SERPINI1

Name

serpin family I member 1

Type

protein-coding

Position

167,735,065–167,828,461 (+)

Aliases

HNS-S1, HNS-S2, PI12, neuroserpin

Ensembl

ENSG00000163536

RefSeq RNA

NM_001122752.2, NM_005025.5, XM_017006618.3, XM_054346841.1

RefSeq protein

NP_001116224.1, NP_005016.1, XP_016862107.1, XP_054202816.1

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].

via MyGene.info

Gene · Ensembl

serpin family I member 1

Symbol

SERPINI1

Biotype

Protein coding

Organism

Homo sapiens

Location

3:167,735,065-167,828,461

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Image

Protein SERPINI1 PDB 1jjo.png

via Wikidata · CC0