Homo sapiens Protein: GLMN
Summary
InnateDB Protein IDBP-100274.6
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 ENSP00000359385
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:0001843 neural tube closure
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
GO:0072359 circulatory system development
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 B4DJ85
UniProt Splice Variant
Entrez Gene 11146
UniGene Hs.49105
RefSeq NP_444504
HUGO HGNC:14373
OMIM 601749
CCDS CCDS738
HPRD 03451
IMGT
EMBL AJ302727 AJ302728 AJ302729 AJ302730 AJ302731 AJ302732 AJ302733 AJ302734 AJ302735 AJ347709 AK295971 AL451010 BC001257 CH471097 U73704
GenPept AAC50908 AAH01257 BAG58747 CAC69882 CAC82938 CAC88124 CAH70761 EAW73098