InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FBLN5

Summary

InnateDB Protein

IDBP-16579.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FBLN5

Protein Name

fibulin 5

Synonyms

ADCL2; ARCL1A; ARMD3; DANCE; EVEC; FIBL-5; UP50;

Species

Homo sapiens

Ensembl Protein

ENSP00000345008

InnateDB Gene

IDBG-16575 (FBLN5)

Protein Structure

UniProt Annotation

Function

Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a vascular ligand for integrin receptors and may play a role in vascular development and remodeling.

Subcellular Localization

Secreted.

Disease Associations

Cutis laxa, autosomal dominant, 2 (ADCL2) [MIM:614434]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. {ECO:0000269PubMed:12618961}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. {ECO:0000269PubMed:12189163, ECO:0000269PubMed:16691202}. Note=The disease is caused by mutations affecting the gene represented in this entry.Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:15269314}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding

Biological Process

GO:0001558	regulation of cell growth
GO:0007160	cell-matrix adhesion
GO:0030198	extracellular matrix organization
GO:0034394	protein localization to cell surface
GO:0048251	elastic fiber assembly
GO:2000121	regulation of removal of superoxide radicals

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome
GO:0071953	elastic fiber