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Ask your administrator if you think this is wrong. ======= PTRF ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: CAVIN1 * **<color #00a2e8>Official Name</color>**: caveolae associated protein 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=284119|284119]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6NZI2|Q6NZI2]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PTRF&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PTRF|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603198|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity). {ECO:0000250|UniProtKB:O54724, ECO:0000269|PubMed:18056712, ECO:0000269|PubMed:18191225, ECO:0000269|PubMed:19726876}. <button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |rRNA primary transcript binding| |rRNA transcription| |termination of RNA polymerase I transcription| |transcription initiation from RNA polymerase I promoter| |transcription by RNA polymerase I| |DNA-templated transcription, termination| |caveola| |ncRNA transcription| |protein secretion| |establishment of protein localization to extracellular region| |protein localization to extracellular region| |peptide secretion| |DNA-templated transcription, initiation| |membrane raft| |positive regulation of cell motility| |positive regulation of cellular component movement| |positive regulation of locomotion| |protein-containing complex| |transcription, DNA-templated| |nucleic acid-templated transcription| |RNA biosynthetic process| |intracellular membrane-bounded organelle| |regulation of cell motility| |regulation of locomotion| |regulation of cellular component movement| |secretion by cell| |endoplasmic reticulum| |export from cell| |identical protein binding| |nucleobase-containing compound biosynthetic process| |secretion| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |mitochondrion| |organic cyclic compound biosynthetic process| |RNA binding| |protein transport| |peptide transport| |amide transport| |establishment of protein localization| |cellular nitrogen compound biosynthetic process| |RNA metabolic process| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| |nitrogen compound transport| |gene expression| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/25| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/15| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/14| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 15819 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.77 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PTRF Expression in NALM6 Cells: 0.77'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1