EMILIN1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EMILIN1 |
| Official Name | elastin microfibril interfacer 1 [Source:HGNC Symbol;Acc:HGNC:19880] |
| Ensembl ID | ENSG00000138080 |
| Bio databases IDs | |
| Aliases | elastin microfibril interfacer 1 |
| Synonyms | 5830419M17Rik, ATBFS, BB105748, Elastin Microbfibrill Interfacer 1, elastin microfibril interfacer 1, EMI, EMILIN, gp115, HMN10, HMND10 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EMILIN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular matrix constituent conferring elasticity
- cell adhesion molecule binding
- integrin binding
- coiled-coil domain
- EMI domain
- protein binding
- identical protein binding
- globular head domain
- cysteine rich domain
- C1q domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant distal hereditary motor neuronopathy type 10
- arterial tortuosity-bone fragility syndrome
- breast cancer
- imiquimod-induced psoriasis
- uterine serous papillary cancer
- psoriasis
- autosomal dominant Emery-Dreifuss muscular dystrophy
- juvenile dermatomyositis
- Duchenne muscular dystrophy
- preeclampsia
role in cell
- expression in
- proliferation
- recruitment
- adhesion
- morphology
- assembly
- organization
- trafficking
- migration by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cell borders
- fibrils
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EMILIN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- negative regulation of angiogenesis
- aortic valve morphogenesis
- positive regulation of blood coagulation
- negative regulation of SMAD protein import into nucleus
- cell adhesion
- regulation of blood pressure
- regulation of cell proliferation
- positive regulation of angiogenesis
- positive regulation of defense response to bacterium
- negative regulation of gene expression
- negative regulation of vascular endothelial growth factor signaling pathway
- cell adhesion mediated by integrin
- negative regulation of collagen biosynthetic process
- elastic fiber assembly
- negative regulation of ERK1 and ERK2 cascade
- positive regulation of gene expression
- negative regulation of vascular endothelial growth factor receptor signaling pathway
- positive regulation of apoptotic process
- positive regulation of cell-substrate adhesion
- negative regulation of cell activation
- cell migration
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- collagen
- extracellular region
- alpha4-beta1 integrin complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- extracellular matrix constituent conferring elasticity
- extracellular matrix structural constituent
- binding, bridging