Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Serpini1provided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade I, member 1provided by MGI
Primary source: MGI:MGI:1194506
See related: Ensembl:ENSMUSG00000027834 AllianceGenome:MGI:1194506
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ns; PI12; PI-12; Spi17
Summary: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity and positive regulation of neuron projection development. Located in neuronal cell body and secretory granule lumen. Is expressed in several structures, including enteric nervous system; genitourinary system; intestine; retina; and telencephalon. Used to study familial encephalopathy with neuroserpin inclusion bodies. Human ortholog(s) of this gene implicated in familial encephalopathy with neuroserpin inclusion bodies. Orthologous to human SERPINI1 (serpin family I member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in frontal lobe adult (RPKM 50.2), cortex adult (RPKM 38.8) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 E3; 3 33.76 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (75464800..75549830)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (75557493..75642523)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compartmentalized Actions of the Plasminogen Activator Inhibitors, PAI-1 and Nsp, in Ischemic Stroke.
Title: Compartmentalized Actions of the Plasminogen Activator Inhibitors, PAI-1 and Nsp, in Ischemic Stroke.
The results of this identify neuroserpin as a modulator of synaptic plasticity, and point to a role for neuroserpin in learning and memory.
Title: The serine protease inhibitor neuroserpin is required for normal synaptic plasticity and regulates learning and social behavior.
the protective effect of neuroserpin maybe independent from its canonical interaction with a tissue-type plasminogen activator
Title: Retina Is Protected by Neuroserpin from Ischemic/Reperfusion-Induced Injury Independent of Tissue-Type Plasminogen Activator.
Brain metastatic cells from lung cancer and breast cancer express high levels of anti-plasminogen activator (PA) serpins, including neuroserpin and serpin B2, to prevent plasmin generation and its metastasis-suppressive effects.
Title: Serpins promote cancer cell survival and vascular co-option in brain metastasis.
Data indicate that the neuroprotective effect of neuroserpin is due to inhibition of plasmin-mediated excitotoxin-induced cell death and is independent of neuroserpin's ability to inhibit tissue plasminogen activator activity.
Title: Neuroserpin protects neurons from ischemia-induced plasmin-mediated cell death independently of tissue-type plasminogen activator inhibition.
Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice
Title: Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice.
the existence of an AMH-dependent signalling pathway in the brain leading to an overexpression of the serine-protease inhibitor, neuroserpin, and neuronal survival
Title: Anti-Mullerian-hormone-dependent regulation of the brain serine-protease inhibitor neuroserpin.
Neuroserpin reduces microglial activation and, therefore, plasminogen activator levels; it has a neuroprotective role after focal ischemic stroke.
Title: Neuroserpin, a neuroprotective factor in focal ischemic stroke.
Our results implicate neuroserpin in the regulation of emotional behavior through a mechanism that is at least in part independent of tissue type plasminogen activator activity
Title: Impaired explorative behavior and neophobia in genetically modified mice lacking or overexpressing the extracellular serine protease inhibitor neuroserpin.
neuroserpin levels appear to be carefully regulated by LRP and an unidentified cofactor, and this pathway may be critical for maintaining the balance between proteases and inhibitors
Title: The low density lipoprotein receptor-related protein modulates protease activity in the brain by mediating the cellular internalization of both neuroserpin and neuroserpin-tissue-type plasminogen activator complexes.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Markers

Serpini1 (e-PCR), detects polymorphism
- UniSTS:498278

AI837402 (e-PCR)
- UniSTS:178847

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle lumen	ISO Inferred from Sequence Orthology more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in secretory granule lumen	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neuroserpin

Names: peptidase inhibitor 12; protease inhibitor 17; serine protease inhibitor 17; serpin I1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001357514.1 → NP_001344443.1 neuroserpin isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC140430

Conserved Domains (1) summary

cd02048
Location:23 → 409

neuroserpin; Neuroserpin is a inhibitory member of the SERine Proteinase INhibitor (serpin) family that reacts preferentially with tissue-type plasminogen activator (tPA). It is located in neurons in regions of the brain where tPA is also found, suggesting that ...
NM_009250.3 → NP_033276.1 neuroserpin isoform 1 precursor

See identical proteins and their annotated locations for NP_033276.1

Status: VALIDATED

Source sequence(s)

AC140430, AK032152

Consensus CDS

CCDS17415.1

UniProtKB/Swiss-Prot

O35684, Q543F7, Q922U6

Related

ENSMUSP00000029423.9, ENSMUST00000029423.9

Conserved Domains (1) summary

cd02048
Location:23 → 410

neuroserpin; Neuroserpin is a inhibitory member of the SERine Proteinase INhibitor (serpin) family that reacts preferentially with tissue-type plasminogen activator (tPA). It is located in neurons in regions of the brain where tPA is also found, suggesting that ...