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

Gene ID: 5274, updated on 8-Dec-2018

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
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; 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

Genomic context

See SERPINI1 in Genome Data Viewer
Location:
3q26.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (167735644..167825569)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (167453432..167543357)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 49 Neighboring gene programmed cell death 10 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 8 Neighboring gene mediator of cell motility 1 pseudogene 3 Neighboring gene leucine rich repeat containing 77, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Encephalopathy, familial, with neuroserpin inclusion bodies
MedGen: C1858680 OMIM: 604218 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781N13156

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peripheral nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle lumen IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
secretory granule lumen IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_008217.1 RefSeqGene

    Range
    5080..94926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122752.1NP_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
    Q99574
    UniProtKB/TrEMBL
    A0A0S2Z455
    Related
    ENSP00000397373.2, ENST00000446050.6
    Conserved Domains (1) summary
    cd02048
    Location:23410
    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 ...
  2. NM_005025.4NP_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
    Q99574
    UniProtKB/TrEMBL
    A0A0S2Z455
    Related
    ENSP00000295777.5, ENST00000295777.9
    Conserved Domains (1) summary
    cd02048
    Location:23410
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    167735644..167825569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006618.2XP_016862107.1  neuroserpin isoform X1

    UniProtKB/Swiss-Prot
    Q99574
    UniProtKB/TrEMBL
    A0A0S2Z455
    Conserved Domains (1) summary
    cd02048
    Location:23410
    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 ...
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