| URN | urn:agi-llid:22939 |
|---|---|
| Total Entities | 0 |
| Connectivity | 68 |
| Name | Ptrf |
| Description | polymerase I and transcript release factor |
| Notes | This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009] |
| Ariadne Ontology | Polymerase I transcription |
|---|---|
| Secreted proteins |
| GO Molecular Function | RNA binding |
|---|---|
| rRNA binding | |
| rRNA primary transcript binding |
| GO Cellular Component | membrane |
|---|---|
| nucleoplasm | |
| caveola | |
| plasma membrane | |
| cytoplasm | |
| mitochondrion | |
| cytosol | |
| endoplasmic reticulum | |
| intracellular membrane-bounded organelle | |
| nucleus |
| GO Biological Process | regulation of transcription, DNA-dependent |
|---|---|
| DNA-dependent transcription, termination | |
| transcription, DNA-dependent | |
| transcription from RNA polymerase I promoter | |
| transcription initiation from RNA polymerase I promoter | |
| termination of RNA polymerase I transcription | |
| gene expression |
| Pathway | Transcytosis |
|---|---|
| RNA polymerase I transcription pathway |
| Group | Polymerase I transcription |
|---|---|
| regulation of transcription, DNA-dependent | |
| DNA-dependent transcription, termination | |
| transcription, DNA-dependent | |
| transcription from RNA polymerase I promoter | |
| transcription initiation from RNA polymerase I promoter | |
| termination of RNA polymerase I transcription | |
| gene expression | |
| RNA binding | |
| rRNA binding | |
| rRNA primary transcript binding | |
| membrane | |
| nucleoplasm | |
| caveola | |
| plasma membrane | |
| cytoplasm | |
| mitochondrion | |
| cytosol | |
| endoplasmic reticulum | |
| intracellular membrane-bounded organelle | |
| nucleus | |
| Secreted proteins |
| MedScan ID | 22939 |
|---|
| Hugo ID | 9688 |
|---|
| Human chromosome position | 17q21.2 |
|---|
| LocusLink ID | 22939 |
|---|---|
| 284119 | |
| 19285 | |
| 287710 |
| Alias | CGL4 |
|---|---|
| CAVIN | |
| CAVIN1 | |
| FKSG13 | |
| cavin-1 | |
| polymerase I and transcript release factor | |
| TTF-I interacting peptide 12 | |
| RNA polymerase I and transcript release factor | |
| Cav-p60 | |
| AW546441 | |
| 2310075E07Rik | |
| RP23-279L23.6 | |
| TTF-I interactive peptide 12 | |
| Polymerase I and transcript release factor/Cavin | |
| polymerase I and transcript release factor/cavin-1 | |
| PTRF | |
| PTRF/cavin-1 | |
| PTRF-CAVIN | |
| TTF-I interactive peptide XII | |
| 2310075E07 | |
| MGC118550 | |
| OTTMUSP00000002049 | |
| FLJ90031 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 603198 |
|---|---|
| 613327 |
| Unigene ID | Hs.437191 |
|---|---|
| Mm.21864 | |
| Rn.219686 |
| KEGG ID | hsa:284119 |
|---|---|
| mmu:19285 | |
| rno:287710 |
| Swiss-Prot Accession | Q6NZI2 |
|---|---|
| O54724 | |
| G3V8L9 | |
| P85125 | |
| B2RAW7 | |
| O00535 | |
| Q6GMY1 | |
| Q96H74 | |
| Q9BT85 | |
| Q9HAP4 | |
| Q2TAW6 |
| GO ID | 0042134 |
|---|---|
| 0010467 | |
| 0006355 | |
| 0006363 | |
| 0006360 | |
| 0006361 | |
| 0005901 | |
| 0005737 | |
| 0005829 | |
| 0005783 | |
| 0005739 | |
| 0005654 | |
| 0005634 | |
| 0003723 | |
| 0019843 | |
| 0006353 | |
| 0006351 | |
| 0043231 | |
| 0016020 | |
| 0005886 |
| Swiss-Prot ID | PTRF_HUMAN |
|---|---|
| PTRF_MOUSE |
| Cell Localization | Membrane |
|---|---|
| caveola | |
| Cell membrane | |
| Microsome | |
| Endoplasmic reticulum | |
| Cytoplasm | |
| cytosol | |
| Mitochondrion | |
| Nucleus |
| IPI ID | IPI00176903 |
|---|---|
| IPI00513773 | |
| IPI01014936 | |
| IPI00117689 |
| Mouse chromosome position | 11 60.5 cM |
|---|
| Rat chromosome position | 10q32.1 |
|---|
| Homologene ID | 7499 |
|---|
| MGI ID | 1277968 |
|---|
| RGD ID | 1307685 |
|---|
| Primary Cell Localization | Nucleus |
|---|