Human Gene FBLN5 (ENST00000342058.9) from GENCODE V44
Description: Homo sapiens fibulin 5 (FBLN5), transcript variant 1, mRNA. (from RefSeq NM_006329) RefSeq Summary (NM_006329): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000342058.9 Gencode Gene: ENSG00000140092.16 Transcript (Including UTRs) Position: hg38 chr14:91,869,411-91,947,694 Size: 78,284 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr14:91,870,224-91,947,229 Size: 77,006 Coding Exon Count: 11
ID:FBLN5_HUMAN DESCRIPTION: RecName: Full=Fibulin-5; Short=FIBL-5; AltName: Full=Developmental arteries and neural crest EGF-like protein; Short=Dance; AltName: Full=Urine p50 protein; Short=UP50; Flags: Precursor; 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. SUBUNIT: Homodimer. INTERACTION: O95967: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; SUBCELLULAR LOCATION: Secreted. 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. DISEASE: Defects in FBLN5 are the cause of cutis laxa, autosomal dominant, type 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. DISEASE: Defects in FBLN5 are a cause of cutis laxa, autosomal recessive, type 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. DISEASE: Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3) [MIM:608895]. 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. SIMILARITY: Belongs to the fibulin family. SIMILARITY: Contains 6 EGF-like domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBLN5";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UBX5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.