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Aliases for SERPINI1 Gene

Aliases for SERPINI1 Gene

  • Serpin Family I Member 1 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade I (Neuroserpin), Member 1 2 3
  • Serpin Peptidase 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 Cell adhesion_Plasmin signaling and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINI2.

UniProtKB/Swiss-Prot for SERPINI1 Gene

  • Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376). 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 (Probable).

Gene Wiki entry for SERPINI1 Gene

Additional gene information for SERPINI1 Gene

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

Genomics for SERPINI1 Gene

GeneHancer (GH) Regulatory Elements for SERPINI1 Gene

Promoters and enhancers for SERPINI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I167732 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 559.9 -0.7 -737 4.7 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 SERPINI1 PDCD10 HMGN1P8
GH03I167773 Promoter 0.7 EPDnew 550.3 +38.7 38703 0.1 ZNF217 ATF7 EBF1 SERPINI1 PDCD10 LRRC77P
GH03I167691 Enhancer 0.8 ENCODE 17 -43.7 -43685 0.2 PKNOX1 BACH1 EBF1 BMI1 BATF IRF4 RELA POLR2A NFATC1 ZNF143 SERPINI1 PDCD10 ZBBX HMGN1P8 GC03P167665
GH03I167684 Enhancer 0.6 ENCODE 17.1 -50.7 -50655 0.2 CTCF ZNF654 CEBPB CEBPG ATF2 RAD21 ATF4 ATF3 CEBPA ZNF143 SERPINI1 WDR49 PDCD10 ZBBX HMGN1P8 GC03P167665
GH03I167749 Enhancer 0.8 Ensembl ENCODE 9.7 +15.4 15354 1.5 PKNOX1 JUNB CEBPG PAX8 ELF1 ATF2 IRF4 SP1 MITF MEF2D SERPINI1 PDCD10 LRRC77P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SERPINI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINI1 gene promoter:

Genomic Locations for SERPINI1 Gene

Genomic Locations for SERPINI1 Gene
chr3:167,735,243-167,825,569
(GRCh38/hg38)
Size:
90,327 bases
Orientation:
Plus strand
chr3:167,453,031-167,543,357
(GRCh37/hg19)

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:
    • Monomer. Has a tendency to form large polymers already at 41 and 45 degrees Celsius (in vitro).

    Three dimensional structures from OCA and Proteopedia for SERPINI1 Gene

neXtProt entry for SERPINI1 Gene

Post-translational modifications for SERPINI1 Gene

  • Glycosylation at isoforms=157, isoforms=321, and isoforms=401

Other Protein References for SERPINI1 Gene

No data available for DME Specific Peptides for SERPINI1 Gene

Domains & Families for SERPINI1 Gene

Gene Families for SERPINI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SERPINI1 Gene

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 (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376). 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 (Probable).

Phenotypes From GWAS Catalog for SERPINI1 Gene

Gene Ontology (GO) - Molecular Function for SERPINI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IDA 9442076
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINI1: view
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

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

Localization for SERPINI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINI1 Gene

Secreted. Cytoplasmic vesicle, secretory vesicle lumen. Perikaryon.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINI1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
cytosol 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SERPINI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IDA 17040209
GO:0031410 cytoplasmic vesicle IEA --
GO:0034774 secretory granule lumen IEA --
GO:0043025 neuronal cell body IEA,IDA 17040209
genes like me logo Genes that share ontologies with SERPINI1: view

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:0007422 peripheral nervous system development TAS 9070919
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0010976 positive regulation of neuron projection development IEA --
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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SERPINI1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SERPINI1 Gene:

SERPINI1

SOURCE GeneReport for Unigene cluster for SERPINI1 Gene:

Hs.478153

mRNA Expression by UniProt/SwissProt for SERPINI1 Gene:

Q99574-NEUS_HUMAN
Tissue specificity: Detected in brain cortex and hippocampus pyramidal neurons (at protein level) (PubMed:17040209). Predominantly expressed in the brain (PubMed:9070919).

