Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
muscular dystrophy
lipodystrophy |
| gptkbp:encodes |
gptkb:Cavin-1_protein
|
| gptkbp:Entrez_Gene_ID |
11115
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
adipose tissue |
| gptkbp:fullName |
gptkb:polymerase_I_and_transcript_release_factor
|
| gptkbp:function |
regulation of RNA polymerase I transcription termination
structural component of caveolae |
| gptkbp:HGNC_ID |
HGNC:17854
|
| https://www.w3.org/2000/01/rdf-schema#label |
PTRF
|
| gptkbp:interactsWith |
gptkb:CAVIN2
gptkb:CAVIN3 gptkb:EHD2 gptkb:CAV1 |
| gptkbp:involvedIn |
caveolae formation
|
| gptkbp:locatedOnChromosome |
17q21.2
|
| gptkbp:mutationAssociatedWith |
gptkb:congenital_generalized_lipodystrophy_type_4
|
| gptkbp:OMIM |
604907
|
| gptkbp:orthologInMouse |
gptkb:Ptrf
|
| gptkbp:UniProtID |
Q6NZI2
|
| gptkbp:bfsParent |
gptkb:SDPR
|
| gptkbp:bfsLayer |
6
|