NP_006320.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
50,180 Da
NCBI Official Full Name
fibulin-5
NCBI Official Synonym Full Names
fibulin 5
NCBI Official Synonym Symbols
EVEC; UP50; ADCL2; ARMD3; DANCE; ARCL1A; FIBL-5 [Similar Products]
NCBI Protein Information
fibulin-5; urine p50 protein; developmental arteries and neural crest EGF-like protein
UniProt Protein Name
Fibulin-5
UniProt Synonym Protein Names
Developmental arteries and neural crest EGF-like protein; Dance; Urine p50 protein; UP50
UniProt Synonym Gene Names
UniProt Entry Name
FBLN5_HUMAN
NCBI Summary for FBLN5
The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
UniProt Comments for FBLN5
FBLN5: 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. Defects in FBLN5 are the cause of cutis laxa, autosomal dominant, type 2 (ADCL2). 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. Defects in FBLN5 are a cause of cutis laxa, autosomal recessive, type 1A (ARCL1A). 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. Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3). ARMD is a multifactorial 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 (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Belongs to the fibulin family.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 14q32.1
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; extracellular region
Molecular Function: integrin binding; protein C-terminus binding; protein binding; protein homodimerization activity; calcium ion binding
Biological Process: elastic fiber assembly; extracellular matrix organization and biogenesis; secretion; cell-matrix adhesion; regulation of cell growth
Disease: Cutis Laxa, Autosomal Dominant 2; Macular Degeneration, Age-related, 3; Cutis Laxa, Autosomal Recessive, Type Ia
Research Articles on FBLN5
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Products associated with FBLN5 elisa kit
Pathways associated with FBLN5 elisa kit
Diseases associated with FBLN5 elisa kit
Organs/Tissues associated with FBLN5 elisa kit
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