Aliases for EMILIN1 Gene
External Ids for EMILIN1 Gene
Previous GeneCards Identifiers for EMILIN1 Gene
This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
GeneCards Summary for EMILIN1 Gene
EMILIN1 (Elastin Microfibril Interfacer 1) is a Protein Coding gene. Diseases associated with EMILIN1 include Emilin-1-Related Connective Tissue Disease and Fructosuria, Essential. Gene Ontology (GO) annotations related to this gene include identical protein binding and extracellular matrix constituent conferring elasticity. An important paralog of this gene is EMILIN2.
UniProtKB/Swiss-Prot for EMILIN1 Gene
May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.