ECM1

Chr 1q21.2

extracellular matrix protein 1

MANE:: ENST00000369047.9

OMIM: 602201 ↗NCBI: 1893 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ECM1 · Q16610

v62025-08-01

Predicted Aligned Error matrix for ECM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.9/ 100

Low

540 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)21%
Low(50–70)3%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lipoid proteinosis
0.78
hereditary disease
0.19
aortic aneurysm
0.17
osteoarthritis
0.16
multisite chronic pain
0.16
Hip pain
0.12
chronic musculoskeletal pain
0.12
autism
0.11
neoplasm
0.11
breast cancer
0.11

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

Protein function (UniProt)

Extracellular matrix protein 1

Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity