GLMN
Glomulin
Also known as: FAP48, FAP68, FKBPAP, GLML, GLMN_HUMAN, GVM, VMGLOM
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92990
- Gene
- GLMN
- Ensembl
- ENSG00000174842
- Chromosome
- 1
- Canonical length
- 594 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
594 residues, UniProt reviewed canonical sequence.
>Q92990|GLMN
1 MAVEELQSII KRCQILEEQD FKEEDFGLFQ LAGQRCIEEG HTDQLLEIIQ NEKNKVIIKN
61 MGWNLVGPVV RCLLCKDKED SKRKVYFLIF DLLVKLCNPK ELLLGLLELI EEPSGKQISQ
121 SILLLLQPLQ TVIQKLHNKA YSIGLALSTL WNQLSLLPVP YSKEQIQMDD YGLCQCCKAL
181 IEFTKPFVEE VIDNKENSLE NEKLKDELLK FCFKSLKCPL LTAQFFEQSE EGGNDPFRYF
241 ASEIIGFLSA IGHPFPKMIF NHGRKKRTWN YLEFEEEENK QLADSMASLA YLVFVQGIHI
301 DQLPMVLSPL YLLQFNMGHI EVFLQRTEES VISKGLELLE NSLLRIEDNS LLYQYLEIKS
361 FLTVPQGLVK VMTLCPIETL RKKSLAMLQL YINKLDSQGK YTLFRCLLNT SNHSGVEAFI
421 IQNIKNQIDM SLKRTRNNKW FTGPQLISLL DLVLFLPEGA ETDLLQNSDR IMASLNLLRY
481 LVIKDNENDN QTGLWTELGN IENNFLKPLH IGLNMSKAHY EAEIKNSQEA QKSKDLCSIT
541 VSGEEIPNMP PEMQLKVLHS ALFTFDLIES VLARVEELIE IKTKSTSEEN IGIKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GLMN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- retina: 36 nTPM
- cerebellum: 9.9 nTPM
- skin: 8.8 nTPM
- tonsil: 8.2 nTPM
- thymus: 8 nTPM
- cerebral cortex: 7.8 nTPM
Single-cell type
- rod photoreceptor cells: 487 nCPM
- cone photoreceptor cells: 387 nCPM
- retinal ganglion cells: 174 nCPM
- retinal amacrine cells: 157 nCPM
- retinal bipolar cells: 141 nCPM
- t-cells: 97 nCPM
Immune cell
- NK-cell: 7.4 nTPM
- MAIT T-cell: 5.5 nTPM
- memory CD8 T-cell: 3.6 nTPM
- naive CD8 T-cell: 3.2 nTPM
- gdT-cell: 3 nTPM
- memory CD4 T-cell: 3 nTPM
Brain region
- cerebellum: 16 nTPM
- cerebral cortex: 13 nTPM
- choroid plexus: 11 nTPM
- basal ganglia: 11 nTPM
- white matter: 10 nTPM
- hypothalamus: 8.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GLMN.
Disease | AllUniProt
Conditions GLMN is implicated in, by any mechanism.
- Glomuvenous malformations (GVMs) MIM:138000
Disease | GeneticClinVar
52 pathogenic / likely-pathogenic of 192 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Glomuvenous malformation
- GLMN-related disorder
- Inborn genetic diseases
- Vascular skin disorders
- Venous malformation
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.91
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.95
- DepMap mean gene effect
- -0.26
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell surface receptor signaling pathway
- epigenetic regulation of gene expression
- muscle cell differentiation
- negative regulation of cell population proliferation
- negative regulation of T cell proliferation
- neural tube closure
- positive regulation of cytokine production
- positive regulation of interleukin-2 production
- positive regulation of phosphorylation
- regulation of proteasomal ubiquitin-dependent protein catabolic process
- vasculogenesis
Molecular functions
- hepatocyte growth factor receptor binding
- signaling receptor binding
- ubiquitin protein ligase binding
- ubiquitin-protein transferase inhibitor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- YAP-binding/ALF4/Glomulin
- Glomulin/ALF4
- Uncharacterised protein family, YAP/Alf4/glomulin
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GLMN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GLMN as an antibody target. Whether an autoantibody or antibody against GLMN could matter depends on whether native GLMN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GLMN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GLMN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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