Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



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)
  See SERPINI1-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

TryGeneCards Plus

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

TryGeneCards Plus

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 myoclonus. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for SERPINI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574 (See protein sequence)
Recommended Name: Neuroserpin precursor  
Size: 410 amino acids; 46427 Da
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: 

  • Glycosylation2 at Asn157, Asn321, Asn401

  • See SERPINI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000420133   ENSP00000397373   ENSP00000295777   ENSP00000420561   ENSP00000420807  

    SERPINI1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SERPINI1
    GenScript Purified and Recombinant Proteins for SERPINI1
    Novus Biologicals SERPINI1 Protein
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for SERPINI1
    ProSpec Recombinant Protein for SERPINI1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SERPINI1 

    SERPINI1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SERPINI1 (Serpin I1)
    OriGene Antibodies for SERPINI1
    OriGene Custom Antibody Services for SERPINI1
    Novus Biologicals SERPINI1 Antibodies
    Abcam antibodies for SERPINI1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for SERPINI1
    LSBio Antibodies in human, mouse, rat for SERPINI1

    SERPINI1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SERPINI1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SERPINI1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SERPINI1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    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


    Find genes that share domains with SERPINI1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
         
    Find genes that share ontologies with SERPINI1           About GenesLikeMe


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

    Find genes that share phenotypes with SERPINI1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Serpini1tm1Dpw for SERPINI1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target SERPINI1:
    hsa-mir-21-5p (MIRT030837)

    Block miRNA regulation of human, mouse, rat SERPINI1 using miScript Target Protectors
    5 qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for SERPINI1
    Predesigned siRNA for gene silencing in human, mouse, rat SERPINI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SERPINI1

    Clone
    Products:
         
    OriGene clones in human, mouse for SERPINI1 (see all 12)
    OriGene ORF clones in mouse, rat for SERPINI1
    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)
    Sino Biological Human cDNA Clone for SERPINI1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINI1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SERPINI1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SERPINI1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINI1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NEUS_HUMAN, Q99574: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with SERPINI1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SERPINI1 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPINI1
    Interactions:

        GeneGlobe Interaction Network for SERPINI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for SERPINI1 (Q995743 ENSP000002957774) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development TAS9070919
    GO:0007422peripheral nervous system development TAS9070919
    GO:0008219cell death IEA--
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030155regulation of cell adhesion IEA--

    Find genes that share ontologies with SERPINI1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    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)



    Find genes that share compounds with SERPINI1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SERPINI1 using miScript Target Protectors
    5 qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for SERPINI1
    Predesigned siRNA for gene silencing in human, mouse, rat SERPINI1
    Clone
    Products:
         
    OriGene clones in human, mouse for SERPINI1 (see all 12)
    OriGene ORF clones in mouse, rat for SERPINI1
    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 qPCR primer pairs and template standards for SERPINI1
    OriGene qSTAR qPCR primer pairs in human, mouse for SERPINI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINI1
      QuantiTect SYBR Green Assays in human, mouse, rat SERPINI1
      QuantiFast Probe-based Assays in human, mouse, rat SERPINI1

    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.313518  DT.99939319  DT.95374264 

    Selected AceView cDNA sequences (see all 92):

    BU616571 NM_005025 BU618739 Z81326 BX282083 BU733768 BU729610 R14666 
    BI915951 BI962881 BC018043 BX488875 CF134524 AA115877 BI597881 CK903556 
    BI458339 N53887 CK005241 BG701754 BM702692 AI469988 AI084579 CK903585 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SERPINI1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Mature Endothelial Cells Blood Brain Barrier
             Thalamus
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    SERPINI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.478153

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

        Custom PCR Arrays for SERPINI1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SERPINI1
    OriGene qSTAR qPCR primer pairs in human, mouse for SERPINI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINI1
    QuantiTect SYBR Green Assays in human, mouse, rat SERPINI1
    QuantiFast Probe-based Assays in human, mouse, rat SERPINI1
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for SERPINI1 gene from Selected 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
    serpin peptidase inhibitor, clade I (neuroserpin),...
    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 Spn43
    Spn42Da1
    serpin3
    Serpin 42Da1
    34(a)
    (best of 8)3
    46.72(n)1
    36.12(a)1
      42D43
    498051  NM_165496.31  NP_724512.11 


