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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SERPINI1 Gene

protein-coding   GIFtS: 63
GCID: GC03P167453

Serpin Peptidase Inhibitor, Clade I (Neuroserpin), Member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade I (neuroserpin),...)
(Previous symbol: PI12)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade I (Neuroserpin), Member 11 2     Serpin I12 3
PI121 2 3 5     PI-122 3
Serine (Or Cysteine) Proteinase Inhibitor, Clade I (Neuroserpin), Member 11 2     neuroserpin2
Peptidase Inhibitor 122 3     

External Ids:    HGNC: 89431   Entrez Gene: 52742   Ensembl: ENSG000001635367   OMIM: 6024455   UniProtKB: Q995743   

Export aliases for SERPINI1 gene to outside databases

Previous GC identifers: GC03P164743 GC03P168506 GC03P168855 GC03P168774 GC03P168936


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 familial encephalopathy with neuroserpin inclusion bodies, and dementia familial british, and among its related super-pathways are Cell adhesion Plasmin signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB7.

UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574
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 Wiki entry for SERPINI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERPINI1 gene promoter:
         S8   POU2F1   p300   NF-E2   NF-E2 p45   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SERPINI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SERPINI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.1   Ensembl cytogenetic band:  3q26.1   HGNC cytogenetic band: 3q26.1

SERPINI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINI1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P167453:  view genomic region     (about GC identifiers)

Start:
167,453,031 bp from pter      End:
167,543,357 bp from pter
Size:
90,327 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574 (See protein sequence)
Recommended Name: Neuroserpin precursor  
Size: 410 amino acids; 46427 Da
Subcellular location: Secreted
3 PDB 3D structures from and Proteopedia for SERPINI1:
3F02 (3D)        3F5N (3D)        3FGQ (3D)    
Secondary accessions: A8K217 D3DNP1 Q6AHZ4

Explore the universe of human proteins at neXtProt for SERPINI1: NX_Q99574

Explore proteomics data for SERPINI1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99574

  • SERPINI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SERPINI1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001116224.1  NP_005016.1  

    ENSEMBL proteins: 
     ENSP00000420133   ENSP00000397373   ENSP00000295777   ENSP00000420561   ENSP00000420807  

    Human Recombinant Protein Products for SERPINI1: 
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    Sino Biological Cell Lysate for SERPINI1 
    ProSpec Recombinant Protein for SERPINI1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--

    SERPINI1 for ontologies           About GeneDecksing



    SERPINI1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    Graphical View of Domain Structure for InterPro Entry Q99574

    ProtoNet protein and cluster: Q99574

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574
    Similarity: Belongs to the serpin family


    SERPINI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEUS_HUMAN, Q99574
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
         
    SERPINI1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Serpini1):
     behavior/neurological 

    SERPINI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Serpini1tm1Dpw for SERPINI1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SERPINI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SERPINI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINI1 

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate SERPINI1:
    hsa-miR-200c hsa-miR-429 hsa-miR-200b hsa-miR-218 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidSERPINI1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SERPINI1

    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SERPINI1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Plasmin signaling
    Cell adhesion Plasmin signaling1.00
    2Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SERPINI1
        Cell adhesion Plasmin signaling


    1 GeneGo (Thomson Reuters) Pathway for SERPINI1
        Cell adhesion Plasmin signaling

    1 BioSystems Pathway for SERPINI1
        Validated targets of C-MYC transcriptional activation




    SERPINI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPINI1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for SERPINI1 (Q995743 ENSP000002957774) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLATP007503, ENSP000002208094I2D: score=3 STRING: ENSP00000220809
    PLGP007473, ENSP000003089384I2D: score=1 STRING: ENSP00000308938
    DEDDO756183I2D: score=1 
    PRSS1P074773I2D: score=1 
    MAXENSP000003514904STRING: ENSP00000351490
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development TAS9070919
    GO:0007422peripheral nervous system development TAS9070919
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030155regulation of cell adhesion IEA--
    GO:0030162regulation of proteolysis IBA--

    SERPINI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SERPINI1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERPINI1 (NEUS)

    2 Novoseek inferred chemical compound relationships for SERPINI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 70.7 16 17040209 (1), 9407089 (1), 12354288 (1), 15029525 (1) (see all 15)
    calcium 0 2 19423713 (2)

