Glomulin, FKBP Associated Protein; FAP48; FAP68; FKBPAP; VMGLOM; GLML; GVM; FK506-Binding Protein-Associated Protein; FKBP-Associated Protein; Glomulin; FAP; Venous Malformation With Glomus Cells;
GLMN gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The GLMN gene (GLMN stands for: Glomulin, FKBP Associated Protein) is a protein-coding gene located on chromosome 1p22.1. Several splice variants encoding different isoforms have been found for this gene.
The GLMN gene encodes a phosphorylated protein (glomulin) that belongs to a Skp1-cullin F-box-like complex. The protein is essential for the normal development of the vascular system. Mutations in the GLMN gene have been associated with glomuvenous malformations, also known as glomangiomas. Related signaling pathways include class I MHC-mediated antigen processing and presentation and the innate immune system.
(Isoform 1): Regulatory component of cullin-RING-based SCF (SKP1-cullin F-box protein) E3 ubiquitin-protein ligase complexes (Tron AE et al. 2012). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via the RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (Duda DM et al. 2012).
Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1 -4A, thereby contributing to the regulation of CCNE1 and MYC levels. Gene and encoded protein are essential for the normal development of the vascular system (Brouillard P et al. 2002).
Clinical pictureThis section has been translated automatically.
Diseases associated with GLMN include glomuvenous malformations and familial glomangiomas(hereditary glomangiomas/hereditary glomangiomatosis).
LiteratureThis section has been translated automatically.
- Brouillard P et al. (2002) Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet 70:866-874.
- Duda DM et al. (2012) Structure of a glomulin-RBX1-CUL1 complex: inhibition of a RING E3 ligase through masking of its E2-binding surface. Mol Cell 47:371-382.
- Tron AE et al. (2012) The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7. Mol Cell46:67-78.