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FLASH GENE

Symbol

EMILIN1

contributors: mct - updated : 13-12-2022

HGNC name	elastin microfibril interfacer 1
HGNC id	19880

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DHMN10 neuronopathy, distal hereditary motor, type X VGTAO vasculopathy with generalized tortuosity, aneurysm and osteopenia
Location	2p23.3      Physical location : 27.301.434 - 27.309.263
Synonym name	TNF elastin microfibril interface located protein
	elastin microfibril interface located protein
Synonym symbol(s)	EMILIN, GP115, DKFZp586M121, EMI, HMN10

DNA

TYPE	functioning gene
SPECIAL FEATURE	overlapping, gene in gene
STRUCTURE	7.77 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

overlapping by its 3' end with the 5' end promoter of the ketokinase gene (KHK) )

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007046 8 - 3890 NP_008977 106.56 1016 - 2000 10625608

EXPRESSION

Type

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 Cardiovascular heart         Hearing/Equilibrium ear inner cochlea Corti   Homo sapiens Respiratory lung         Skin/Tegument skin         Urinary kidney nephron renal capsule glomerulus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Connective cartilage       Connective cartilage elastic

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal cysteine-rich EMI domain, with four heptad repeats
	a long segment with high probabilty for coiled-coil structure formation
	a short collagenous stalk
	eight potential N glycosylation sites
	a C-terminal gC1q domain
	C-terminal domain essential for the formation of trimers that finally assemble into large EMILIN multimers

conjugated

GlycoP

mono polymer

homomer , trimer

isoforms

Precursor

cysteine-rich sequence at the N terminus

HOMOLOGY

interspecies

homolog to murine Emilin1

Homologene

FAMILY

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm
text	extracellular matrix
	localizes to the interface between the fibrillin microfibril scaffold and the elastin core
	extracellular matrix glycoprotein

basic FUNCTION	involved in the process of elastin deposition
	may regulate elastogenesis and vascular cell maintenance by stabilizing molecular interactions between elastic fiber components and by endowing elastic fibers with specific cell adhesion properties
	may inhibit TGF-beta signaling by binding specifically to the proTGF-beta precursor and preventing its maturation by furin convertases in the extracellular space
	promoting cell movement
	activating ATR which is a crucial steph in the initiation of ATR-dependent signaling processes
	important roles in regulating blood pressure, homeostasis, cell adhesion and cell migration
	major stromal element determining human trophoblast invasion of the uterine wall
	glycoprotein of elastic tissues, involved in the regulation of the growth and in the maintenance of the integrity of lymphatic vessels, a fundamental requirement for efficient function
	local regulator of lymphangiogenesis
	implicated in maintaining blood pressure homeostasis via the N-terminal elastin microfibril interface domain and in trophoblast invasion of the uterine wall via the globular C1q (gC1q) domain
	negative regulator of the transforming growth factor-beta (TGF-beta) signaling, which is involved in blood pressure (BP) homeostasis
	neutrophil elastase cleaved EMILIN1 in three/four major fragments, causing the impairment of its anti-proliferative role
	potential involvement of EMILIN1, EMILIN2 in fibrillin-related skin disorders
	is associated with elastin in the extracellular matrix (ECM) of arteries, lymph vasculature, and other tissues
	EMILIN1 induces anti-tumor effects by up-regulating TSPAN9 expression in gastric cancer
	potential role of EMILIN1 in the pathogenesis of diseases affecting the peripheral nervous system
	EMILIN1, EMILIN2, and EMILIN3 are microfibril-associated glycoproteins known to modulate cell behaviour, growth factor activity, and ECM assembly
	role of EMILINs in dentinogenesis, pulp biology, and inflammation
	EMILIN1 has intrinsic tumor and metastasis suppressive-like properties reducing effective migration, cell viability, primary tumor growth, and metastasis
	EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis
	potential role in endochondral bone growth

CELLULAR PROCESS	protein
	cell organization/biogenesis
	cell migration & motility

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

molecular pathway linking CNGA3, its binding partner EMILIN1 and PDE6C, which is potentially replicated in cochlear outer hair cells, given stereociliary immunolocalizations of CNGA3, EMILIN1 and PDE6C

a component	EMILIN / multimerin / EMILIN 2
	homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher order polymers via intermolecular disulfide bonds

INTERACTION

DNA

RNA

small molecule

protein	associating with elastin into multimers
	EMILIN 2
	binding to elastin and fibulin-5
	novel ligand for keratinocyte ITGA9, suggesting prospective roles for this receptor-ligand pair in skin homeostasis
	EMILIN1 produced by vascular smooth muscle cells acts as a main regulator of resting Blood Pressure levels by controlling the myogenic response in resistance arteries through TGFB1
	peculiar activity of ELANE in disabling EMILIN1 suppressor function
	head-to-tail interaction between C-terminal and N-terminal domains of EMILIN1 and/or EMILIN2 but also by tail-to-tail interaction between gC1q domains
	EMILIN1 may attenuate the effects of EMILIN2 on platelet aggregation and thrombosis
	specific roles of EMILIN1 and TGFB1 in blood pressure regulation, their synergistic interaction, and in particular the role of TGFB1 (in conjunction with ECM proteins) in other disease states altering cardiovascular homeostasis
	EMILIN1 can synergistically boost the tumor suppressive effect of TSPAN9, which may be produced by promoting TSPAN9 expression
	EMILIN1 interacts directly with EFEMP2 (also known as fibulin-4) and is required for proper extracellular matrix (ECM) deposition of EFEMP2
	EMILIN1 not only assists in EFEMP2 and tropoelastin deposition onto the fibrillin microfibril (FMF) scaffold during elastogenesis, but also targets LOX via EFEMP2 to collagen fibers in order to establish critical collagen crosslinks

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DHMN10 , VGTAO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function caused dermal and epidermal hyperproliferation and accelerated wound closure

Susceptibility

to essential hypertension

Variant & Polymorphism other	frequency of the G-G-T haplotype (established by rs2536512, rs2016116, rs17881426) was significantly higher in essential hypertension

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive stomach membrane proteins TSPAN9 and EMILIN1 may represent novel therapeutic targets for the treatment of gastric cancer

ANIMAL & CELL MODELS

	Homozygous animals for disrupted emilin1 gene were fertile and showed no obvious abnormalities; however, histologic and ultrastructural examination revealed alterations of the elastic fibers in aorta and skin
	Emilin1 knockout animals display increased blood pressure, increased peripheral vascular resistance, and reduced vessel size
	Genetic ablation of Emilin1 in mice causes elastic fiber defects in aorta and skin resulting in vascular abnormalities such as increased blood pressure, increased peripheral vascular resistance, and reduced vessel size
	genetic ablation of Emilin1 in mice causes elastic fiber defects in aorta and skin resulting in vascular abnormalities such as increased blood pressure, increased peripheral vascular resistance, and reduced vessel size