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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]
FBN1 (Fibrillin 1) is a Protein Coding gene. Diseases associated with FBN1 include Marfan Syndrome and Stiff Skin Syndrome. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is FBN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | IPI | 12807887 |
GO:0005179 | hormone activity | IEA | -- |
GO:0005201 | extracellular matrix structural constituent | IDA,RCA | 20551380 |
GO:0005509 | calcium ion binding | IEA,IDA | 7691719 |
GO:0005515 | protein binding | IPI | 12429738 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001527 | microfibril | IDA | 1860873 |
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005604 | basement membrane | IDA | 3536967 |
GO:0005615 | extracellular space | IDA | 3536967 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
4 | TGF-beta signaling pathway (KEGG) | ||
5 | Elastic fibre formation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IMP | 8188302 |
GO:0001656 | metanephros development | IEA | -- |
GO:0001822 | kidney development | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007507 | heart development | IMP | 15781745 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBN1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FBN1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbn1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbn1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FBN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FBN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbn1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15872 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CABZ01075689.1 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7526 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | B0393.5 32 |
|
|
|
ZK783.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
199991 | Pathogenic: Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 48,497,379(-) | C/T | MISSENSE_VARIANT | |
200118 | Likely Pathogenic: not provided | 48,421,653(-) | C/T | MISSENSE_VARIANT | |
632807 | Likely Pathogenic: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 48,515,476(-) | CAG/C | FRAMESHIFT_VARIANT | |
632811 | Likely Pathogenic: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 48,411,245(-) | CAG/C | FRAMESHIFT_VARIANT | |
632812 | Likely Pathogenic: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 48,411,245(-) | C/CAG | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1208n106 | CNV | deletion | 24896259 |
esv2749666 | CNV | deletion | 23290073 |
esv2749667 | CNV | deletion | 23290073 |
esv2749668 | CNV | deletion | 23290073 |
esv2749669 | CNV | deletion | 23290073 |
esv2749670 | CNV | deletion | 23290073 |
esv3304962 | CNV | mobile element insertion | 20981092 |
esv3327357 | CNV | insertion | 20981092 |
esv3363865 | CNV | insertion | 20981092 |
esv3552418 | CNV | deletion | 23714750 |
esv3552419 | CNV | deletion | 23714750 |
esv3636415 | CNV | loss | 21293372 |
nsv1039824 | CNV | gain | 25217958 |
nsv1047597 | CNV | gain | 25217958 |
nsv477369 | CNV | novel sequence insertion | 20440878 |
nsv817692 | CNV | loss | 17921354 |
nsv827329 | CNV | loss | 20364138 |
nsv833000 | CNV | gain | 17160897 |
nsv94450 | CNV | deletion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
marfan syndrome |
|
|
stiff skin syndrome |
|
|
acromicric dysplasia |
|
|
marfanoid-progeroid-lipodystrophy syndrome |
|
|
geleophysic dysplasia 2 |
|