Eln Gene Summary [Mouse]

This gene encodes elastin, the extracellular matrix protein that forms a major structural component of several tissues including lungs and arterial walls. Cleavage of the signal peptide from the encoded precursor generates soluble tropoelastin which undergoes lysine-derived crosslinking to form elastin polymers. Mice lacking the encoded protein exhibit defective lung development, and die of an obstructive arterial disease resulting from subendothelial cell proliferation and reorganization of smooth muscle. [provided by RefSeq, Aug 2015]

Details

Type
Protein Coding
Official Symbol
Eln
Official Name
elastin [Source:MGI Symbol;Acc:MGI:95317]
Ensembl ID
ENSMUSG00000029675
Bio databases IDs NCBI: 13717 Ensembl: ENSMUSG00000029675
Aliases elastin
Synonyms ADCL1, E030024M20RIK, ELASTIN, RATTREL11, SVAS, TE, TREL11, Trela, Trela26, Tropoelastin, WBS, WS
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Eln 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
  • extracellular matrix binding
  • hydrophilic domain
  • extracellular matrix structural constituent
  • central domain
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • supravalvular aortic stenosis
  • hereditary disorder
  • autosomal dominant cutis laxa type 1
  • amyotrophic lateral sclerosis
  • stenosis
  • Williams-Beuren syndrome
  • diverticular disease
  • hypertension
  • cardiac hypertrophy
  • laser induced choroidal neovascularization
regulated by
  • LDLR
  • lipopolysaccharide
  • resveratrol
  • dihydrotestosterone
  • elastolytic cathepsin
  • HRAS
  • ELANE
  • KL
  • dexamethasone
  • FGF2
regulates
role in cell
  • migration
  • proliferation
  • formation
  • adhesion
  • transmigration
  • organization
  • chemotaxis
  • orientation
  • polymerization
  • attachment

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
  • Endoplasmic Reticulum
  • peripheral vesicles
  • extracellular matrix
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Eln gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of actin filament polymerization
  • regulation of smooth muscle cell proliferation
  • aortic valve morphogenesis
  • skeletal muscle tissue development
  • outflow tract morphogenesis
  • blood circulation
  • extracellular matrix assembly
  • respiratory gaseous exchange
  • stress fiber assembly
  • organ morphogenesis

Cellular Component

Where in the cell the gene product is active
  • elastic fiber
  • extracellular matrix
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • extracellular matrix binding
  • protein binding
  • extracellular matrix constituent conferring elasticity
  • extracellular matrix structural constituent

Gene-Specific Assays for Results You Can Trust

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