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 |
|---|---|---|---|---|---|
Namefibrillin 1 OMIM IDMIM:134797 Ensembl IDEnsembl:ENSG00000166147 HGNC IDHGNC:HGNC:3603 PHARMGKB IDPA28016 Map Location15q21.1 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FBN1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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