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

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
UniGene
647061
GenAtlas
ELN
Internet
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