CAVIN1
Domain
The leucine-zipper domain 1 is essential for its localization in the caveolae.
Function
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) (PubMed:18056712, PubMed:18191225, PubMed:19726876). The caveolae biogenesis pathway is required for the secretion of proteins such as GASK1A (By similarity).
Involvement in disease
Lipodystrophy, congenital generalized, 4
CGL4
A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL4 is characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity. Phosphorylation at Tyr-156 is essential for its functionin the regulation of ribosomal transcriptional activity.
Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.
Monoubiquitinated.
Sequence Similarities
Belongs to the CAVIN family.
Cellular localization
- Membrane
- Caveola
- Cell membrane
- Microsome
- Endoplasmic reticulum
- Cytoplasm
- Cytosol
- Mitochondrion
- Nucleus
- Translocates to the cytoplasm from the caveolae upon insulin stimulation (PubMed:17026959). Colocalizes with CAV1 in lipid rafts in adipocytes. Localizes in the caveolae in a caveolin-dependent manner (By similarity).
Alternative names
PTRF, FKSG13, CAVIN1, Caveolae-associated protein 1, Cavin-1, Polymerase I and transcript release factor