GLMN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GLMN |
| Official Name | glomulin, FKBP associated protein [Source:HGNC Symbol;Acc:HGNC:14373] |
| Ensembl ID | ENSG00000174842 |
| Bio databases IDs | |
| Aliases | glomulin, FKBP associated protein |
| Synonyms | 9330160J16Rik, FAP, FAP48, FAP68, FKBPAP, GLML, glomulin, FKBP associated protein, GVM, LOC102549395, VMGLOM |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GLMN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- hepatocyte growth factor receptor binding
- enzyme inhibitor activity
- protein binding
- enzyme regulator activity
- receptor binding
- Uncharacterized protein family, YAP/Alf4/glomulin
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLMN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of phosphorylation
- neural tube closure
- negative regulation of T cell proliferation
- negative regulation of cell proliferation
- muscle cell differentiation
- cell surface receptor signaling pathway
- vasculogenesis
- positive regulation of cytokine production
- regulation of proteasomal ubiquitin-dependent protein catabolic process
- regulation of gene expression, epigenetic
- positive regulation of interleukin-2 production
Cellular Component
Where in the cell the gene product is active
- cullin-RING ubiquitin ligase complex
- cytoplasm
- Cul4A-RING ubiquitin ligase complex
- Cul2-RING ubiquitin ligase complex
- Cul3-RING ubiquitin ligase complex
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- hepatocyte growth factor receptor binding
- ubiquitin-protein ligase inhibitor activity
- receptor binding