Recombinant Human Neuroserpin (SERPINI1)

Uniprot Id

Q99574

Target Species

Human

Target Name

SERPINI1

Target Full Name

Neuroserpin

Target Function

Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. 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).

Target Involvement

Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)

Target Subcellular Location

Secreted. Cytoplasmic vesicle, secretory vesicle lumen. Perikaryon.

Target Protein Families

Serpin family

Target Tissue Specificity

Detected in brain cortex and hippocampus pyramidal neurons (at protein level). Predominantly expressed in the brain.

Target Synonyms

DKFZp781N13156; Neuroserpin; NEUS_HUMAN; Peptidase inhibitor 12; PI-12; PI12; Protease inhibitor 12 ; Serine or cysteine proteinase inhibitor clade I (neuroserpin) member 1; Serine or cysteine proteinase inhibitor clade I member 1; Serpin I1; Serpin peptidase inhibitor clade I (neuroserpin) member 1; SERPINI1

Target Background

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified.