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ELN (NM_001278914) - elastin

Elastin Isoform H Precursor

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of ELN protein. View all 13 isoforms
ELN: elastin isoform h precursor
Description:

This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017].

Strand
+
Chromosome
7
Protein
700 residues
All mutations
172
PTM sites
0
CDS
73,442,517 - 73,483,030
Transcription
73,442,118 - 73,484,236
98.71% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2006
UniProt
Ensembl