======= FBN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: FBN1
  * **<color #00a2e8>Official Name</color>**: fibrillin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2200|2200]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35555|P35555]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=FBN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20FBN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/134797|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1- containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell- surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921). {ECO:0000250|UniProtKB:Q61554, ECO:0000269|PubMed:11461921, ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15062093, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:1860873, ECO:0000269|PubMed:24039232, ECO:0000303|PubMed:27026396}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|TB|
|EGF 3|
|cEGF|
|EGF CA|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sequestering of TGFbeta in extracellular matrix|
|sequestering of BMP in extracellular matrix|
|negative regulation of osteoclast development|
|post-embryonic eye morphogenesis|
|maintenance of protein location in extracellular region|
|post-embryonic animal organ morphogenesis|
|cellular response to insulin-like growth factor stimulus|
|sequestering of extracellular ligand from receptor|
|extracellular matrix constituent conferring elasticity|
|microfibril|
|negative regulation of bone development|
|extracellular regulation of signal transduction|
|extracellular negative regulation of signal transduction|
|regulation of osteoclast development|
|post-embryonic animal morphogenesis|
|post-embryonic animal organ development|
|regulation of bone development|
|cell adhesion mediated by integrin|
|negative regulation of osteoclast differentiation|
|embryonic eye morphogenesis|
|negative regulation of myeloid leukocyte differentiation|
|negative regulation of BMP signaling pathway|
|regulation of osteoclast differentiation|
|negative regulation of transforming growth factor beta receptor signaling pathway|
|negative regulation of cellular response to transforming growth factor beta stimulus|
|negative regulation of myeloid cell differentiation|
|metanephros development|
|regulation of BMP signaling pathway|
|basement membrane|
|post-embryonic development|
|hormone activity|
|negative regulation of leukocyte differentiation|
|maintenance of protein location|
|regulation of transforming growth factor beta receptor signaling pathway|
|regulation of myeloid leukocyte differentiation|
|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|regulation of cellular response to transforming growth factor beta stimulus|
|integrin binding|
|extracellular matrix structural constituent|
|negative regulation of hemopoiesis|
|eye morphogenesis|
|negative regulation of cellular response to growth factor stimulus|
|cellular response to transforming growth factor beta stimulus|
|response to transforming growth factor beta|
|maintenance of location|
|protein localization to extracellular region|
|heparin binding|
|regulation of myeloid cell differentiation|
|extracellular matrix|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|sensory organ morphogenesis|
|cellular response to peptide hormone stimulus|
|protein-containing complex binding|
|kidney development|
|regulation of cellular response to growth factor stimulus|
|regulation of leukocyte differentiation|
|renal system development|
|embryonic organ morphogenesis|
|endoplasmic reticulum lumen|
|camera-type eye development|
|urogenital system development|
|cellular response to peptide|
|negative regulation of cell development|
|extracellular matrix organization|
|eye development|
|visual system development|
|post-translational protein modification|
|collagen-containing extracellular matrix|
|sensory system development|
|extracellular structure organization|
|response to peptide hormone|
|embryonic organ development|
|negative regulation of immune system process|
|regulation of hemopoiesis|
|response to peptide|
|skeletal system development|
|cellular response to growth factor stimulus|
|heart development|
|response to growth factor|
|sensory organ development|
|embryonic morphogenesis|
|cellular response to organonitrogen compound|
|cellular response to hormone stimulus|
|cellular response to nitrogen compound|
|negative regulation of cell differentiation|
|calcium ion binding|
|circulatory system development|
|response to hormone|
|cell adhesion|
|regulation of cell development|
|biological adhesion|
|negative regulation of developmental process|
|animal organ morphogenesis|
|embryo development|
|response to organonitrogen compound|
|cellular response to oxygen-containing compound|
|identical protein binding|
|response to nitrogen compound|
|negative regulation of multicellular organismal process|
|cellular response to endogenous stimulus|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|extracellular space|
|negative regulation of response to stimulus|
|regulation of immune system process|
|regulation of cell differentiation|
|extracellular region|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp502|Milciclib 2μM R08 exp502]]|-1.76|
|[[:results:exp466|Cannabidiol 20μM R08 exp466]]|-1.73|
|[[:results:exp165|RO-3306 3 to 4μM on day4 R04 exp165]]|1.76|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:c:cbwd5|CBWD5]]|0.442|
|[[:human genes:h:hgc6.3|HGC6.3]]|0.431|
|[[:human genes:p:psmb4|PSMB4]]|0.421|
|[[:human genes:c:cbwd3|CBWD3]]|0.419|
|[[:human genes:r:rrm1|RRM1]]|0.407|
|[[:human genes:c:c14orf93|C14orf93]]|0.403|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 2603
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.87 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='FBN1 Expression in NALM6 Cells: 1.87'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>