    Search CenterWatch for drugs/clinical trials and news about SERPINI1 / NEUS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SERPINI1 gene (2 alternative transcripts): 
    NM_001122752.1  NM_005025.4  

    Unigene Cluster for SERPINI1:

    Serpin peptidase inhibitor, clade I (neuroserpin), member 1
    Hs.478153  [show with all ESTs]
    Unigene Representative Sequence: NM_005025
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472941 ENST00000446050(uc003ffa.4) ENST00000295777(uc003ffb.4)
    ENST00000472747 ENST00000488374 ENST00000466865 ENST00000494666

    miRNA
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    hsa-miR-200c hsa-miR-429 hsa-miR-200b hsa-miR-218 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidSERPINI1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINI1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINI1
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    Additional mRNA sequence: 

    AK290082.1 BC018043.1 CR627434.1 Z81326.1 

    3 DOTS entries:

    DT.313518  DT.99939319  DT.95374264 

    24/92 AceView cDNA sequences (see all 92):

    BI915951 BU733768 R14666 BU618739 BX282083 BU729610 BU616571 BI962881 
    Z81326 NM_005025 BG706682 BI597881 BI966764 F07041 N53887 CF134524 
    BG619619 AI742453 AA115876 BM819922 CB177948 CK005241 CB957198 AW959995 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINI1    About this scheme

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


    ECgene alternative splicing isoforms for SERPINI1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SERPINI1 expression in normal human tissues (normalized intensities)      SERPINI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCGAAGA
    SERPINI1 Expression
    About this image


    SERPINI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Gonad
             XY Germ Cells Testis Cord

    See SERPINI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPINI1

    SOURCE GeneReport for Unigene cluster: Hs.478153

    UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574
    Tissue specificity: Predominantly expressed in the brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SERPINI1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpini11 , 5 serine (or cysteine) peptidase inhibitor, clade I, more1, 5 85.04(n)1
    86.34(a)1
      3 (33.76 cM)5
    207131  NM_009250.21  NP_033276.11 
     755575475 
    chicken
    (Gallus gallus)
    Aves SERPINI11 serpin peptidase inhibitor, clade I (neuroserpin), more 77.72(n)
    80.24(a)
      425002  NM_001004411.1  NP_001004411.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPINI16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    3(9179512-9225525)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.84882 Xenopus laevis transcribed sequence with weak similarity more 78.31(n)    BX853999.1 
    zebrafish
    (Danio rerio)
    Actinopterygii serpini11 serpin peptidase inhibitor, clade I (neuroserpin), more 61.75(n)
    59.5(a)
      557627  NM_001128692.1  NP_001122164.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spn41 , 3 serpin3
    Serine protease inhibitor 41
    34(a)
    (best of 8)3
    46.72(n)1
    36.12(a)1
      42D43
    498051  NM_080216.21  NP_524955.21 
    worm
    (Caenorhabditis elegans)
    Secernentea srp-63 serine protease inhibitor 28(a)
    (best of 3)
      V(7386908-7388670)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERPINI1 gene
    SERPINB72  SERPINB12  SERPINB52  SERPINB122  SERPINI22  SERPINB22  SERPINB102  SERPINB32  
    SERPINB42  SERPINE22  SERPINB62  SERPINC12  SERPINB92  SERPINE12  SERPINB112  SERPINE32  
    SERPINB132  SERPINB82  
    18/34 SIMAP similar genes for SERPINI1 using alignment to 4 protein entries:     NEUS_HUMAN (see all proteins) (see all similar genes):
    DKFZp686O07189    SERPINA5    SERPINI2    SERPINB11    DKFZp686D06190    SERPINE1
    AT3    SERPINE2    SERPINA11    SERPINB3    SERPINA12    SERPINA3
    SERPINA6    SERPINA9    SERPINB1    SERPINB6    SERPINB7    SERPINC1

    SERPINI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1908 SNPs in SERPINI1 are shown (see all 1908)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0085204
    Familial encephalopathy with neuroserpin inclusion bodies (FEN1B)4--see VAR_0085202 S P mis40--------
    VAR_0085214
    Familial encephalopathy with neuroserpin inclusion bodies (FEN1B)4--see VAR_0085212 S R mis40--------
    rs719728311,2
    C--164856828(+) TTCTT-/TTTG  
            
