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

SERPINI1 Gene

protein-coding   GIFtS: 62
GCID: GC03P167453

serpin peptidase inhibitor, clade I (neuroserpin), member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade I (neuroserpin),...)
(Previous symbol: PI12)
 Explore 34 diseases affiliated with
SERPINI1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SERPINI1    

Aliases
for SERPINI1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Serpin Peptidase Inhibitor, Clade I (Neuroserpin), Member 11 2     Peptidase Inhibitor 122 3
PI121 2 3 5     Serpin I12 3
Neuroserpin1     PI-122 3
Serine (Or Cysteine) Proteinase Inhibitor, Clade I (Neuroserpin), Member 11 2     

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


Summaries
for SERPINI1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  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

Proteins
for SERPINI1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99574

    • SERPINI1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000420133   ENSP00000397373   ENSP00000295777   ENSP00000420561   ENSP00000417873  
     ENSP00000420807  

    Human Recombinant Protein Products: 
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals SERPINI1 Protein
    Sino Biological Recombinant Protein for SERPINI1
    ProSpec Recombinant Protein for SERPINI1
    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    SERPINI1 for ontologies           About GeneDecksing



    SERPINI1 Antibody Products: 
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    Search for Antibodies for SERPINI1 at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibody for SERPINI1

    Assay Products for SERPINI1: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for SERPINI1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SERPINI1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB000215 Serpin

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


    Function
    for SERPINI1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINI1
    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 plasmid: SERPINI1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINI1 (see all 7)
    OriGene shRNA RFP: SERPINI1
    OriGene siRNA: SERPINI1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPINI1

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINI1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SERPINI1 (NM_005025)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINI1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SERPINI1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINI1

    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


    Animal Models:
         Mouse knock-out Serpini1tm1Dpw for SERPINI1
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Serpini1):
     behavior/neurological 

    SERPINI1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SERPINI1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_CNTF receptor signaling
    		Cell adhesion_Plasmin signaling0.07
    		Cell adhesion Plasmin signaling0.07
    2Validated targets of C-MYC transcriptional activation
    		Validated targets of C-MYC transcriptional activation1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for SERPINI1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    2 Novoseek 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 

    Transcripts
    for SERPINI1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472941 ENST00000446050(uc003ffa.4) ENST00000295777(uc003ffb.4)
    ENST00000472747 ENST00000466979 ENST00000488374 ENST00000466865 ENST00000494666


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINI1
    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 plasmid: SERPINI1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINI1 (see all 7)
    OriGene shRNA RFP: SERPINI1
    OriGene siRNA: SERPINI1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPINI1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINI1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERPINI1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SERPINI1 (NM_005025)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINI1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SERPINI1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SERPINI1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINI1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINI1

    Additional cDNA 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):

    BU733768 NM_005025 BU729610 BI962881 R14666 Z81326 BX282083 BU616571 
    BI915951 BU618739 CR627434 CB958334 CF134524 BM983677 BM702692 AA115876 
    CK005241 BX488875 BM819922 BG701754 BG619619 CD677494 AA115877 AI797921 

    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

    Expression
    for SERPINI1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTCGAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SERPINI1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyGlomerulusKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

    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

        SABiosciences Custom PCR Arrays for SERPINI1
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINI1

    Orthologs
    for SERPINI1 gene

    (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 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 3(9179512-9225326)
    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 


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

    Paralogs
    for SERPINI1 gene

    (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  SERPINE32  SERPINB132  
    SERPINB82  
    18/34 SIMAP similar genes for SERPINI1 using alignment to 5 protein entries:     NEUS_HUMAN (see all proteins) (see all similar genes):
    DKFZp686O07189    SERPINA5    SERPINB11    SERPINI2    SERPINB6    DKFZp686D06190
    SERPINE1    AT3    SERPINE2    SERPINA3    SERPINA11    SERPINB3
    SERPINB12    SERPINB1    SERPINB8    SERPINA12    SERPINA6    SERPINA9

