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MGP004270

UniProt Annotations

Entry Information
Gene Namefibulin 5
Protein EntryFBLN5_HUMAN
UniProt IDQ9UBX5
SpeciesHuman
Comments
Comment typeDescription
DiseaseCutis 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:0000269|PubMed:12618961}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCutis 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:0000269|PubMed:12189163, ECO:0000269|PubMed:16652333, ECO:0000269|PubMed:16691202, ECO:0000269|PubMed:17035250, ECO:0000269|PubMed:18185537}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations affecting this gene can modify the phenotype of diseases caused by ELN mutations. {ECO:0000269|PubMed:19194475}.
DiseaseMacular 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:0000269|PubMed:15269314, ECO:0000269|PubMed:16652333}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionEssential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). 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 (PubMed:10428823). {ECO:0000250|UniProtKB:Q9WVH9, ECO:0000269|PubMed:10428823, ECO:0000269|PubMed:18185537}.
InteractionO95967:EFEMP2; NbExp=3; IntAct=EBI-947897, EBI-743414; P15502:ELN; NbExp=3; IntAct=EBI-947897, EBI-1222108; P35555:FBN1; NbExp=3; IntAct=EBI-947897, EBI-2505934; P28300:LOX; NbExp=2; IntAct=EBI-947897, EBI-3893481; Q14767:LTBP2; NbExp=2; IntAct=EBI-947897, EBI-1546118;
PtmN-glycosylated. {ECO:0000269|PubMed:19617354}.
SimilarityBelongs to the fibulin family. {ECO:0000305}.
SimilarityContains 6 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationSecreted {ECO:0000269|PubMed:16652333, ECO:0000269|PubMed:17035250, ECO:0000269|PubMed:20599547}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17035250}. Note=co-localizes with ELN in elastic fibers. {ECO:0000269|PubMed:17035250}.
SubunitHomodimer (PubMed:20007835). Monomer, homodimerizes in presence of Ca(2+) (PubMed:19617354). Interacts with ELN (PubMed:17035250). Interacts (via N-terminus) with the integrins ITGAV/ITGB3, ITGAV/ITGB5 and ITGA9/ITGB1 (By similarity). {ECO:0000250, ECO:0000269|PubMed:17035250, ECO:0000269|PubMed:19617354, ECO:0000269|PubMed:20007835}.
Tissue SpecificityExpressed 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 (PubMed:10428823). {ECO:0000269|PubMed:10428823, ECO:0000269|PubMed:17035250}.
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