InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ELN

Summary

InnateDB Protein

IDBP-20563.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ELN

Protein Name

elastin

Synonyms

SVAS; WBS; WS;

Species

Homo sapiens

Ensembl Protein

ENSP00000369950

InnateDB Gene

IDBG-20555 (ELN)

Protein Structure

UniProt Annotation

Function

Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity). {ECO:0000250}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.

Disease Associations

Cutis laxa, autosomal dominant, 1 (ADCL1) [MIM:123700]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. {ECO:0000269PubMed:9873040}. Note=The disease is caused by mutations affecting the gene represented in this entry.Supravalvular aortic stenosis (SVAS) [MIM:185500]: Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. {ECO:0000269PubMed:10942104}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Tissue Specificity

Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin. {ECO:0000269PubMed:8812460}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding

Biological Process

GO:0007585	respiratory gaseous exchange
GO:0008015	blood circulation
GO:0008283	cell proliferation
GO:0009887	organ morphogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization