Alternative titles; symbols
HGNC Approved Gene Symbol: VEPH1
Cytogenetic location: 3q25.31-q25.32 Genomic coordinates (GRCh38): 3:157,259,742-157,503,605 (from NCBI)
By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned VEPH1, which they designated KIAA1692. The 3-prime UTR of the transcript contains a short interspersed nucleotide element, and the deduced protein contains 855 amino acids. RT-PCR ELISA detected highest expression in kidney, pancreas, spleen, and fetal brain, with lower expression in lung, ovary, fetal liver, and most individual adult brain regions examined. Very low expression was detected in whole adult brain and spinal cord, and little to no expression was detected in adult heart, liver, skeletal muscle, and testis.
Teleman et al. (2005) identified homologs of the Drosophila Melted gene in nematode, mouse, and human databases. The human and fly proteins share 76% similarity in a conserved region at the N terminus, and both have a conserved pleckstrin homology domain at the C terminus.
Teleman et al. (2005) identified the Drosophila Melted protein as a modulator of the insulin (INS; 176730)/PI3K (see PIK3CG; 601232) signaling pathway. Melted interacted with Tsc1 (605284) and Foxo (see 136533) and recruited these proteins to the cell membrane.
The International Radiation Hybrid Mapping Consortium mapped the VEPH1 gene to chromosome 3 (SHGC-77484).
Teleman et al. (2005) found that deletion of Melted in Drosophila caused reduced Tor (see FRAP1; 601231) activity and increased Foxo activation. The Melted mutant condition mimicked nutrient deprivation, producing flies with 40% less fat than normal. The human homolog of Melted rescued the size reduction in Melted mutant flies, indicating that the molecular function of Melted is conserved.
Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 347-355, 2000. [PubMed: 11214970] [Full Text: https://doi.org/10.1093/dnares/7.6.347]
Teleman, A. A., Chen, Y.-W., Cohen, S. M. Drosophila Melted modulates FOXO and TOR activity. Dev. Cell 9: 271-281, 2005. [PubMed: 16054033] [Full Text: https://doi.org/10.1016/j.devcel.2005.07.004]