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Aliases for SERPINI1 Gene

Aliases for SERPINI1 Gene

  • Serpin Peptidase Inhibitor, Clade I (Neuroserpin), Member 1 2 3
  • PI12 3 4 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade I (Neuroserpin), Member 1 2 3
  • Peptidase Inhibitor 12 3 4
  • Serpin I1 3 4
  • PI-12 3 4
  • Neuroserpin 3

External Ids for SERPINI1 Gene

Previous HGNC Symbols for SERPINI1 Gene

  • PI12

Previous GeneCards Identifiers for SERPINI1 Gene

  • GC03P164743
  • GC03P168506
  • GC03P168855
  • GC03P168774
  • GC03P168936
  • GC03P167453

Summaries for SERPINI1 Gene

Entrez Gene Summary for SERPINI1 Gene

  • 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]

GeneCards Summary for SERPINI1 Gene

SERPINI1 (Serpin Peptidase Inhibitor, Clade I (Neuroserpin), Member 1) is a Protein Coding gene. Diseases associated with SERPINI1 include encephalopathy, familial, with neuroserpin inclusion bodies and dementia, familial british. Among its related pathways are Cell adhesion_Plasmin signaling and Validated targets of C-MYC transcriptional activation. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB12.

UniProtKB/Swiss-Prot for SERPINI1 Gene

  • Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator

Gene Wiki entry for SERPINI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINI1 Gene

Genomics for SERPINI1 Gene

Regulatory Elements for SERPINI1 Gene

Genomic Location for SERPINI1 Gene

Start:
167,735,229 bp from pter
End:
167,825,569 bp from pter
Size:
90,341 bases
Orientation:
Plus strand

Genomic View for SERPINI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPINI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINI1 Gene

Proteins for SERPINI1 Gene

  • Protein details for SERPINI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99574-NEUS_HUMAN
    Recommended name:
    Neuroserpin
    Protein Accession:
    Q99574
    Secondary Accessions:
    • A8K217
    • D3DNP1
    • Q6AHZ4

    Protein attributes for SERPINI1 Gene

    Size:
    410 amino acids
    Molecular mass:
    46427 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SERPINI1 Gene

neXtProt entry for SERPINI1 Gene

Proteomics data for SERPINI1 Gene at MOPED

Post-translational modifications for SERPINI1 Gene

  • Glycosylation at Asn157, Asn321, and Asn401
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINI1 Gene

Antibody Products

No data available for DME Specific Peptides for SERPINI1 Gene

Domains for SERPINI1 Gene

Gene Families for SERPINI1 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINI1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99574

UniProtKB/Swiss-Prot:

NEUS_HUMAN :
  • Q99574
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINI1: view

Function for SERPINI1 Gene

Molecular function for SERPINI1 Gene

UniProtKB/Swiss-Prot Function: Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator

Gene Ontology (GO) - Molecular Function for SERPINI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINI1: view

Phenotypes for SERPINI1 Gene

MGI mutant phenotypes for SERPINI1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SERPINI1: view

Animal Models for SERPINI1 Gene

MGI Knock Outs for SERPINI1:

Animal Model Products

CRISPR Products

miRNA for SERPINI1 Gene

miRTarBase miRNAs that target SERPINI1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SERPINI1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SERPINI1 Gene

Localization for SERPINI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINI1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINI1 Gene COMPARTMENTS Subcellular localization image for SERPINI1 gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SERPINI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SERPINI1: view

Pathways for SERPINI1 Gene

genes like me logo Genes that share pathways with SERPINI1: view

Pathways by source for SERPINI1 Gene

1 BioSystems pathway for SERPINI1 Gene
1 GeneGo (Thomson Reuters) pathway for SERPINI1 Gene

Gene Ontology (GO) - Biological Process for SERPINI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development TAS 9070919
GO:0007422 peripheral nervous system development TAS 9070919
GO:0008219 cell death --
GO:0010951 negative regulation of endopeptidase activity IBA --
GO:0030155 regulation of cell adhesion IEA --
genes like me logo Genes that share ontologies with SERPINI1: view

Compounds for SERPINI1 Gene

(2) Novoseek inferred chemical compound relationships for SERPINI1 Gene

Compound -log(P) Hits PubMed IDs
serine 70.7 15
calcium 0 2
genes like me logo Genes that share compounds with SERPINI1: view

Transcripts for SERPINI1 Gene

Unigene Clusters for SERPINI1 Gene

Serpin peptidase inhibitor, clade I (neuroserpin), member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SERPINI1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINI1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2: - -
SP3: - - - -
SP4:

Relevant External Links for SERPINI1 Gene

GeneLoc Exon Structure for
SERPINI1
ECgene alternative splicing isoforms for
SERPINI1

Expression for SERPINI1 Gene

mRNA expression in normal human tissues for SERPINI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINI1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (9.0), Brain - Anterior cingulate cortex (BA24) (8.3), Brain - Cortex (5.9), and Brain - Spinal cord (cervical c-1) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINI1 Gene

SOURCE GeneReport for Unigene cluster for SERPINI1 Gene Hs.478153

mRNA Expression by UniProt/SwissProt for SERPINI1 Gene

Q99574-NEUS_HUMAN
Tissue specificity: Predominantly expressed in the brain
genes like me logo Genes that share expressions with SERPINI1: view

