SERPINI1 serpin family I member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINI1provided by HGNC
Official Full Name: serpin family I member 1provided by HGNC
Primary source: HGNC:HGNC:8943
See related: Ensembl:ENSG00000163536 MIM:602445; AllianceGenome:HGNC:8943
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PI12; HNS-S1; HNS-S2; neuroserpin
Summary: 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]
Expression: Biased expression in brain (RPKM 83.3), testis (RPKM 7.2) and 3 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3q26.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (167735721..167825569)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (170519576..170609466)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (167453509..167543357)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.
Title: Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.
Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role.
Title: Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role.
Contrasting conformational dynamics of beta-sheet A and helix F with implications in neuroserpin inhibition and aggregation.
Title: Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation.
Neuroserpin in Bipolar Disorder.
Title: Neuroserpin in Bipolar Disorder.
Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin.
Title: Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin.
Neuroserpin expression during human brain development and in adult brain revealed by immunohistochemistry and single cell RNA sequencing.
Title: Neuroserpin expression during human brain development and in adult brain revealed by immunohistochemistry and single cell RNA sequencing.
We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation.
Title: SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Data indicated that rs9853967 and rs11714980 polymorphisms in CCM3 and SERPINI1respectively could be associated with a protective role in cerebral cavernous malformations disease.
Title: CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
SERPINI1 is an important regulator of epithelial-mesenchymal transition in an orthotopic implantation model of colorectal cancer
Title: SERPINI1 regulates epithelial-mesenchymal transition in an orthotopic implantation model of colorectal cancer.
The thermal and chemical stability along with the polymerisation propensity of both Wild Type and Glu289Ala NS were characterized.
Title: The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial encephalopathy with neuroserpin inclusion bodies MedGen: C1858680 OMIM: 604218 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-N47859 (e-PCR)
- UniSTS:23912

SGC32223 (e-PCR)
- UniSTS:69252

RH118964 (e-PCR)
- UniSTS:138932

Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in peripheral nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

Go to the top of the page Help

Preferred Names: neuroserpin

Names: PI-12; peptidase inhibitor 12; serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1; serpin I1; serpin peptidase inhibitor clade I member 1; serpin peptidase inhibitor, clade I (neuroserpin), member 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_008217.1 RefSeqGene

Range

5078..94926

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001122752.2 → NP_001116224.1 neuroserpin precursor

See identical proteins and their annotated locations for NP_001116224.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.

Source sequence(s)

BC018043, BQ086144, DA359846, Z81326

Consensus CDS

CCDS3203.1

UniProtKB/Swiss-Prot

A8K217, D3DNP1, Q6AHZ4, Q99574

UniProtKB/TrEMBL

A0A0S2Z455

Related

ENSP00000397373.2, ENST00000446050.7

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 ...
NM_005025.5 → NP_005016.1 neuroserpin precursor

See identical proteins and their annotated locations for NP_005016.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AC079822, BQ086144, CR627434, DA270615

Consensus CDS

CCDS3203.1

UniProtKB/Swiss-Prot

A8K217, D3DNP1, Q6AHZ4, Q99574

UniProtKB/TrEMBL

A0A0S2Z455

Related

ENSP00000295777.5, ENST00000295777.9

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

167735721..167825569

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017006618.3 → XP_016862107.1 neuroserpin isoform X1

UniProtKB/Swiss-Prot

A8K217, D3DNP1, Q6AHZ4, Q99574

UniProtKB/TrEMBL

A0A0S2Z455

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 ...