    TTGTT
    2 -- int10--------
    rs752369231,2
    C,F--164860677(+) GACTCT/ACTCTC 2 -- int11Minor allele frequency- A:0.50NA 2
    rs352159331,2
    C--164905693(+) GCTAA-/TTTTTT 2 -- int10--------
    rs339874131,2
    C--164905948(+) TTGGT-/TTGT  
            
    TGTTT
    2 -- int10--------
    rs359434421,2
    C--164913052(+) ACAGG-/AGGA  
            
    AGGAA
    2 -- int10--------
    rs67820991,2
    H--167314835(+) TTTTTT/CCCAAA 2 -- us2k1 tfbs33Minor allele frequency- C:0.00EA NS 292
    rs1420254321,2
    --167314836(+) TTTTTA/CCAAAA 2 -- us2k10--------
    rs1506607111,2
    --167314871(+) TCACTC/TCGGTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SERPINI1 (167453031 - 167543357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SERPINI1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4105CNV Insertion18451855
    nsv460986CNV Loss19166990
    nsv483122CNV Loss15286789


    Human Gene Mutation Database (HGMD): SERPINI1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602445   
    OMIM disorders: 604218  
    UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574
  • Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]: Characterized clinically
    as an autosomal dominantly inherited dementia, histologically by unique neuronal inclusion bodies and
    biochemically by polymers of neuroserpin. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/32 diseases for SERPINI1 (see all 32):    About MalaCards
    familial encephalopathy with neuroserpin inclusion bodies    dementia familial british    myoclonus epilepsy    progressive myoclonus epilepsy
    tauopathy    myoclonus    dementia    alpha 1-antitrypsin deficiency
    frontotemporal dementia    status epilepticus    proliferative diabetic retinopathy    traumatic brain injury
    diabetic retinopathy    huntington's disease    brain injury    brain disease
    chronic obstructive pulmonary disease    liver cirrhosis    gingivitis    alzheimer's disease


    SERPINI1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/18 Novoseek inferred disease relationships for SERPINI1 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fenib 98.7 39 15291813 (5), 11880376 (3), 15090543 (3), 19285087 (2) (see all 16)
    familial dementia 96.5 22 15664988 (2), 14694355 (1), 15291813 (1), 10517635 (1) (see all 13)
    dementia, familial british 79.4 2 11914409 (1)
    encephalopathy 76.7 52 17392169 (3), 11559315 (2), 11880376 (2), 16782060 (2) (see all 26)
    dementia 65.4 30 15291813 (2), 11880376 (1), 10517635 (1), 19285087 (1) (see all 22)
    dementia presenile 65 1 17606885 (1)
    progressive myoclonus epilepsies 56.6 3 17606885 (1), 11138927 (1)
    tauopathies 46.6 1 17392169 (1)
    neurodegenerative diseases 44.3 6 11141496 (2), 17392169 (2), 11559315 (1), 17606885 (1)
    cirrhosis 44.1 4 16704419 (1), 19426146 (1), 19245336 (1), 15787598 (1)

    Genetic Association Database (GAD): SERPINI1
    Human Genome Epidemiology (HuGE) Navigator: SERPINI1 (4 documents)

    Export disorders for SERPINI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SERPINI1 gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with SERPINI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human neuroserpin (PI12): cDNA cloning and chromosomal localization to 3q26. (PubMed id 9070919)1, 2, 9 Schrimpf S.P.... Sonderegger P. (1997)
    2. Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women study. (PubMed id 17961231)1, 4, 9 Cole J.W....Kittner S.J. (2007)
    3. Familial dementia caused by polymerization of mutant neuroserpin. (PubMed id 10517635)1, 2, 9 Davis R.L.... Lomas D.A. (1999)
    4. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    5. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    6. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Association between conformational mutations in neuroserpin and onset and severity of dementia. (PubMed id 12103288)1, 4 Davis R.L....Holohan P.D. (2002)
    9. A study of the oxidation-induced conformational and functional changes in neuroserpin. (PubMed id 18051703)1, 9 Mohsenifar A....Hasannia S. (2007)
    10. Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system. (PubMed id 14983220)1, 9 Yepes M. and Lawrence D.A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5274 HGNC: 8943 AceView: SERPINI1 Ensembl:ENSG00000163536 euGenes: HUgn5274
    ECgene: SERPINI1 H-InvDB: SERPINI1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SERPINI1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINI1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SERPINI1 gene:
    Search GeneIP for patents involving SERPINI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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