In Situ Assay Products

Orthologs for SERPINI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINI1 35
  • 99.51 (n)
  • 99.27 (a)
SERPINI1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINI1 35
  • 91.54 (n)
  • 91.22 (a)
SERPINI1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINI1 35
  • 91.54 (n)
  • 92.68 (a)
SERPINI1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpini1 35
  • 85.04 (n)
  • 86.34 (a)
Serpini1 16
Serpini1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINI1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINI1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpini1 35
  • 85.93 (n)
  • 87.8 (a)
chicken
(Gallus gallus)
Aves SERPINI1 35
  • 77.72 (n)
  • 80.24 (a)
SERPINI1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINI1 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8488 35
tropical clawed frog
(Silurana tropicalis)
Amphibia serpini1 35
  • 70.57 (n)
  • 71.22 (a)
zebrafish
(Danio rerio)
Actinopterygii serpini1 35
  • 61.75 (n)
  • 59.5 (a)
serpini1 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta SRPN10 35
  • 45.52 (n)
  • 32.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta nec 36
  • 20 (a)
ManyToMany
Spn1 36
  • 32 (a)
ManyToMany
Spn2 36
  • 30 (a)
ManyToMany
Spn28Da 36
  • 27 (a)
ManyToMany
Spn28Db 36
  • 25 (a)
ManyToMany
Spn3 36
  • 30 (a)
ManyToMany
Spn4 36
  • 31 (a)
ManyToMany
Spn42Da 35
  • 46.72 (n)
  • 36.12 (a)
Spn42Db 36
  • 27 (a)
ManyToMany
Spn42Dc 36
  • 29 (a)
ManyToMany
Spn42De 36
  • 29 (a)
ManyToMany
Spn43Aa 36
  • 27 (a)
ManyToMany
Spn43Ab 36
  • 24 (a)
ManyToMany
Spn47C 36
  • 25 (a)
ManyToMany
Spn6 36
  • 31 (a)
ManyToMany
Spn7 36
  • 26 (a)
ManyToMany
Spn43Aa 37
  • 29 (a)
CG9455 37
  • 31 (a)
CG9460 37
  • 30 (a)
Spn1 37
  • 31 (a)
nec 37
  • 25 (a)
CG6717 37
  • 26 (a)
Spn6 37
  • 32 (a)
Spn4 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-7 37
  • 27 (a)
srp-1 37
  • 26 (a)
srp-6 37
  • 28 (a)
Species with no ortholog for SERPINI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINI1 Gene

ENSEMBL:
Gene Tree for SERPINI1 (if available)
TreeFam:
Gene Tree for SERPINI1 (if available)

Paralogs for SERPINI1 Gene

genes like me logo Genes that share paralogs with SERPINI1: view

Variants for SERPINI1 Gene

Sequence variations from dbSNP and Humsavar for SERPINI1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs717877 -- 167,819,710(-) AAGCA(C/T)ATAAT intron-variant
rs720958 -- 167,822,773(-) TTCTG(C/T)TTTTA intron-variant
rs1032382 -- 167,743,254(+) GAAAA(C/T)GGTGT intron-variant
rs1178799 -- 167,793,891(-) GTGCT(C/T)TATGA intron-variant
rs1473511 -- 167,782,975(-) ACAGC(A/C)TTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINI1 Gene

Variant ID Type Subtype PubMed ID
nsv4105 CNV Insertion 18451855
nsv483122 CNV Loss 15286789
nsv460986 CNV Loss 19166990

Relevant External Links for SERPINI1 Gene

HapMap Linkage Disequilibrium report
SERPINI1
Human Gene Mutation Database (HGMD)
SERPINI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINI1 Gene

Disorders for SERPINI1 Gene

(1) OMIM Diseases for SERPINI1 Gene (602445)

UniProtKB/Swiss-Prot

NEUS_HUMAN
  • Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]: A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. {ECO:0000269 PubMed:10517635}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(18) Novoseek inferred disease relationships for SERPINI1 Gene

Disease -log(P) Hits PubMed IDs
fenib 98.7 27
familial dementia 96.5 14
dementia, familial british 79.4 1
encephalopathy 76.7 33
dementia 65.4 23

Relevant External Links for SERPINI1

Genetic Association Database (GAD)
SERPINI1
Human Genome Epidemiology (HuGE) Navigator
SERPINI1
genes like me logo Genes that share disorders with SERPINI1: view

Publications for SERPINI1 Gene

  1. Familial dementia caused by polymerization of mutant neuroserpin. (PMID: 10517635) Davis R.L. … Lomas D.A. (Nature 1999) 3 4 23
  2. Human neuroserpin (PI12): cDNA cloning and chromosomal localization to 3q26. (PMID: 9070919) Schrimpf S.P. … Sonderegger P. (Genomics 1997) 3 4 23
  3. Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women study. (PMID: 17961231) Cole J.W. … Kittner S.J. (BMC Neurol 2007) 3 23 48
  4. A study of the oxidation-induced conformational and functional changes in neuroserpin. (PMID: 18051703) Mohsenifar A. … Hasannia S. (Iran. Biomed. J. 2007) 3 23
  5. Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep. (PMID: 18591508) Coutelier M. … Godfraind C. (Neurology 2008) 3 23

Products for SERPINI1 Gene

Sources for SERPINI1 Gene

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