GenAge entry for ELN (Homo sapiens)

Gene name (HAGRID: 230)

HGNC symbol: ELN
Aliases: WBS; WS; SVAS
Common name: elastin

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on evidence linking the gene or its product to human longevity and/or multiple age-related phenotypes
Description: ELN is structural protein that may be related to arterial morphogenesis. Mice without ELN die of obstructive arterial disease [1651]. In humans, mutations in ELN have been associated with vascular disease [1655]. Large deletions resulting in hemizygosity of the elastin gene cause Williams-Beuren syndrome [1665], which has been suggested to resemble accelerated ageing [1422]. ELN also plays a role in skin ageing [3333]. Therefore, ELN has been associated with various ageing changes.

Cytogenetic information

Cytogenetic band: 7q11.23
Location: 74,027,789 bp to 74,069,906 bp
Orientation: Plus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0007585; respiratory gaseous exchange
GO:0008015; blood circulation
GO:0008283; cell proliferation
GO:0009887; animal organ morphogenesis
GO:0022617; extracellular matrix disassembly
GO:0030198; extracellular matrix organization

Cellular component:

GO:0005576; extracellular region
GO:0005578; proteinaceous extracellular matrix
GO:0071953; elastic fiber

Function:

GO:0005201; extracellular matrix structural constituent
GO:0005515; protein binding

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: CLU
STRING interaction network

Retrieve sequences for ELN

ORF: ORF
CDS: CDS

Homologs in model organisms

Mus musculus: Eln
Rattus norvegicus: Eln

In other databases

GenAge microarray genes

This gene is present as ELN