PTRF

Gene Information

Official Symbol: CAVIN1
Official Name: caveolae associated protein 1
Aliases and Previous Symbols: N/A
Entrez ID: 284119
UniProt: Q6NZI2
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 15819
Expression level (log2 read counts): 0.77

Expression Distribution

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