FBN1
Summary: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| fibrillin 1 | MIM:134797 | Ensembl:ENSG00000166147 | HGNC:HGNC:3603 | PA28016 | 15q21.1 |
GO terms in FBN1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005178 | integrin binding |
| MF | IEA | GO:0005179 | hormone activity |
| MF | IBA | GO:0005201 | extracellular matrix structural constituent |
| MF | IDA | GO:0005201 | extracellular matrix structural constituent |
| MF | IDA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008201 | heparin binding |
| MF | IC | GO:0030023 | extracellular matrix constituent conferring elasticity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IPI | GO:0044877 | protein-containing complex binding |
| CC | IDA | GO:0001527 | microfibril |
| CC | HDA | GO:0005576 | extracellular region |
| CC | IDA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005604 | basement membrane |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | HDA | GO:0031012 | extracellular matrix |
| CC | IBA | GO:0031012 | extracellular matrix |
| CC | IDA | GO:0031012 | extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| BP | IMP | GO:0001501 | skeletal system development |
| BP | IEA | GO:0001656 | metanephros development |
| BP | IMP | GO:0007507 | heart development |
| BP | IBA | GO:0009653 | anatomical structure morphogenesis |
| BP | IEA | GO:0010469 | regulation of signaling receptor activity |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IDA | GO:0033627 | cell adhesion mediated by integrin |
| BP | ISS | GO:0035582 | sequestering of BMP in extracellular matrix |
| BP | ISS | GO:0035583 | sequestering of TGFbeta in extracellular matrix |
| BP | IEP | GO:0043010 | camera-type eye development |
| BP | TAS | GO:0043687 | post-translational protein modification |
| BP | TAS | GO:0044267 | cellular protein metabolic process |
| BP | IDA | GO:0045671 | negative regulation of osteoclast differentiation |
| BP | IEP | GO:0048048 | embryonic eye morphogenesis |
| BP | IEP | GO:0048050 | post-embryonic eye morphogenesis |
| BP | IEA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | IEA | GO:1990314 | cellular response to insulin-like growth factor stimulus |
| BP | IDA | GO:2001205 | negative regulation of osteoclast development |
Gene expression in normal tissue: FBN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FBN1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | integrin1_pathway | Beta1 integrin cell surface interactions |
| pid | integrin3_pathway | Beta3 integrin cell surface interactions |
| pid | integrin5_pathway | Beta5 beta6 beta7 and beta8 integrin cell surface interactions |
| wikipathways | WP3668 | Hypothesized Pathways in Pathogenesis of Cardiovascular Disease |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1566948 | Elastic fibre formation |
| reactome | R-HSA-1566948 | Elastic fibre formation |
| reactome | R-HSA-2129379 | Molecules associated with elastic fibres |
| reactome | R-HSA-2129379 | Molecules associated with elastic fibres |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-8957275 | Post-translational protein phosphorylation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD64 | Parbendazole | 4 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD369 | TGX-115 | 2 |
| iGMDRD874 | BRD8958 | 1 |
| iGMDRD23 | Gossypol | 4 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD524 | ISX-9 | 3 |
| iGMDRD188 | Piperlongumine | 1 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD730 | Kahalalide F | 2 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD398 | Sepantronium | 4 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD441 | TW 37 | 2 |
| iGMDRD480 | KU0060648 | 1 |
| iGMDRD138 | PX 12 | 1 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD613 | CHEMBL258148 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD466 | Chaetocin | 1 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD634 | SCHEMBL2608041 | 4 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD152 | 179324-69-7 | 4 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD76 | Simvastatin | 2 |
| iGMDRD126 | Tipifarnib | 1 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD433 | Lexibulin | 1 |
| iGMDRD505 | Pevonedistat | 7 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD42 | Vorinostat | 3 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD329 | Merck60 | 6 |
| iGMDRD105 | Triptolide | 3 |
| iGMDRD221 | Tamoxifen | 2 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD202 | Curcumin | 2 |
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 6 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD237 | ABT-751 | 1 |
| iGMDRD84 | Lovastatin acid | 1 |
| iGMDRD48 | Dexamethasone | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FBN1
CLASSFICATION
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