Homo sapiens Gene: FBLN5
Summary
InnateDB Gene IDBG-16575.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FBLN5
Gene Name fibulin 5
Synonyms ADCL2; ARCL1A; ARMD3; DANCE; EVEC; FIBL-5; UP50;
Species Homo sapiens
Ensembl Gene ENSG00000140092
Encoded Proteins
fibulin 5
fibulin 5
fibulin 5
fibulin 5
fibulin 5
fibulin 5
fibulin 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:91869412-91947987
Strand Reverse strand
Band q32.12
Transcripts
ENST00000267620 ENSP00000267620
ENST00000342058 ENSP00000345008
ENST00000556961
ENST00000556154 ENSP00000451982
ENST00000554121 ENSP00000450719
ENST00000557088 ENSP00000451002
ENST00000557462
ENST00000554468 ENSP00000451486
ENST00000557570 ENSP00000450787
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
Biological Process
GO:0001558 regulation of cell growth
GO:0007160 cell-matrix adhesion
GO:0007165 signal transduction
GO:0007596 blood coagulation
GO:0030198 extracellular matrix organization
GO:0034394 protein localization to cell surface
GO:0048251 elastic fiber assembly
GO:2000121 regulation of removal of superoxide radicals
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0016020 membrane
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
GO:0071953 elastic fiber
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Elastic fibre formation pathway
Extracellular matrix organization pathway
Molecules associated with elastic fibres pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL G3V3Y2
UniProt Splice Variant
Entrez Gene 10516
UniGene Hs.707292
RefSeq NM_006329
HUGO HGNC:3602
OMIM 604580
CCDS CCDS9898
HPRD 05204
IMGT
EMBL AL049872 AL590328
GenPept
RNA Seq Atlas 10516