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Aliases for SERPINI1 Gene

Aliases for SERPINI1 Gene

  • Serpin Family I Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade I (Neuroserpin), Member 1 2 3 5
  • 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
  • PI12 3 4
  • Serpin Peptidase Inhibitor Clade I Member 1 3
  • 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 Family I Member 1) is a Protein Coding gene. Diseases associated with SERPINI1 include encephalopathy, familial, with neuroserpin inclusion bodies and encephalopathy. Among its related pathways are Validated targets of C-MYC transcriptional activation and Cell adhesion_Plasmin signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINE2.

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

Promoters for SERPINI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SERPINI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINI1 Gene

Chromosome:
3
Start:
167,735,243 bp from pter
End:
167,825,569 bp from pter
Size:
90,327 bases
Orientation:
Plus strand

Genomic View for SERPINI1 Gene

Genes around SERPINI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 157, Asn 321, and Asn 401
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINI1 Gene

Antibody Products

No data available for DME Specific Peptides for SERPINI1 Gene

Domains & Families for SERPINI1 Gene

Gene Families for SERPINI1 Gene

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 :
  • Belongs to the serpin family.
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.
genes like me logo Genes that share phenotypes with SERPINI1: view

Human Phenotype Ontology for SERPINI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINI1 Gene

MGI Knock Outs for SERPINI1:

Animal Model Products

miRNA for SERPINI1 Gene

miRTarBase miRNAs that target SERPINI1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
endoplasmic reticulum 3
cytosol 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SERPINI1 Gene

Pathways & Interactions 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:0010951 negative regulation of endopeptidase activity TAS 9070919
genes like me logo Genes that share ontologies with SERPINI1: view

No data available for SIGNOR curated interactions for SERPINI1 Gene

Drugs & Compounds for SERPINI1 Gene

(2) Drugs for SERPINI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Inhibitory RNA 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) (x9.0), Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Cortex (x5.9), and Brain - Spinal cord (cervical c-1) (x4.8).

Protein differential expression in normal tissues from HIPED for SERPINI1 Gene

This gene is overexpressed in Vitreous humor (53.4) and Cerebrospinal fluid (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SERPINI1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for SERPINI1 Gene

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 36
  • 99 (a)
OneToOne
SERPINI1 35
  • 99.51 (n)
  • 99.27 (a)
cow
(Bos Taurus)
Mammalia SERPINI1 36
  • 91 (a)
OneToOne
SERPINI1 35
  • 91.54 (n)
  • 91.22 (a)
dog
(Canis familiaris)
Mammalia SERPINI1 35
  • 91.54 (n)
  • 92.68 (a)
SERPINI1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpini1 36
  • 86 (a)
OneToOne
Serpini1 16
Serpini1 35
  • 85.04 (n)
  • 86.34 (a)
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 36
  • 57 (a)
OneToOne
serpini1 35
  • 61.75 (n)
  • 59.5 (a)
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
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
Spn42Da 35
  • 46.72 (n)
  • 36.12 (a)
CG6717 37
  • 26 (a)
CG9455 37
  • 31 (a)
CG9460 37
  • 30 (a)
nec 37
  • 25 (a)
Spn1 37
  • 31 (a)
Spn4 37
  • 34 (a)
Spn43Aa 37
  • 29 (a)
Spn6 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-1 37
  • 26 (a)
srp-6 37
  • 28 (a)
srp-7 37
  • 27 (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

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
VAR_008520 Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)
VAR_008521 Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)
rs720958 -- 167,822,773(-) TTCTG(C/T)TTTTA intron-variant
rs1492027 -- 167,752,167(+) AGGGC(A/G)CCTCT intron-variant
rs1552746 -- 167,813,232(+) GATTA(C/T)TGCAA 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

Variation tolerance for SERPINI1 Gene

Residual Variation Intolerance Score: 70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.57; 72.24% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(9) MalaCards diseases for SERPINI1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
encephalopathy, familial, with neuroserpin inclusion bodies
  • familial encephalopathy with neuroserpin inclusion bodies
encephalopathy
  • brain diseases
alpha 1-antitrypsin deficiency
  • aat deficiency
dementia, familial british
  • dementia familial british
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
  • cemcox3
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SERPINI1

Genetic Association Database (GAD)
SERPINI1
Human Genome Epidemiology (HuGE) Navigator
SERPINI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINI1
genes like me logo Genes that share disorders with SERPINI1: view

No data available for Genatlas for SERPINI1 Gene

Publications for SERPINI1 Gene

  1. Human neuroserpin (PI12): cDNA cloning and chromosomal localization to 3q26. (PMID: 9070919) Schrimpf S.P. … Sonderegger P. (Genomics 1997) 3 4 23 67
  2. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3
  3. Plasminogen activator activity is inhibited while neuroserpin is up-regulated in the Alzheimer disease brain. (PMID: 19222708) Fabbro S. … Seeds N.W. (J. Neurochem. 2009) 3 23
  4. Human neuroserpin: structure and time-dependent inhibition. (PMID: 19265707) Ricagno S. … Bolognesi M. (J. Mol. Biol. 2009) 3 23
  5. Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response. (PMID: 19423713) Davies M.J. … Lomas D.A. (J. Biol. Chem. 2009) 3 23

Products for SERPINI1 Gene

Sources for SERPINI1 Gene

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