TISIDB

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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 [ TOP ]
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 [ TOP ]
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 [ TOP ]
KEGG	-
Reactome	R-HSA-1566948: Elastic fibre formation R-HSA-1474244: Extracellular matrix organization R-HSA-216083: Integrin cell surface interactions

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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 [ TOP ]
There is no record.

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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

[ TOP ]

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
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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

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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
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-1.016	0.0395
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-1.074	0.472
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.962	0.329
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.804	0.0693
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.96	0.728
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.603	0.868
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.299	0.662
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.735	0.686
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.321	0.883
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.832	0.624
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	2.674	0.229
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.324	0.118

> Mutation difference between responders and non-responders

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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
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	14.3	0	14.3	0.196
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	20	0	20	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	14.8	4.1	10.7	0.0828
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	14.8	5.1	9.7	0.199
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	9.5	0	9.5	0.492
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	12.5	0	12.5	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	7.7	0	7.7	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	6.2	4.9	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	20	0	20	0.357
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	14.3	-14.3	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	2.6	0	2.6	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	4.5	0	4.5	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	9.1	15.4	-6.3	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	16.7	0	16.7	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	16.7	-16.7	1

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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 [ TOP ]

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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 [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
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 [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of FBN1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between FBN1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	FBN1
Name	fibrillin 1
Aliases	MASS; Marfan syndrome; FBN; MFS1; fibrillin 1 (Marfan syndrome); ACMICD; ECTOL1; GPHYSD2; SSKS; WMS2; fibril ......
Chromosomal Location	15q21.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting FBN1 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

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