Browse FBN1

Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Secreted Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166). ; SUBCELLULAR LOCATION: Asprosin: Secreted Note=Secreted into the plasma. ; SUBCELLULAR LOCATION: Fibrillin-1: Secreted, extracellular space, extracellular matrix
Domain PF12662 Complement Clr-like EGF-like
PF07645 Calcium-binding EGF domain
PF00683 TB domain
Function

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). ; FUNCTION: Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.

> Gene Ontology
 
Biological Process GO:0001501 skeletal system development
GO:0001654 eye development
GO:0001655 urogenital system development
GO:0001656 metanephros development
GO:0001822 kidney development
GO:0002521 leukocyte differentiation
GO:0002573 myeloid leukocyte differentiation
GO:0002683 negative regulation of immune system process
GO:0002761 regulation of myeloid leukocyte differentiation
GO:0002762 negative regulation of myeloid leukocyte differentiation
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007423 sensory organ development
GO:0007507 heart development
GO:0009791 post-embryonic development
GO:0009886 post-embryonic animal morphogenesis
GO:0010721 negative regulation of cell development
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0022617 extracellular matrix disassembly
GO:0030099 myeloid cell differentiation
GO:0030198 extracellular matrix organization
GO:0030316 osteoclast differentiation
GO:0030509 BMP signaling pathway
GO:0030510 regulation of BMP signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0033627 cell adhesion mediated by integrin
GO:0035581 sequestering of extracellular ligand from receptor
GO:0035582 sequestering of BMP in extracellular matrix
GO:0035583 sequestering of TGFbeta in extracellular matrix
GO:0036035 osteoclast development
GO:0043010 camera-type eye development
GO:0043062 extracellular structure organization
GO:0043434 response to peptide hormone
GO:0045185 maintenance of protein location
GO:0045637 regulation of myeloid cell differentiation
GO:0045638 negative regulation of myeloid cell differentiation
GO:0045670 regulation of osteoclast differentiation
GO:0045671 negative regulation of osteoclast differentiation
GO:0048048 embryonic eye morphogenesis
GO:0048050 post-embryonic eye morphogenesis
GO:0048562 embryonic organ morphogenesis
GO:0048563 post-embryonic animal organ morphogenesis
GO:0048568 embryonic organ development
GO:0048569 post-embryonic animal organ development
GO:0048592 eye morphogenesis
GO:0051235 maintenance of location
GO:0060348 bone development
GO:0061515 myeloid cell development
GO:0071375 cellular response to peptide hormone stimulus
GO:0071417 cellular response to organonitrogen compound
GO:0071559 response to transforming growth factor beta
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0071692 protein localization to extracellular region
GO:0071694 maintenance of protein location in extracellular region
GO:0071772 response to BMP
GO:0071773 cellular response to BMP stimulus
GO:0072001 renal system development
GO:0090092 regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0090101 negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0090287 regulation of cellular response to growth factor stimulus
GO:0090288 negative regulation of cellular response to growth factor stimulus
GO:0090596 sensory organ morphogenesis
GO:0098751 bone cell development
GO:1900115 extracellular regulation of signal transduction
GO:1900116 extracellular negative regulation of signal transduction
GO:1901652 response to peptide
GO:1901653 cellular response to peptide
GO:1902105 regulation of leukocyte differentiation
GO:1902106 negative regulation of leukocyte differentiation
GO:1903010 regulation of bone development
GO:1903011 negative regulation of bone development
GO:1903706 regulation of hemopoiesis
GO:1903707 negative regulation of hemopoiesis
GO:1903844 regulation of cellular response to transforming growth factor beta stimulus
GO:1903845 negative regulation of cellular response to transforming growth factor beta stimulus
GO:1990314 cellular response to insulin-like growth factor stimulus
GO:2001204 regulation of osteoclast development
GO:2001205 negative regulation of osteoclast development
Molecular Function GO:0005178 integrin binding
GO:0005179 hormone activity
GO:0005201 extracellular matrix structural constituent
GO:0005539 glycosaminoglycan binding
GO:0008201 heparin binding
GO:0030023 extracellular matrix constituent conferring elasticity
GO:0050839 cell adhesion molecule binding
GO:0097493 structural molecule activity conferring elasticity
GO:1901681 sulfur compound binding
Cellular Component GO:0001527 microfibril
GO:0005578 proteinaceous extracellular matrix
GO:0005604 basement membrane
GO:0043205 fibril
GO:0044420 extracellular matrix component
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-1566948: Elastic fibre formation
R-HSA-1474244: Extracellular matrix organization
R-HSA-216083: Integrin cell surface interactions
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between FBN1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.

Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of FBN1 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of FBN1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-1.0160.0395
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-1.0740.472
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.9620.329
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.8040.0693
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.960.728
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.6030.868
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.2990.662
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.7350.686
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.3210.883
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.8320.624
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 282.6740.229
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.3240.118
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of FBN1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 141714.3014.30.196
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103200201
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277314.84.110.70.0828
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275914.85.19.70.199
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21179.509.50.492
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.707.71
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.16.24.91
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59200200.357
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47014.3-14.31
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.602.61
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.504.51
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11139.115.4-6.31
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 6116.7016.71
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 512016.7-16.71
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of FBN1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of FBN1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by FBN1.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of FBN1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of FBN1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between FBN1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolFBN1
Namefibrillin 1
Aliases MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location15q21.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting FBN1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.