Tbio FBN1 Fibrillin-1

Protein Classes

PANTHER Classes

Protein / Signaling Molecule / Fibrillin-1

Protein / Extracellular Matrix Protein / Extracellular Matrix Structural Protein / Fibrillin-1

Protein / Extracellular Matrix Protein / Extracellular Matrix Glycoprotein / Fibrillin-1

Protein / Cell Adhesion Molecule / Fibrillin-1

Protein / Calcium-binding Protein / Intracellular Calcium-sensing Protein / Calmodulin / Fibrillin-1

Protein / Calcium-binding Protein / Annexin / Fibrillin-1

DTO Classes

Protein / Calcium-binding Protein / Intracellular Calcium-sensing Protein / Calmodulin / Fibrillin-1

Protein Summary

Description

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). 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. 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]

Uniprot Accession IDs

• P35555
• B2RUU0
• D2JYH6
• Q15972
• Q75N87

Gene Name

• FBN1

Ensembl ID

• ENST00000316623
• ENSP00000325527
• ENSG00000166147

Symbol

• FBN
• FBN
• SGS
• WMS
• MASS
• MFLS
• MFS1
• OCTD
• SSKS
• WMS2
• ACMICD
• ECTOL1
• GPHYSD2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.99
transcription factor perturbation	0.98
biological term	0.97
trait	0.93
phenotype	0.87

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1444.24   (req: < 5)

Gene RIFs: 272   (req: <= 3)

Antibodies: 462   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1444.24   (req: >= 5)

Gene RIFs: 272   (req: > 3)

Antibodies: 462   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 28

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (12)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 12

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body height	EFO_0004339	2	3	2	2.1	98
thoracic aortic aneurysm	EFO_0004282	2	2	0	1.6	91.9
refractive error measurement	EFO_0007814	2	2	1	5.8	80.8
spontaneous coronary artery dissection	EFO_0010820	1	1	0	1.8	54.4
corneal topography	EFO_0004345	2	1	2		54.1

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 12

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body height	EFO_0004339	2	2.1	98
thoracic aortic aneurysm	EFO_0004282	0	1.6	91.9
refractive error measurement	EFO_0007814	1	5.8	80.8
spontaneous coronary artery dissection	EFO_0010820	0	1.8	54.4
corneal topography	EFO_0004345	2		54.1

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Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	fibrillin 1	VGNC:3543	453411
Macaque	fibrillin 1		714451
Mouse	fibrillin 1	MGI:95489	14118
Rat	fibrillin 1	RGD:620908	83727
Dog	fibrillin 1	VGNC:40754	478293

Species	Name	OMA	EggNOG	Inparanoid
Chimp	fibrillin 1
Macaque	fibrillin 1
Mouse	fibrillin 1
Rat	fibrillin 1
Dog	fibrillin 1

Protein Data Bank (11)

1 – 5 of 11

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (152)

Reactome (7)

KEGG (1)

PathwayCommons (3)

WikiPathways (141)

Elastic fibre formation (R-HSA-1566948)

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Find Similar Targets

Items per page:

5

1 – 5 of 7

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Elastic fibre formation	41 targets	R-HSA-1566948
Reactome	Extracellular matrix organization	297 targets	R-HSA-1474244
Reactome	Integrin cell surface interactions	66 targets	R-HSA-216083
Reactome	Metabolism of proteins	2050 targets	R-HSA-392499
Reactome	Post-translational protein modification	1450 targets	R-HSA-597592

Name	Explore in Pharos	Explore in Source
Elastic fibre formation	41 targets	R-HSA-1566948
Extracellular matrix organization	297 targets	R-HSA-1474244
Integrin cell surface interactions	66 targets	R-HSA-216083
Metabolism of proteins	2050 targets	R-HSA-392499
Post-translational protein modification	1450 targets	R-HSA-597592

Gene Ontology Terms (35)

Functions (8)

Components (7)

Processes (20)

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Items per page:

10

1 – 8 of 8

GO Term	Evidence	Assigned by
calcium ion binding	Inferred from Direct Assay (IDA)	UniProtKB
extracellular matrix structural constituent	Inferred from Direct Assay (IDA)	UniProtKB
heparin binding	Inferred from Direct Assay (IDA)	UniProtKB
hormone activity	Inferred from Direct Assay (IDA)	UniProtKB
identical protein binding	Inferred from Physical Interaction (IPI)	IntAct
integrin binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein-containing complex binding	Inferred from Physical Interaction (IPI)	UniProtKB
extracellular matrix constituent conferring elasticity	Inferred by Curator (IC)	UniProtKB

Protein-Protein Interactions (238)

Explore Interacting Targets

1 – 10 of 238

• See Interactions on String-DB

ZNF408

Tbio

Family: TF

Novelty: 0.10649477

p_int: 0.999998957

p_ni: 0.000001026

p_wrong: 1.7e-8

Score: 0.15

Data Source: BioPlex,STRINGDB

ZFP41

Tdark

Family: TF

Novelty: 3.33093006

p_int: 0.999998636

p_ni: 0.000001148

p_wrong: 2.17e-7

Data Source: BioPlex

HRG

Tbio

Novelty: 0.0027048

p_int: 0.999995448

p_ni: 0.000001682

p_wrong: 0.00000287

Data Source: BioPlex

ODAPH

Tbio

Novelty: 0.20386223

p_int: 0.999617853

p_ni: 0.000063935

p_wrong: 0.000318212

Score: 0.188

Data Source: BioPlex,STRINGDB

FN1

Tchem

Novelty: 0.00003647

Score: 0.989

Data Source: STRINGDB

MFAP5

Tbio

Novelty: 0.01839035

Score: 0.987

Data Source: Reactome,STRINGDB

MFAP2

Tbio

Novelty: 0.01599653

Score: 0.985

Data Source: Reactome,STRINGDB

VCAN

Tbio

Novelty: 0.00110986

Score: 0.983

Data Source: STRINGDB

ENAM

Tbio

Novelty: 0.00593293

Score: 0.961

Data Source: STRINGDB

FSTL1

Tbio

Novelty: 0.00557848

Score: 0.958

Data Source: STRINGDB

Publication Statistics

PubMed Score  1444.24

PubMed score by year

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PubTator Score  958.07

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Aortic aneurysm
Calcium
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Dwarfism
EGF-like domain
Extracellular matrix

GWAS Trait Find Similar Targets

Abdominal Aortic Aneurysm
age at onset
body height
brain aneurysm
central corneal thickness
corneal topography
intraocular pressure measurement
Myopia
pulse pressure measurement
refractive error measurement

MGI Phenotype Find Similar Targets

adipose tissue phenotype
behavior/neurological phenotype
cardiovascular system phenotype
craniofacial phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype