GLMN

Chr 1p22.1

glomulin, FKBP associated protein

Aliases:: FAP48, FAP68, GLML, GVM, FKBPAP
MANE:: ENST00000370360.8

OMIM: 601749 ↗NCBI: 11146 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GLMN · Q92990

v62025-08-01

Predicted Aligned Error matrix for GLMN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.5/ 100

Confident

594 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)15%
Low(50–70)8%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

glomuvenous malformation
0.78
hereditary disease
0.51
skin vascular disease
0.47
blue rubber bleb nevus
0.37
Venous malformation
0.34
neurodegenerative disease
0.32
asthma
0.30
placenta praevia
0.26
chronic rhinosinusitis
0.23
lysosomal storage disease
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glomulin

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)