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FLASH GENE

Symbol

ELN

contributors: mct - updated : 22-09-2017

HGNC name	elastin
HGNC id	3327

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADCL1 cutis laxa autosomal dominant 1 (elastin reduced expression) SVAS supravalvular aortic stenosis WBS Williams Beuren syndrome
Location	7q11.23      Physical location : 73.442.426 - 73.484.234
Synonym name	Williams syndrome region
	tropoelastin
Synonym symbol(s)	ELS, FLJ43523, FLJ38671, WS

DNA

TYPE	functioning gene
STRUCTURE	42.14 kb     33 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   enhancer
text structure	a role for the 5' end of the first exon of the elastin gene in regulating strong transcriptional activity in elastogenic cells

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D7S672 - D7S653 - D7S489 - HIP1 - ELN - D7S1870 - D7S669 - D7S675 - qter
Text	see WBS1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000501 33 - 3480 NP_000492 62 724 - 2007 17227755 NM_001081752 30 - 3339 NP_001075221 58 677 - 2007 17227755 NM_001081753 31 - 3384 NP_001075222 59 692 - 2007 17227755 NM_001081754 32 - 3441 NP_001075223 61 711 - 2007 17227755 NM_001081755 32 - 3423 NP_001075224 - 705 - 2007 17227755 NM_001278939 34 - 3967 NP_001265868 - 786 - 2007 17227755 NM_001278915 33 - 3807 NP_001265844 - 730 - 2007 17227755 NM_001278912 32 - 3735 NP_001265841 - 706 - 2007 17227755 NM_001278916 29 - 3591 NP_001265845 - 658 - 2007 17227755 NM_001278913 29 - 3546 NP_001265842 - 643 - 2007 17227755 NM_001278914 31 - 3717 NP_001265843 - 700 - 2007 17227755

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly Cardiovascular heart       highly Digestive mouth tongue     highly Nervous brain       moderately Reproductive female system placenta     highly Respiratory lung       moderately   respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Lymphoid         Muscular smooth

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	postnatal, during third trimester of fetal development and early postnatal years

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	role of the Asp-72 site in stabilizing the N-terminal segment of ELN and the importance of this region in facilitating elastic fiber assembly
	elastic N-terminal coil region and a cell-interactive C-terminal foot region linked together by a highly exposed bridge region
	seven transmembrane segments
	C-terminus having sequences that define both cell and matrix interactions, and also plays a critical but unknown role in the assembly and crosslinking of tropoelastin during elastic fiber maturation , and critical role of the C-terminal region of tropoelastin in elastic fiber assembly, suggesting tissue-specific differences in the elastin assembly pathway

HOMOLOGY

interspecies

homolog to murine Eln

Homologene

FAMILY

elastin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix
	within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus, and in the large arteries

basic FUNCTION	major structural protein of tissues such as aorta and nuchal ligament
	stabilizing arterial structure by regulating
	though present in equal quantities in the old group, becomes dysfunctional with aging
	proliferation and organization of vascular smooth muscle
	involved with LIMK1 in the actin polymerization signaling pathway
	extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin
	having likely an an active role in vascular remodeling
	protein that provides the unusual properties of extensibility and elastic recoil to tissues
	is an extracellular matrix protein that assembles into elastic fibers that provide elasticity and strength to vertebrate tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding of ELN fragments to FBLN5 was directly proportional to their propensity to coacervate
	ability of FKBP10 to modulate the self-assembly of ELN is independent of its enzymatic activity to promote the cis-trans isomerization of proline residues in proteins

cell & other

REGULATION

Other

ELN expression level correlated with poly(A) tail length, suggesting that maintenance of poly(A) tail and deadenylation of ELN mRNA might be general mechanisms involved in the regulation of ELN expression

ASSOCIATED DISORDERS

corresponding disease(s)

ADCL1 , SVAS , WBS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     contributing to increased proliferation of fetal aortic smooth muscle cells and arterial stenoses (in WBS or SVAS) tumoral fusion       fused with PAX5 by t(7;9)(q11;p13) translocation in B-cell acute lymphoblastic leukemia (B-ALL) (Bousquet 2007) constitutional     --over   enhanced alveolar elastin expression in very severe in chronic obstructive pulmonary disease constitutional       loss of function causes vascular stiffening, a leading risk for hypertension and chronic kidney disease (CKD) constitutional       loss of function causes augmented AGT -induced vasoconstriction in part through a novel mechanism that facilitates contraction evoked by AGTR2 and altered G protein signaling

Susceptibility

to intracranial aneurysm (IA) to neovascular age-related macular degeneration (AMD)

Variant & Polymorphism SNP	3'-UTR G(+659)C SNP has the strongest association to intracranial aneurysm
	ELN variant INT20 1315T > C is implicated in the development of IA
	significant association was detected between the rs2301995 SNP and AMD

Candidate gene
Marker
Therapy target	FBLN5 and ELN are potential targets for the regeneration of elastic fibers

ANIMAL & CELL MODELS

murine Eln(-)(/)(-) aorta has a smaller unloaded diameter and thicker wall because of smooth muscle cell overproliferation and has greatly reduced compliance