Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:Cavin-1
Polymerase I and transcript release factor |
| gptkbp:associatedWith |
muscular dystrophy
lipodystrophy |
| gptkbp:discoveredBy |
1999
|
| gptkbp:encodedBy |
PTRF gene
|
| gptkbp:Entrez_Gene_ID |
11115
|
| gptkbp:expressedIn |
gptkb:cancer
gptkb:skeletal_muscle heart liver adipose tissue |
| gptkbp:function |
involved in caveolae formation
regulates RNA polymerase I transcription termination |
| https://www.w3.org/2000/01/rdf-schema#label |
PTRF (Cavin-1)
|
| gptkbp:interactsWith |
gptkb:Caveolin-1
gptkb:Cavin-3 gptkb:Cavin-2 Cavin-4 |
| gptkbp:locale |
gptkb:cytoplasm
gptkb:plasma_membrane |
| gptkbp:locatedOnChromosome |
17q21.2
|
| gptkbp:molecularWeight |
43 kDa
|
| gptkbp:mutationAssociatedWith |
causes congenital muscular dystrophy
causes generalized lipodystrophy |
| gptkbp:OMIM |
604405
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:postTranslationalModification |
phosphorylation
sumoylation |
| gptkbp:UniProtID |
Q6NZI2
|
| gptkbp:bfsParent |
gptkb:SDPR_gene
|
| gptkbp:bfsLayer |
7
|