FBLN5

Fibulin-5 (also known as DANCE (developmental arteries and neural crest epidermal growth factor (EGF)-like)) is a protein that in humans is encoded by the FBLN5 gene.^[5][6]

FBLN5
Identifiers
Aliases	FBLN5, ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, UP50, HNARMD, fibulin 5, CMT1H
External IDs	OMIM: 604580; MGI: 1346091; HomoloGene: 38170; GeneCards: FBLN5; OMA:FBLN5 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q32.12 Start 91,869,411 bp[1] End 91,947,987 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 E Start 101,712,824 bp[2] End 101,785,314 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thoracic aorta ascending aorta Descending thoracic aorta right lung right coronary artery stromal cell of endometrium left coronary artery gallbladder popliteal artery tibial arteries Top expressed in external carotid artery ascending aorta tunica media of zone of aorta internal carotid artery semi-lunar valve umbilical cord stroma of bone marrow aortic valve left lung lobe sciatic nerve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein C-terminus binding calcium ion binding protein homodimerization activity protein binding integrin binding extracellular matrix constituent conferring elasticity Cellular component extracellular exosome extracellular matrix elastic fiber extracellular space extracellular region collagen-containing extracellular matrix Biological process secretion regulation of cell growth regulation of removal of superoxide radicals cell-matrix adhesion extracellular matrix organization protein localization to cell surface cell adhesion elastic fiber assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10516 23876 Ensembl ENSG00000140092 ENSMUSG00000021186 UniProt Q9UBX5 Q9WVH9 RefSeq (mRNA) NM_006329 NM_001384158 NM_001384159 NM_001384160 NM_001384161 NM_001384162 NM_011812 NM_001361987 RefSeq (protein) NP_006320 NP_001371087 NP_001371088 NP_001371089 NP_001371090 NP_001371091 NP_035942 NP_001348916 Location (UCSC) Chr 14: 91.87 – 91.95 Mb Chr 12: 101.71 – 101.79 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

Interactions

FBLN5 has been shown to interact with LOXL1^[7] and apolipoprotein(a).^[8]

Clinical relevance

FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.^[9]