Elastin

ELN
Identifiers
Aliases	ELN, SVAS, WBS, WS, elastin, ADCL1
External IDs	OMIM: 130160; MGI: 95317; GeneCards: ELN; OMA:ELN - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	74,069,907 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	134,776,177 bp
RNA expression pattern
	Top expressed in
	ascending aorta; ; right coronary artery; ; right lung; ; popliteal artery; ; gastric mucosa; ; left coronary artery; ; upper lobe of left lung; ; gallbladder; ; canal of the cervix; ; left uterine tube;
	Top expressed in
	ascending aorta; ; aortic valve; ; left lung lobe; ; external carotid artery; ; internal carotid artery; ; optic nerve; ; belly cord; ; atrioventricular valve; ; carotid body; ; tracheobronchial tree;
	More reference expression data
	n/a
Gene ontology
Molecular function	extracellular matrix structural constituent; protein binding; extracellular matrix constituent conferring elasticity; extracellular matrix binding;
Cellular component	extracellular region; elastic fiber; extracellular matrix; collagen-containing extracellular matrix;
Biological process	animal organ morphogenesis; cell population proliferation; extracellular matrix disassembly; extracellular matrix organization; blood circulation; respiratory gaseous exchange by respiratory system; outflow tract morphogenesis; aortic valve morphogenesis; skeletal muscle tissue development; regulation of actin filament polymerization; stress fiber assembly; regulation of smooth muscle cell proliferation;
	Sources:Amigo / QuickGO
Orthologs
	2006
	13717
	ENSG00000049540
	ENSMUSG00000029675
	P15502
	P54320
NM_000501; NM_001081752; NM_001081753; NM_001081754; NM_001081755;
	NM_001278912; NM_001278913; NM_001278914; NM_001278915; NM_001278916; NM_001278917; NM_001278918; NM_001278939
	NM_007925
NP_000492; NP_001075221; NP_001075222; NP_001075223; NP_001075224;
	NP_001265841; NP_001265842; NP_001265843; NP_001265844; NP_001265845; NP_001265846; NP_001265847; NP_001265868
	NP_031951
	Wikidata
View/Edit Human	View/Edit Mouse

Elastin is a protein that in humans is encoded by the ELN gene. Elastin is a key component of the extracellular matrix in gnathostomes (jawed vertebrates).^[5] It is highly elastic and present in connective tissue allowing many tissues in the body to resume their shape after stretching or contracting.^[6] Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing tissue in the bodies of vertebrates and used in places where mechanical energy is required to be stored.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000049540 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029675 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mithieux SM, Weiss AS (2005). "Elastin". Advances in Protein Chemistry. 70: 437–461. doi:10.1016/S0065-3233(05)70013-9. ISBN 9780120342709. PMID 15837523.
^ Vindin H, Mithieux SM, Weiss AS (November 2019). "Elastin architecture". Matrix Biology. 84: 4–16. doi:10.1016/j.matbio.2019.07.005. PMID 31301399. S2CID 196458819.
^ Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (April 1993). "The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis". Cell. 73 (1): 159–168. doi:10.1016/0092-8674(93)90168-P. PMID 8096434. S2CID 8274849.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000049540 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029675 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Mithieux-5] Mithieux SM, Weiss AS (2005). "Elastin". Advances in Protein Chemistry. 70: 437–461. doi:10.1016/S0065-3233(05)70013-9. ISBN 9780120342709. PMID 15837523.

[:Vindin-6] Vindin H, Mithieux SM, Weiss AS (November 2019). "Elastin architecture". Matrix Biology. 84: 4–16. doi:10.1016/j.matbio.2019.07.005. PMID 31301399. S2CID 196458819.

[pmid8096434-7] Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT (April 1993). "The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis". Cell. 73 (1): 159–168. doi:10.1016/0092-8674(93)90168-P. PMID 8096434. S2CID 8274849.

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Elastin

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