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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)
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
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| response to oxidative stress | ||
| negative regulation of apoptotic process | ||
| response to cadmium ion | ||
| cellular response to amyloid-beta | ||
| intracellular copper ion homeostasis |
|
GO Hierarchy
- negative regulation of long-term synaptic potentiation
- regulation of cell cycle
biological process
cellular process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of immune system process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
negative regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
negative regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of phosphorus metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of macromolecule biosynthetic process [inference]
negative regulation of macromolecule metabolic process [inference]
regulation of protein metabolic process [inference]
regulation of primary metabolic process [inference]
regulation of signaling [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
negative regulation of metabolic process [inference]
negative regulation of cellular process [inference]
negative regulation of multicellular organismal process [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
negative regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of phosphorus metabolic process [inference]
regulation of cell population proliferation [inference]
positive regulation of cellular process [inference]
negative regulation of cellular process [inference]
regulation of cell activation [inference]
regulation of cellular localization [inference]
regulation of multicellular organismal process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| extrinsic component of membrane |
|
|
| inclusion body | ||
| intracellular membrane-bounded organelle | ||
| endoplasmic reticulum | ||
| cytosol |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| aspartic-type endopeptidase inhibitor activity | ||
| molecular adaptor activity | ||
| type 5 metabotropic glutamate receptor binding | ||
| cuprous ion binding | ||
| ATP-dependent protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| 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
| 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 |
| Disease ID | Disease Name |
|---|---|
| OMIM:603218 |
|
| OMIM:123400 |
|
| ORPHA:356 |
|
| OMIM:137440 |
|
| ORPHA:280397 |
|
| ORPHA:157941 |
|
| OMIM:600072 |
|
| ORPHA:282166 |
|
| OMIM:606688 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 494129 | ZFIN:ZDB-GENE-041217-6 | ||
| 398272 | Xenbase:XB-GENE-17341341 | ||
| 444620 | Xenbase:XB-GENE-952817 | ||
| 100158502 | Xenbase:XB-GENE-952814 | ||
| 109317341 | CROPO24874 | ||
| 113447188 | PSETE20551 | ||
| 100086593 | ORNAN22428 | ||
| 100927381 | SARHA07078 | ||
| 103128660 | ERIEU09348 | ||
| 102127229 | MACFA01235 |
