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elastin; tropoelastin (ELN)

Function: - elastic protein in connective tissue - allows many tissues in the body to resume their shape after stretching or contracting - helps skin to return to its original position when displaced - role in load-bearing tissue where mechanical energy is stored (tendons) - forms a ternary complex with BGN & MFAP2 - interacts with MFAP2 via divalent cations (Ca+2 > Mg+2 > Mn+2) dose-dependent & saturatable Structure: - primarily composed of Gly, Val, Ala, & Pro - made by linking many soluble tropoelastins, in a reaction catalyzed by lysyl oxidase, to make a massive insoluble, durable cross-linked array - cross-linking is via Lys - most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, & isodesmosine - hydroxylation on proline residues within the sequence motif, GXPG Compartment: extracellular matrix Alternative splicing: named isoforms=13 Expression: - arteries, especially large elastic blood vessels (aorta) - lungs, elastic ligaments, skin, bladder, & elastic cartilage Pathology: - defects in ELN are the cause of a) cutis laxa, autosomal dominant, type 1 b) supravalvular aortic stenosis - haploinsufficiency of ELN may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in Williams-Beuren syndrome Genetics: - the elastin gene is located in the Williams-Beuren syndrome critical region

Related

elastase elastin receptor (ELNR1)

Specific

tropoelastin

General

matrix protein

Properties

SIZE: entity length = 786 aa MW = 68 kD COMPARTMENT: extracellular matrix MOTIF: signal sequence {1-26} alanine-rich region {97-102} MOTIF: alanine residue (SEVERAL) alanine-rich region {236-742} MOTIF: alanine residue (SEVERAL) cysteine residue {C776} MODIFICATION: cysteine residue {C781} cysteine residue {C781} MODIFICATION: cysteine residue {C776}

Database Correlations

OMIM correlations UniProt P15502 Entrez Gene 2006 Kegg hsa:2006

References

  1. Wikipedia - elastin entry http://en.wikipedia.org/wiki/Elastin
  2. UniProt :accession P15502
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ELN