GLMN gene

glomulin, FKBP associated protein

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Glomuvenous malformations

From UniProt:

Glomuvenous malformations (GVMs): Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. [MIM:138000]

Cytogenetic Location: 1p22.1, which is the short (p) arm of chromosome 1 at position 22.1

Molecular Location: base pairs 92,245,786 to 92,441,936 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1p22.1, which is the short (p) arm of chromosome 1 at position 22.1
  • FAP
  • FAP48
  • FAP68
  • FKBPAP
  • GLML
  • GVM
  • VMGLOM