    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

    TryGeneCards Plus
    Paralogs for SERPINI1 gene
    SERPINB72  SERPINB12  SERPINB52  SERPINB122  SERPINI22  SERPINB22  SERPINB102  SERPINB32  
    SERPINB42  SERPINE22  SERPINB62  SERPINC12  SERPINB92  SERPINE12  SERPINB112  SERPINE32  
    SERPINB132  SERPINB82  
    Selected SIMAP similar genes for SERPINI1 using alignment to 4 protein entries:     NEUS_HUMAN (see all proteins) (see all similar genes):
    DKFZp686O07189    SERPINI2    SERPINB11    DKFZp686D06190    SERPINE1    AT3
    SERPINE2    SERPINA11    SERPINB3    SERPINA2    SERPINA12    SERPINA3
    SERPINA5    SERPINA6    SERPINA9    SERPINB1    SERPINB6    SERPINB7

    Find genes that share paralogs with SERPINI1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SERPINI1 (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
    Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)4--see VAR_0085202 S P mis40--------
    VAR_0085214
    Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB)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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPINI1
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 602445   
    OMIM disorders: 604218  
    UniProtKB/Swiss-Prot: NEUS_HUMAN, Q99574
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for SERPINI1:    
    About MalaCards
    familial encephalopathy with neuroserpin inclusion bodies    myoclonus    dementia


    Find genes that share disorders with SERPINI1           About GenesLikeMe

    Selected 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

    TryGeneCards Plus

    PubMed articles for SERPINI1 gene, integrated from 10 sources (see all 98):
    (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. (Genomics 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. (BMC Neurol 2007)
    3. Familial dementia caused by polymerization of mutant neuroserpin. (PubMed id 10517635)1, 2, 9 Davis R.L.... Lomas D.A. (Nature 1999)
    4. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    5. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    6. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    8. 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. (Genome Res. 2004)
    9. Association between conformational mutations in neuroserpin and onset and severity of dementia. (PubMed id 12103288)1, 4 Davis R.L....Holohan P.D. (Lancet 2002)
    10. A study of the oxidation-induced conformational and functional changes in neuroserpin. (PubMed id 18051703)1, 9 Mohsenifar A....Hasannia S. (Iran. Biomed. J. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5274 HGNC: 8943 AceView: SERPINI1 Ensembl:ENSG00000163536 euGenes: HUgn5274
    ECgene: SERPINI1 H-InvDB: SERPINI1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SERPINI1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SERPINI1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for SERPINI1 (Serpin I1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SERPINI1   OriGene RNAi products in human, mouse, rat for SERPINI1  
     OriGene qPCR primer pairs and template standards for SERPINI1   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SERPINI1  
     OriGene qSTAR qPCR primer pairs in human, mouse for SERPINI1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SERPINI1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SERPINI1   OriGene Custom Protein Services for SERPINI1  

     
     
     Block miRNA regulation of human, mouse, rat SERPINI1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SERPINI1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINI1 Predesigned siRNA for gene silencing in human, mouse, rat SERPINI1
     QuantiFast Probe-based Assays in human, mouse, rat SERPINI1 QuantiTect SYBR Green Assays in human, mouse, rat SERPINI1
     Custom PCR Arrays for SERPINI1 Search Chromatin IP Primers for SERPINI1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINI1  GeneGlobe Interaction Network for SERPINI1
     Regulatory tfbs in SERPINI1 promoter
     GenScript Purified and Recombinant Proteins for SERPINI1 GenScript cDNA clones with any tag delivered in your preferred vector for SERPINI1
     GenScript Custom Assay Services for SERPINI1 GenScript Custom overexpressing Cell Line Services for SERPINI1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SERPINI1 (NEUS)
     Browse Sino Biological Proteins
     Cell Lysates for SERPINI1
     cDNA Clones for SERPINI1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SERPINI1 antibodies
     SERPINI1 proteins
     Antibodies for SERPINI1
     See all of Abcam's Antibodies, Kits and Proteins for SERPINI1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for SERPINI1
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for SERPINI1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINI1
     SwitchGear 3'UTR luciferase reporter plasmids for SERPINI1
     SwitchGear Promoter luciferase reporter plasmids for SERPINI1
     ThermoFisher Antibody for SERPINI1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINI1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINI1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SERPINI1
     LSBio Antibodies in human, mouse, rat for SERPINI1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for SERPINI1
      Search eBioscience for proteins for SERPINI1
      Search eBioscience for elisas for SERPINI1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SERPINI1 gene at Home site.
    Version: 3.12.202 14 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4