InnateDB Protein
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IDBP-100274.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GLMN
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Protein Name
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glomulin, FKBP associated protein
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Synonyms
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FAP; FAP48; FAP68; FKBPAP; GLML; GVM; VMGLOM;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359385
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InnateDB Gene
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IDBG-100272 (GLMN)
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Protein Structure
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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}.
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Subcellular Localization |
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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.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
28
[view]
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Protein-Protein |
27
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005171
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hepatocyte growth factor receptor binding
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GO:0005515
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protein binding
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GO:0031625
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ubiquitin protein ligase binding
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GO:0055105
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ubiquitin-protein transferase inhibitor activity
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Biological Process |
GO:0001570
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vasculogenesis
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GO:0001843
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neural tube closure
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GO:0031397
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negative regulation of protein ubiquitination
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GO:0032434
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regulation of proteasomal ubiquitin-dependent protein catabolic process
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GO:0040029
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regulation of gene expression, epigenetic
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GO:0042130
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negative regulation of T cell proliferation
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GO:0042327
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positive regulation of phosphorylation
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GO:0042692
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muscle cell differentiation
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GO:0045086
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positive regulation of interleukin-2 biosynthetic process
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GO:0050715
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positive regulation of cytokine secretion
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GO:0072359
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circulatory system development
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Cellular Component |
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PDB ID |
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InterPro |
IPR013877
YAP-binding/ALF4/Glomulin
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PFAM |
PF08568
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92990
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PhosphoSite |
PhosphoSite-Q92990
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TrEMBL |
B4DJ85
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UniProt Splice Variant |
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Entrez Gene |
11146
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UniGene |
Hs.49105
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RefSeq |
NP_444504
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HUGO |
HGNC:14373
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OMIM |
601749
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CCDS |
CCDS738
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HPRD |
03451
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IMGT |
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EMBL |
AJ302727
AJ302728
AJ302729
AJ302730
AJ302731
AJ302732
AJ302733
AJ302734
AJ302735
AJ347709
AK295971
AL451010
BC001257
CH471097
U73704
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GenPept |
AAC50908
AAH01257
BAG58747
CAC69882
CAC82938
CAC88124
CAH70761
EAW73098
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