Protein Description

Gene Symbol FBN1
Entrez ID 2200
Uniprot ID P35555
Description fibrillin 1
Chromosomal Location chr15: 48,408,306-48,645,849
Ontology GO ID GO Term Definition Evidence

BP

GO:0001501

skeletal system development

The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).

IMP

BP

GO:0001656

metanephros development

The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine.

IEA

BP

GO:0007507

heart development

The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.

IMP

BP

GO:0022617

extracellular matrix disassembly

A process that results in the breakdown of the extracellular matrix.

TAS

BP

GO:0030198

extracellular matrix organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.

TAS

BP

GO:0033627

cell adhesion mediated by integrin

The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits.

IDA

BP

GO:0035582

sequestering of BMP in extracellular matrix

Confining a bone morphogenetic protein (BMP) to the extracellular matrix (ECM), such that it is separated from other components of the signaling pathway, including its cell surface receptor. Bone morphogenetic proteins (BMPs) are secreted as homodimers, non-covalently associated with N-terminal pro-peptides, and are targeted to the extracellular matrix through interaction with matrix proteins.

ISS

BP

GO:0035583

sequestering of TGFbeta in extracellular matrix

Confining TGFbeta to the extracellular matrix (ECM) such that it is separated from other components of the signaling pathway, including its cell surface receptor. TGFbeta is secreted as part of a latent complex that is targeted to the extracellular matrix through latent-TGFbeta-binding protein (LTBP)-mediated association with matrix proteins.

ISS

BP

GO:0043010

camera-type eye development

The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.

IEP

BP

GO:0045671

negative regulation of osteoclast differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation.

IDA

BP

GO:0048048

embryonic eye morphogenesis

The process occurring in the embryo by which the anatomical structures of the post-embryonic eye are generated and organized.

IEP

BP

GO:0048050

post-embryonic eye morphogenesis

The process, occurring after embryonic development, by which the anatomical structures of the eye are generated and organized. The eye is the organ of sight.

IEP

BP

GO:0071560

cellular response to transforming growth factor beta stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.

IEA

BP

GO:0090287

regulation of cellular response to growth factor stimulus

Any process that modulates the rate, frequency, or extent of a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.

IBA

BP

GO:1990314

cellular response to insulin-like growth factor stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin-like growth factor stimulus.

IEA

BP

GO:2001205

negative regulation of osteoclast development

Any process that stops, prevents or reduces the frequency, rate or extent of osteoclast development.

IDA

CC

GO:0001527

microfibril

Extracellular matrix components occurring independently or along with elastin. Thought to have force-bearing functions in tendon. In addition to fibrillins, microfibrils may contain other associated proteins.

IDA

CC

GO:0005576

extracellular region

The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

IDA|TAS

CC

GO:0005578

proteinaceous extracellular matrix

A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity. An example of this component is found in Mus musculus.

IDA

CC

GO:0005604

basement membrane

A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.

IDA

CC

GO:0005615

extracellular space

That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

IDA

CC

GO:0031012

extracellular matrix

A structure lying external to one or more cells, which provides structural support for cells or tissues.

IDA

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0005178

integrin binding

Interacting selectively and non-covalently with an integrin.

IPI

MF

GO:0005179

hormone activity

The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process.

IEA

MF

GO:0005201

extracellular matrix structural constituent

The action of a molecule that contributes to the structural integrity of the extracellular matrix.

IDA

MF

GO:0005509

calcium ion binding

Interacting selectively and non-covalently with calcium ions (Ca2+).

IDA

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0008201

heparin binding

Interacting selectively and non-covalently with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.

IDA

MF

GO:0030023

extracellular matrix constituent conferring elasticity

A component of the extracellular matrix that enables the matrix to recoil after transient stretching.

IC

MF

GO:0032403

protein complex binding

Interacting selectively and non-covalently with any protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

Domain ID Description

IPR000152

EGF-type aspartate/asparagine hydroxylation site

IPR000742

EGF-like domain

IPR001881

EGF-like calcium-binding domain

IPR009030

Growth factor receptor cysteine-rich domain

IPR011398

Fibrillin

IPR013032

EGF-like, conserved site

IPR017878

TB domain

IPR018097

EGF-like calcium-binding, conserved site

IPR026823

Complement Clr-like EGF domain

Pathway ID Pathway Term Pathway Source

WP3668

Hypothesized Pathways in Pathogenesis of Cardiovascular Disease

WikiPathways

UMLS CUI UMLS Term

C0003496

Aortic Rupture

C0003706

Arachnodactyly

C0013581

Ectopia Lentis

C0014175

Endometriosis

C0020456

Hyperglycemia

C0020459

Hyperinsulinism

C0024796

Marfan Syndrome

C0162872

Aortic Aneurysm, Thoracic

C0265313

Weill-Marchesani Syndrome

C1869115

Weill-Marchesani Syndrome, Autosomal Dominant

Tissue Cell Type

endometrium

cells in endometrial stroma

placenta

decidual cells

skin

fibroblasts

soft tissue

fibroblasts

soft tissue

adipocytes

No databases found.

Pubmed ID Author Year Title

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

23824412

Piltonen et al.

2013

Mesenchymal Stem/Progenitors and Other Endometrial Cell Types From Women With Polycystic Ovary Syndrome (PCOS) Display Inflammatory and Oncogenic Potential

25393639

Ambekar et al.

2014

Proteomics of follicular fluid from women with polycystic ovary syndrome suggests molecular defects in follicular development

Gene Symbol Entrez ID Uniprot ID Score

CALR

811

P27797

0.52

DCN

1634

P07585

0.52

FN1

2335

P02751

0.52

HSPG2

3339

P98160

0.52

FLNB

2317

O75369

0.63

MFAP4

4239

P55083

0.65

FBN2

2201

P35556

0.66

VCAN

1462

P13611

0.75

LOX

4015

P28300

0.76

FBN1

2200

P35555

0.86

ELN

2006

P15502

0.89

ADAMTSL5

339366

Q6ZMM2

0.56

MFAP5

8076

Q13361

0.59

RHOB

388

P62745

0.63

ATXN7

6314

O15265

0.63

LTBP4

8425

Q8N2S1

0.63

SPRY2

10253

O43597

0.63

FBLN5

10516

Q9UBX5

0.63

ZFP41

286128

Q8N8Y5

0.63

LTBP1

4052

Q14766

0.75

MFAP2

4237

P55001

0.75

MYOC

4653

Q99972

0.75

EFEMP2

30008

O95967

0.76

FBLN2

2199

P98095

0.86