SERPING1

Chr 11q12.1

serpin family G member 1

Aliases:: C1IN, C1-INH, HAE1, HAE2, C1INH
MANE:: ENST00000278407.9

OMIM: 606860 ↗NCBI: 710 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SERPING1 · P05155

v62025-08-01

Predicted Aligned Error matrix for SERPING1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

500 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)7%
Low(50–70)1%
Very low(< 50)26%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary angioedema types I and II
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary angioedema with C1Inh deficiency
0.83
hereditary angioedema type 1
0.75
hereditary angioedema
0.73
angioedema
0.62
hereditary angioedema type 2
0.61
C1 inhibitor deficiency
0.61
hereditary disease
0.53
Bartholin gland disease
0.50
asthma
0.48
complement deficiency
0.46

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

Protein function (UniProt)

Plasma protease C1 inhibitor

Serine protease inhibitor, which acrs as a regulator of the classical complement pathway (PubMed:10946292, PubMed:11527969, PubMed:3458172, PubMed:6416294). Forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases (PubMed:10946292, PubMed:3458172, PubMed:6416294). May also regulate blood coagulation, fibrinolysis and the generation of kinins (PubMed:8495195). Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein (PubMed:8495195)