    SERPINI1 for paralogs           About GeneDecksing



    Genomic Variants
    for SERPINI1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1627 NCBI SNPs in SERPINI1 are shown (see all 1627)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs67820991,2
    		H--164821770(+) TTTTTT/CCCAAA 2 -- us2k1 tfbs33Minor allele frequency- C:0.00EA NS 292
    rs798971061,2
    		--164821990(+) CGTCAT/CATAAT 2 -- us2k11Minor allele frequency- C:0.01NA 120
    rs168514561,2
    		F--164822424(+) TAGAGG/AAGACT 2 -- us2k12Minor allele frequency- A:0.01MN EA 356
    rs38116841,2
    		H--164822758(-) GGACAA/GCGCCT 2 -- us2k13Minor allele frequency- G:0.00EA NS 286
    rs746750201,2
    		F,--164822766(+) TCCGGA/CATCCT 2 -- us2k11Minor allele frequency- C:0.09WA 118
    rs38116831,2
    		C,F,H,--164822890(-) CATCGC/TCTCAG 2 -- us2k118Minor allele frequency- T:0.04EA NS NA MN CSA WA 2352
    rs754219441,2
    		F,--164823043(+) CAGGCG/CCCTCA 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs117149801,2
    		C,F,H,--164823053(+) ACCCAT/CTGAGG 2 -- us2k17Minor allele frequency- C:0.23NA WA EA 366
    rs1136622071,2
    		C,--164823088(+) GGAAGG/CGGGTG 2 -- us2k12Minor allele frequency- C:0.07WA 120
    rs130882541,2
    		H--164823690(+) TCCTTC/TTTCGG 2 -- ut51 int13Minor allele frequency- T:0.00EA NS 300

    HapMap Linkage Disequilibrium report for SERPINI1 (167453031 - 167543357 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SERPINI1
         1 CNV: 0039
    Human Gene Mutation Database (HGMD): SERPINI1

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    Disorders / Diseases
    for SERPINI1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SERPINI1 for disorders           About GeneDecksing

    OMIM gene information: 602445   
    OMIM disorders: 604218  
    UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574
  • Defects in SERPINI1 are the cause of familial encephalopathy with neuroserpin inclusion bodies (FEN1B)
    • [MIM:604218]. FEN1B is characterized clinically as an autosomal dominantly inherited dementia, histologically by
    unique neuronal inclusion bodies and biochemically by polymers of neuroserpin

    20/34 diseases for SERPINI1 (see all 34):    About MalaCards
    familial encephalopathy with neuroserpin inclusion bodies    dementia familial british    alpha 1-antitrypsin deficiency    progressive myoclonus epilepsy
    myoclonus epilepsy    frontotemporal dementia    traumatic brain injury    myoclonus
    status epilepticus    proliferative diabetic retinopathy    brain injury    dementia
    chronic obstructive pulmonary disease    diabetic retinopathy    tauopathy    neurodegenerative disease
    huntington's disease    liver cirrhosis    pulmonary disease    alzheimer's disease

    10/18 Novoseek 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

    Publications
    for SERPINI1 gene

    (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 96):
    (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. Familial dementia caused by polymerization of mutant neuroserpin. (PubMed id 10517635)1, 2, 9 Davis R.L.... Lomas D.A. (1999)
    3. 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)
    4. Association between conformational mutations in neuroserpin and onset and severity of dementia. (PubMed id 12103288)1, 4 Davis R.L....Holohan P.D. (2002)
    5. A study of the oxidation-induced conformational and functional changes in neuroserpin. (PubMed id 18051703)1, 9 Mohsenifar A....Hasannia S. (2007)
    6. 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)
    7. Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum. (PubMed id 15090543)1, 9 Miranda E....Lomas D.A. (2004)
    8. Neuroserpin regulates neurite outgrowth in nerve growth factor-treated PC12 cells. (PubMed id 12354288)1, 9 Parmar P.K....Birch N.P. (2002)
    9. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. (PubMed id 11880376)1, 9 Belorgey D....Lomas D.A. (2002)
    10. Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies. (PubMed id 15664988)1, 9 Onda M....Lomas D.A. (2005)

    External Searches for SERPINI1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing SERPINI1 gene

    (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

    Other Databases showing SERPINI1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SERPINI1 gene

    (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

    Intellectual Property
    for SERPINI1 gene

    (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:
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