Recombinant Human Fibulin-5 (FBLN5)

Uniprot Id

Q9UBX5

Target Species

Human

Target Name

FBLN5

Target Full Name

Fibulin-5

Target Function

Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN. Stabilizes and organizes elastic fibers in the skin, lung and vasculature. Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling. May act as an adapter that mediates the interaction between FBN1 and ELN.

Target Involvement

Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD); Cutis laxa, autosomal dominant, 2 (ADCL2); Cutis laxa, autosomal recessive, 1A (ARCL1A); Macular degeneration, age-related, 3 (ARMD3)

Target Subcellular Location

Secreted. Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibulin family

Target Tissue Specificity

Expressed in skin fibroblasts (at protein level)(PubMed:17035250). 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

Target Synonyms

ADCL2; ARCL1A; ARMD3; Dance; Developmental arteries and neural crest EGF like protein; Developmental arteries and neural crest EGF-like protein; EVEC; Fbln5; FBLN5_HUMAN; FIBL 5; FIBL-5; Fibulin-5; FLJ90059; UP50; Urine p50 protein

Target Background

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).