EMILIN1

Chr 2p23.3

elastin microfibril interfacer 1

Aliases:: DKFZp586M121, gp115, EMILIN
MANE:: ENST00000380320.9

OMIM: 130660 ↗NCBI: 11117 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EMILIN1 · Q9Y6C2

v62025-08-01

Predicted Aligned Error matrix for EMILIN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.9/ 100

Low

1,016 residues

Confidence breakdown

Very high(≥ 90)6%
Confident(70–90)35%
Low(50–70)29%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection
Thoracic aortic aneurysm or dissection (GMS)

Disease associations (Open Targets)

arterial tortuosity-bone fragility syndrome
0.62
neuronopathy, distal hereditary motor, autosomal dominant 10
0.59
Arterial tortuosity
0.49
EMILIN-1-related connective tissue disease
0.37
cornea transplantation
0.20
hereditary disease
0.19
prostate cancer
0.11
Familial prostate cancer
0.11
alcohol drinking
0.10
neoplasm
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

EMILIN-1

Involved in elastic and collagen fibers formation. It is required for EFEMP2 deposition into the extracellular matrix, and collagen network assembly and cross-linking via protein-lysine 6-oxidase/LOX activity (PubMed:36351433). May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved in the processes that regulate vessel assembly. Has cell adhesive capacity