Tbio ELN Elastin

Protein Summary

Description

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). This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]

Uniprot Accession IDs

• P15502
• B3KTS6
• O15336
• O15337
• Q14233
• Q14234
• Q14235
• Q14238
• Q6P0L4
• Q6ZWJ6
• Q75MU5
• Q7Z316
• Q7Z3F5
• Q9UMF5

Gene Name

• ELN

Ensembl ID

• ENST00000252034
• ENSP00000252034
• ENSG00000049540
• ENST00000320399
• ENSP00000313565
• ENST00000357036
• ENSP00000349540
• ENST00000358929
• ENSP00000351807
• ENST00000380553
• ENSP00000369926
• ENST00000380562
• ENSP00000369936
• ENST00000380575
• ENSP00000369949
• ENST00000380576
• ENSP00000369950
• ENST00000380584
• ENSP00000369958
• ENST00000429192
• ENSP00000391129

Symbol

• WS
• WBS
• SVAS
• ADCL1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.97
disease	0.8
phenotype	0.69
cell line	0.66
PubMedID	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 4516.61   (req: < 5)

Gene RIFs: 212   (req: <= 3)

Antibodies: 390   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 4516.61   (req: >= 5)

Gene RIFs: 212   (req: > 3)

Antibodies: 390   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0