GLMN
Description
The GLMN (glomulin, FKBP associated protein) is a protein-coding gene located on chromosome 1.
Glomulin is a protein encoded by the GLMN gene in humans. It is a phosphorylated protein that is part of a Skp1-Cullin-F-box-like complex. Glomulin is essential for normal vascular development. Mutations in the GLMN gene have been linked to glomuvenous malformations, also known as glomangiomas. Multiple alternatively spliced variants encoding different protein isoforms have been identified, but the full-length nature of only one isoform has been determined.
[Isoform 1]: Glomulin acts as a regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes. It inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and blocking its interaction with the E2 ubiquitin-conjugating enzyme CDC34. Glomulin also inhibits RBX1-mediated neddylation of CUL1. It plays a crucial role in maintaining normal stability and cellular levels of essential components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, and CUL4A. This function contributes to the regulation of CCNE1 and MYC levels. Glomulin is essential for normal development of the vasculature. It also contributes to the regulation of RPS6KB1 phosphorylation.
GLMN is also known as FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM.
