Homo sapiens Protein: GLMN
Summary
InnateDB Protein IDBP-594233.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLMN
Protein Name glomulin, FKBP associated protein
Synonyms FAP; FAP48; FAP68; FKBPAP; GLML; GVM; VMGLOM;
Species Homo sapiens
Ensembl Protein ENSP00000436829
InnateDB Gene IDBG-100272 (GLMN)
Protein Structure
UniProt Annotation
Function Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production. {ECO:0000269PubMed:11571281, ECO:0000269PubMed:12604780}.
Subcellular Localization
Disease Associations Glomuvenous malformations (GVMs) [MIM:138000]: Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. {ECO:0000269PubMed:11845407}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
Experimentally validated
Total 28 [view]
Protein-Protein 27 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005171 hepatocyte growth factor receptor binding
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0055105 ubiquitin-protein transferase inhibitor activity
Biological Process
GO:0001570 vasculogenesis
GO:0031397 negative regulation of protein ubiquitination
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0040029 regulation of gene expression, epigenetic
GO:0042130 negative regulation of T cell proliferation
GO:0042327 positive regulation of phosphorylation
GO:0042692 muscle cell differentiation
GO:0045086 positive regulation of interleukin-2 biosynthetic process
GO:0050715 positive regulation of cytokine secretion
Cellular Component
GO:0005622 intracellular
GO:0031461 cullin-RING ubiquitin ligase complex
GO:0031462 Cul2-RING ubiquitin ligase complex
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0031464 Cul4A-RING E3 ubiquitin ligase complex
Protein Structure and Domains
PDB ID
InterPro IPR013877 YAP-binding/ALF4/Glomulin
PFAM PF08568
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q92990
PhosphoSite PhosphoSite-Q92990
TrEMBL
UniProt Splice Variant
Entrez Gene 11146
UniGene Hs.49105
RefSeq
HUGO HGNC:14373
OMIM 601749
CCDS
HPRD 03451
IMGT
EMBL AJ302727 AJ302728 AJ302729 AJ302730 AJ302731 AJ302732 AJ302733 AJ302734 AJ302735 AJ347709 AL451010 BC001257 CH471097 U73704
GenPept AAC50908 AAH01257 CAC69882 CAC82938 CAC88124 CAH70761 EAW73098