SERPINC1

Chr 1q25.1

serpin family C member 1

Aliases:: ATIII, MGC22579
MANE:: ENST00000367698.4

OMIM: 107300 ↗NCBI: 462 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SERPINC1 · P01008

v62025-08-01

Predicted Aligned Error matrix for SERPINC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.7/ 100

Confident

464 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)15%
Low(50–70)4%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Inherited bleeding disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Thrombophilia with a likely monogenic cause
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary antithrombin deficiency
0.85
Reduced antithrombin III activity
0.79
Venous thrombosis
0.68
venous thromboembolism
0.66
deep vein thrombosis
0.66
blood coagulation disease
0.65
pulmonary embolism
0.60
atrial fibrillation
0.60
myocardial infarction
0.60
Recurrent thrombophlebitis
0.56

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

Protein function (UniProt)

Antithrombin-III

Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibitory activity is greatly enhanced in the presence of heparin

Curated MONDO disease pages that list SERPINC1 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SERPINC1