background:
In contrast to the rapid early-onset weight gain seen in ob/ob mice (1-3), mutations in the tub gene lead to obesity gradually and strongly resemble late-onset obesity as seen in the human population (4). In addition to excessive deposition of adipose tissue, mice with the tub phenotype also suffer retinal degeneration and neurosensory hearing loss (4-6). The tripartite character of tubby phenotype is strikingly similar to human obesity syndromes such as Alstr鰉 (5) and Bardet-Biedl (6). A candidate for the tub gene has been described (4). A G芓 transversion in this candidate gene eliminates a donor splice site in the 3' coding region resulting in a larger transcript containing an unspliced intron (4). A second prematurely truncated mRNA transcript with the unspliced intron was found to be expressed in the brains of tubby mice at a 2-3 fold higher rate as compared to B6 mice (4). It has been postulated that the phenotypic features of tubby mice can be attributed to cellular apoptosis triggered by the expression of a mutated tub gene (4).
Function:
Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.
Subunit:
Interacts with GNAQ (By similarity). Interacts with TULP1
Subcellular Location:
Cytoplasm. Nucleus. Secreted. Cell membrane. Binds phospholipid and is anchored to the plasma membrane through binding phosphatidylinositol 4,5-bisphosphate. Is released upon activation of phospholipase C. Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G(q) subunit alpha. Does not have a cleavable signal peptide and is secreted by a non-conventional pathway.
Similarity:
Belongs to the TUB family.
Database links:
UniProtKB/Swiss-Prot: P50607.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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