Target intelligence / Profile preview

Glomulin, FKBP-associated protein (GLMN)

Target
GLMN
Molecular classification
Other (specifically, a regulatory protein component of a SCF (Skp1-Cullin-F-box) ubiquitin ligase complex)
01

Overview

Glomulin, FKBP-associated protein (GLMN) is a phosphorylated regulatory protein that is a member of a Skp1-Cullin-F-box-like complex involved in the regulation of ubiquitin-protein ligase activity and protein stability. It is essential for the normal development of vasculature, and mutations in the GLMN gene cause glomuvenous malformations (glomangiomas), a type of vascular tumor. GLMN serves specifically to repress the activity of cullin-RING E3 ubiquitin ligase complexes by binding and sequestering the RING domain protein RBX1, thereby influencing the turnover of key regulatory proteins. Multiple splice variants exist, but the full-length nature of only one has been characterized. GLMN interacts with proteins such as FKBP4 and FKBP1A and participates in pathways including innate immune system function and antigen processing, but it is not currently a direct therapeutic drug target.

Other names
FAP48FAP68FKBPAPGLMLGVMVMGLOMGlomulinFAPFK506-binding protein-associated proteinFKBP-associated protein
02

Biological functions

Regulation of ubiquitin-protein ligase activityInhibition of E3 ubiquitin ligase activityEssential for normal vasculature developmentRegulation of protein stability (including CCNE1 and MYC)
03

Disease associations

Vascular malformations (notably glomuvenous malformations, also called glomangiomas)Other (implicated in familial glomangioma)

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