SERPINI1

Chr 3q26.1

serpin family I member 1

MANE:: ENST00000446050.7

OMIM: 602445 ↗NCBI: 5274 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SERPINI1 · Q99574

v62025-08-01

Predicted Aligned Error matrix for SERPINI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.1/ 100

Confident

410 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)15%
Low(50–70)6%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

familial encephalopathy with neuroserpin inclusion bodies
0.72
hypertensive disorder
0.50
progressive myoclonus epilepsy
0.37
cardiovascular disorder
0.34
connective tissue neoplasm
0.27
bone neoplasm
0.27
Abnormality of the nervous system
0.27
hereditary disease
0.19
Transient global amnesia
0.15
keratoconjunctivitis
0.11

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

Protein function (UniProt)

Neuroserpin

Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:11880376, PubMed:19265707, PubMed:19285087, PubMed:26329378, PubMed:9442076). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable)