|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Cavin-1
Polymerase I and transcript release factor
|
|
gptkbp:associatedWith
|
gptkb:lipodystrophy
gptkb:muscular_dystrophy
|
|
gptkbp:discoveredBy
|
1999
|
|
gptkbp:encodedBy
|
PTRF gene
|
|
gptkbp:Entrez_Gene_ID
|
11115
|
|
gptkbp:expressedIn
|
gptkb:adipose_tissue
gptkb:cancer
gptkb:skeletal_muscle
heart
liver
|
|
gptkbp:function
|
involved in caveolae formation
regulates RNA polymerase I transcription termination
|
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PTRF (Cavin-1)
|