GLMN

This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Full Name

Glomulin, FKBP Associated Protein

Function

Isoform 1:
Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924).

Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924).

Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651).

Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity).

Essential for normal development of the vasculature (PubMed:11845407).

Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281).

Biological Process

Cell surface receptor signaling pathway Source: MGI
Muscle cell differentiation Source: UniProtKB
Negative regulation of cell population proliferation Source: MGI
Negative regulation of T cell proliferation Source: UniProtKB
Neural tube closure Source: Ensembl
Positive regulation of cytokine production Source: UniProtKB
Positive regulation of interleukin-2 production Source: MGI
Positive regulation of phosphorylation Source: UniProtKB
Regulation of gene expression, epigenetic Source: UniProtKB
Regulation of proteasomal ubiquitin-dependent protein catabolic process Source: MGI
Vasculogenesis Source: UniProtKB

Cellular Location

Cul2-RING ubiquitin ligase complex; Cul3-RING ubiquitin ligase complex; Cul4A-RING E3 ubiquitin ligase complex; Cullin-RING ubiquitin ligase complex; Cytoplasm

Involvement in disease

Glomuvenous malformations (GVMs):
Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens.

PTM

Phosphorylated on tyrosine residues.