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
Protein-Protein network diagram for ELN

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

Selected references

External links

EPD
ORF Accession
NM_000501
CDS Accession
NP_000492
OMIM
130160
HPRD
00556
Ensembl
ELN
UniProt/Swiss-Prot
ELN_HUMAN
GeneCards
ELN
Entrez Gene
2006
GenAtlas
ELN
Internet
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