ID:GLMN_HUMAN DESCRIPTION: RecName: Full=Glomulin; AltName: Full=FK506-binding protein-associated protein; Short=FAP; AltName: Full=FKBP-associated protein; 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. SUBUNIT: Monomer. Isoform 1 interacts with notphosphorylated MET and is released upon receptor phosphorylation. Isoform 2 interacts with FKBP59 and FKBP12. Isoform 1 is part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1. TISSUE SPECIFICITY: Ubiquitous. PTM: Phosphorylated on tyrosine residues. DISEASE: Defects in GLMN are the cause of glomuvenous malformations (GVMs) [MIM:138000]. GVMs are characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. MISCELLANEOUS: Rapamycin and FK506 abolish the interaction in a dose dependent manner. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLMN"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GLMNID43022ch1p22.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92990
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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
AK295971 - Homo sapiens cDNA FLJ60587 complete cds, highly similar to Glomulin. U73704 - Homo sapiens 48 kDa FKBP-associated protein FAP48 mRNA, complete cds. BC001257 - Homo sapiens glomulin, FKBP associated protein, mRNA (cDNA clone MGC:5001 IMAGE:3454182), complete cds. AJ347709 - Homo sapiens mRNA for FKBP-associated protein. JD294300 - Sequence 275324 from Patent EP1572962. JD294299 - Sequence 275323 from Patent EP1572962. AJ302735 - Homo sapiens mRNA for glomulin (GLOMULIN gene). KJ893235 - Synthetic construct Homo sapiens clone ccsbBroadEn_02629 GLMN gene, encodes complete protein. AB590607 - Synthetic construct DNA, clone: pFN21AE2018, Homo sapiens GLMN gene for glomulin, FKBP associated protein, without stop codon, in Flexi system. JD312490 - Sequence 293514 from Patent EP1572962. JD372116 - Sequence 353140 from Patent EP1572962. JD043582 - Sequence 24606 from Patent EP1572962. JD048044 - Sequence 29068 from Patent EP1572962. JD306055 - Sequence 287079 from Patent EP1572962. JD406157 - Sequence 387181 from Patent EP1572962. JD205891 - Sequence 186915 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q92990 (Reactome details) participates in the following event(s):
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
