SERPINI1

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. [provided by RefSeq, Jul 2008]

Description

Serpin family I member 1

Tissue specificity

Tissue enhanced (brain, choroid plexus)

Subcell location

Cytosol

Predicted location

Intracellular, Secreted in brain

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (167735243 - 167825569)

Ensembl ID

ENSG00000163536  (ver. 103.38)

Orthologs

Mouse Serpini1: ENSMUSG00000027834

UniProt

Q99574

neXtProt

NX_Q99574

Human splice variants
Mouse splice variants

Protein structure