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 |
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 |