellar ataxia
DOID:0050759 myotonic dystrophy type 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 131 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000016 Urinary retention
HP:0000298 Mask-like facies
HP:0000496 Abnormality of eye movement
HP:0000504 Abnormality of vision
HP:0000505 Visual impairment
HP:0000514 Slow saccadic eye movements
HP:0000570 Abnormal saccadic eye movements
HP:0000605 Supranuclear gaze palsy
HP:0000617 Abnormality of ocular smooth pursuit
Displaying all 9 entries
Disease ID Disease Name
OMIM:603218
  • Huntington disease-like 1
OMIM:123400
  • inherited Creutzfeldt-Jakob disease
ORPHA:356
  • Gerstmann-Straussler-Scheinker syndrome
OMIM:137440
  • Gerstmann-Straussler-Scheinker syndrome
ORPHA:280397
  • familial Alzheimer-like prion disease
ORPHA:157941
  • Huntington disease-like 1
OMIM:600072
  • fatal familial insomnia
ORPHA:282166
  • inherited Creutzfeldt-Jakob disease
OMIM:606688
  • spongiform encephalopathy with neuropsychiatric features

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