Protein detail

ELN

Elastin (Tropoelastin)

Entry name ELN	UniProt ID P15502	EVMP confidence score 0.53
Supporting publications (n) 1	Transmembrane count	Protein classification Disease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted secreted proteins

Basic Information

Protein Names

Elastin (Tropoelastin)

Protein Class (5)

Disease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted secreted proteins

Protein Function (6)

Human disease related genes:Other congenital disorders:Chromosomal abnormalities
Predicted intracellular proteins
Human disease related genes:Congenital malformations:Congenital malformations of the circulatory system
Predicted secreted proteins
Human disease related genes:Congenital malformations:Congenital malformations of skin
Disease related genes

Ensembl

ENSG00000049540

Entrez Gene Symbol

ELN

Gene Synonym (3)

SVASWBSWS

Gene Description

Elastin

Chromosome

Position

74027789-74069907

Supporting publications (n)

EVMP confidence score

0.53

Fluorescence & Localization

Tissue SpecificbrainCell SpecificSchwann cells

Function & Pathway

Protein Function (6)

Human disease related genes:Other congenital disorders:Chromosomal abnormalities
Predicted intracellular proteins
Human disease related genes:Congenital malformations:Congenital malformations of the circulatory system
Predicted secreted proteins
Human disease related genes:Congenital malformations:Congenital malformations of skin
Disease related genes

Cellular Component (4)

Molecular Function (4)

Biological Process (3)

KEGG (2)

Reactome (4)

Canonical Pathways

M17 Pid notch pathway

Mediation Categories

Fusion and delivery mediation

Relations & Evidence22

Ligand-Receptor Signaling (17)

17 records.

Category	Parent	Database	Transmitter	Secreted
ecm	ecm	MatrixDB	Yes	Yes
ecm	ecm	GO_Intercell	Yes	Yes
ecm	ecm	Ramilowski_location	Yes	Yes
ecm	ecm	UniProt_location	Yes	Yes
ecm	ecm	CellCellInteractions	Yes	Yes
ecm	ecm	OmniPath	Yes	Yes
extracellular	extracellular	LOCATE		Yes
extracellular	extracellular	OmniPath		Yes
intracellular	intracellular	ComPPI		Yes
intracellular	intracellular	OmniPath		Yes

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Regulatory Interaction Network (2)

2 records.

Source Protein Symbol	Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
FBLN5	Q9UBX5	ELN	P15502	Yes	Yes		Lit-BM-17SIGNORIntAct	Lit-BM-17:19570982 SIGNOR:19570982 SIGNOR:18267938 IntAct:19570982
FBLN4	O95967	ELN	P15502	Yes	Yes		WangLit-BM-17SIGNORIntAct	Lit-BM-17:19570982 SIGNOR:19570982 IntAct:19570982

Protein Complex Composition (2)

2 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
HT_DM_Cluster422	CSNK1G1 CSNK1G2 CSNK1G3 ELN	P15502 P78368 Q9HCP0 Q9Y6M4	1:1:1:1	Compleat	Compleat:HC1600	22036573
Reelin complex	RELN	P78509	2	ComplexPortal	intact:EBI-21476058	27303268 21844191 10939329 14755292 28265585 10612399 28588454 10880573 10571240

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential Ultracentrifugation	Flow cytometry	1	27821849

Sequence, Structure & Domains

Sequences

Length

786

Mass

68,398

Sequence

MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGVPGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKACGRKRK

Alternative Products

Event=Alternative splicing; Named isoforms=13; Comment=Additional isoforms seem to exist.; Name=3; IsoId=P15502-3; Sequence=Displayed; Name=1; IsoId=P15502-1; Sequence=VSP_012484, VSP_012485, VSP_012487; Name=2; IsoId=P15502-2; Sequence=VSP_012484, VSP_012487; Name=4; IsoId=P15502-4; Sequence=VSP_012484; Name=5; IsoId=P15502-5; Sequence=VSP_012481, VSP_012484, VSP_012487, VSP_012488; Name=6; IsoId=P15502-6; Sequence=VSP_012483, VSP_012487, VSP_012488; Name=7; IsoId=P15502-7; Sequence=VSP_012479, VSP_012483, VSP_012487, VSP_012488; Name=8; IsoId=P15502-8; Sequence=VSP_012482, VSP_012483, VSP_012486, VSP_012487, VSP_012488; Name=9; IsoId=P15502-9; Sequence=VSP_012485; Name=10; IsoId=P15502-10; Sequence=VSP_012485, VSP_012487; Name=11; IsoId=P15502-11; Sequence=VSP_012480, VSP_012482, VSP_012483, VSP_012487, VSP_012488; Name=12; IsoId=P15502-12; Sequence=VSP_012481, VSP_012483, VSP_012487, VSP_012488; Name=13; IsoId=P15502-13; Sequence=VSP_012483, VSP_012487

Alternative Sequence

45..54; Missing (in isoform 7); 78..180; Missing (in isoform 11); 125; A -> AAPSVP (in isoform 5 and isoform 12); 215..228; Missing (in isoform 8 and isoform 11); 453..500; Missing (in isoform 6, isoform 7, isoform 8, isoform 11, isoform 12 and isoform 13); 453..481; Missing (in isoform 1, isoform 2, isoform 4 and isoform 5); 500; F -> FALLNLA (in isoform 1, isoform 9 and isoform 10); 555..570; AAAKSAAKVAAKAQLR -> G (in isoform 8); 612..644; Missing (in isoform 1, isoform 2, isoform 5, isoform 6, isoform 7, isoform 8, isoform 10, isoform 11, isoform 12 and isoform 13); 740..757; Missing (in isoform 5, isoform 6, isoform 7, isoform 8, isoform 11 and isoform 12)

Domain & Motif Annotations

Compositional Bias

630..645; Low complexity

Region

615..645; Disordered

Protein Families

Elastin family

Sequence Similarities

Belongs to the elastin family.

Clinical Relevance

Disease Involvement

Williams-Beuren syndrome

Related Diseases

Williams-Beuren syndrome

Drugs (3)

DCLK1-IN-1 XMD8-92 VONAPANITASE

Antibody (3)

CAB010750 HPA018111 HPA056941

Supporting Publications1

PMID	Title	Related sentences
32384937	Alzheimer's disease progression characterized by alterations in the molecular profiles and biogenesis of brain extracellular vesicles.	No related sentences available