Evidence on tissue expression from TISSUES for SERPINI1 Gene

  • Nervous system(4.9)
  • Eye(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINI1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SERPINI1: view

Primer 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 33 34
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia SERPINI1 33 34
  • 91.54 (n)
dog
(Canis familiaris)
Mammalia SERPINI1 33 34
  • 91.54 (n)
rat
(Rattus norvegicus)
Mammalia Serpini1 33
  • 85.93 (n)
mouse
(Mus musculus)
Mammalia Serpini1 33 16 34
  • 85.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINI1 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINI1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINI1 33 34
  • 77.72 (n)
lizard
(Anolis carolinensis)
Reptilia SERPINI1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpini1 33
  • 70.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8488 33
zebrafish
(Danio rerio)
Actinopterygii serpini1 33 34
  • 61.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spn42Da 33
  • 46.72 (n)
Spn4 35 34
  • 34 (a)
Spn6 35 34
  • 32 (a)
CG9455 35
  • 31 (a)
Spn1 35 34
  • 31 (a)
CG9460 35
  • 30 (a)
Spn2 34
  • 30 (a)
ManyToMany
Spn3 34
  • 30 (a)
ManyToMany
Spn43Aa 35 34
  • 29 (a)
Spn42Dc 34
  • 29 (a)
ManyToMany
Spn42De 34
  • 29 (a)
ManyToMany
Spn28Da 34
  • 27 (a)
ManyToMany
Spn42Db 34
  • 27 (a)
ManyToMany
CG6717 35
  • 26 (a)
Spn7 34
  • 26 (a)
ManyToMany
nec 35 34
  • 25 (a)
Spn28Db 34
  • 25 (a)
ManyToMany
Spn47C 34
  • 25 (a)
ManyToMany
Spn43Ab 34
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta SRPN10 33
  • 45.52 (n)
worm
(Caenorhabditis elegans)
Secernentea srp-6 35
  • 28 (a)
srp-7 35
  • 27 (a)
srp-1 35
  • 26 (a)
Species where no ortholog for SERPINI1 was found in the sources mined by GeneCards:
  • 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

Variants for SERPINI1 Gene

Sequence variations from dbSNP and Humsavar for SERPINI1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1038529380 uncertain-significance, Encephalopathy, familial, with neuroserpin inclusion bodies 167,735,819(+) G/A 5_prime_UTR_variant, intron_variant
rs1050515933 uncertain-significance, Encephalopathy, familial, with neuroserpin inclusion bodies 167,807,321(+) C/G coding_sequence_variant, missense_variant
rs1050971384 uncertain-significance, Encephalopathy, familial, with neuroserpin inclusion bodies 167,789,294(+) G/T coding_sequence_variant, missense_variant
rs113533056 benign, Encephalopathy, familial, with neuroserpin inclusion bodies 167,794,834(+) T/G intron_variant
rs11547811 likely-benign, Encephalopathy, familial, with neuroserpin inclusion bodies 167,789,336(+) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv592502 CNV loss 21841781
nsv475706 CNV novel sequence insertion 20440878
nsv460986 CNV loss 19166990
nsv4105 CNV insertion 18451855

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)

Additional Variant Information for SERPINI1 Gene

Human Gene Mutation Database (HGMD)
SERPINI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINI1

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

Disorders for SERPINI1 Gene

MalaCards: The human disease database

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

- 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, ECO:0000269 PubMed:11880376}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SERPINI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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: structure and time-dependent inhibition. (PMID: 19265707) Ricagno S … Bolognesi M (Journal of molecular biology 2009) 3 4 22 58
  2. The 2.1-A crystal structure of native neuroserpin reveals unique structural elements that contribute to conformational instability. (PMID: 19285087) Takehara S … Lomas DA (Journal of molecular biology 2009) 3 4 22 58
  3. Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women study. (PMID: 17961231) Cole JW … Kittner SJ (BMC neurology 2007) 3 22 44 58
  4. Identification of a novel targeting sequence for regulated secretion in the serine protease inhibitor neuroserpin. (PMID: 17040209) Ishigami S … Lawrence DA (The Biochemical journal 2007) 3 4 22 58
  5. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. (PMID: 11880376) Belorgey D … Lomas DA (The Journal of biological chemistry 2002) 3 4 22 58

Products for SERPINI1 Gene

Sources for SERPINI1 Gene

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