Aliases for GLMN Gene
External Ids for GLMN Gene
Previous HGNC Symbols for GLMN Gene
Previous GeneCards Identifiers for GLMN Gene
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]
GeneCards Summary for GLMN Gene
GLMN (Glomulin, FKBP Associated Protein) is a Protein Coding gene. Diseases associated with GLMN include Glomuvenous Malformations and Blue Rubber Bleb Nevus. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and ubiquitin-protein transferase inhibitor activity.
UniProtKB/Swiss-Prot Summary for GLMN Gene
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).