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

SERPING1 Gene

protein-coding   GIFtS: 65
GCID: GC11P057364

Serpin Peptidase Inhibitor, Clade G (C1 Inhibitor), Member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor),...)
(Previous symbol: C1NH)
Microbiology & Infectious 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 G (C1 Inhibitor), Member 11 2     angioedema1
C1NH1 2 3 5     hereditary1
Plasma Protease C1 Inhibitor1 2     Serine (Or Cysteine) Proteinase Inhibitor, Clade G (C1 Inhibitor), Member
1, (Angioedema, Hereditary)1
Serpin G12 3     C1INH2
C1IN2 3     Complement Component 1 Inhibitor2
C1 Esterase Inhibitor2 3     Serine/Cysteine Proteinase Inhibitor Clade G Member 12
C1-Inhibiting Factor2 3     C1Inh3
HAE12 5     C1 Inh3
HAE22 5     

External Ids:    HGNC: 12281   Entrez Gene: 7102   Ensembl: ENSG000001491317   OMIM: 6068605   UniProtKB: P051553   

Export aliases for SERPING1 gene to outside databases

Previous GC identifers: GC11P059759 GC11P058878 GC11P057615 GC11P057140 GC11P057121 GC11P053713


(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 SERPING1 Gene:
This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its
protein inhibits activated C1r and C1s of the first complement component and thus regulates complement
activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative
splicing results in multiple transcript variants encoding the same isoform. (provided by RefSeq, Jul 2008)

GeneCards Summary for SERPING1 Gene: 
SERPING1 (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1) is a protein-coding gene. Diseases associated with SERPING1 include angioedema, and hereditary angioedema, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement and Coagulation Cascades. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and protein binding. An important paralog of this gene is SERPINA1.

UniProtKB/Swiss-Prot: IC1_HUMAN, P05155
Function: Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive
stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important
physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of
kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein

Gene Wiki entry for SERPING1 (C1-inhibitor) 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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERPING1 gene promoter:
         STAT1   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPING1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SERPING1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPING1


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

Entrez Gene cytogenetic band: 11q12.1   Ensembl cytogenetic band:  11q12.1   HGNC cytogenetic band: 11q12.1

SERPING1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPING1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P057364:  view genomic region     (about GC identifiers)

Start:
57,364,860 bp from pter      End:
57,382,326 bp from pter
Size:
17,467 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: IC1_HUMAN, P05155 (See protein sequence)
Recommended Name: Plasma protease C1 inhibitor precursor  
Size: 500 amino acids; 55154 Da
Subunit: Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria
against complement-mediated lysis. Interacts with MASP1
Subcellular location: Secreted
Sequence caution: Sequence=AAA53096.1; Type=Erroneous gene model prediction;
2 PDB 3D structures from and Proteopedia for SERPING1:
1M6Q (3D)        2OAY (3D)    
Secondary accessions: A6NMU0 A8KAI9 B2R6L5 Q16304 Q547W3 Q59EI5 Q7Z455 Q96FE0 Q9UC49 Q9UCF9

Explore the universe of human proteins at neXtProt for SERPING1: NX_P05155

Explore proteomics data for SERPING1 at MOPED 

Post-translational modifications:

  • UniProtKB: Highly glycosylated (49%) with N- and O-glycosylation. O-glycosylated with core 1 or possibly core 8 glycans.
    N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and
    dHex1Hex6HexNAc5 (minor)
  • UniProtKB: Can be proteolytically cleaved by E.coli stcE
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05155

  • SERPING1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SERPING1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000053.2  NP_001027466.1  

    ENSEMBL proteins: 
     ENSP00000384561   ENSP00000278407   ENSP00000399746   ENSP00000341861   ENSP00000367574  
     ENSP00000367575   ENSP00000384420   ENSP00000432554   ENSP00000435431   ENSP00000431226  
    Reactome Protein details: P05155
    Human Recombinant Protein Products for SERPING1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for SERPING1 (Serpin G1/C1 Inhibitor)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for SERPING1
    OriGene Protein Over-expression Lysate for SERPING1
    OriGene MassSpec for SERPING1 
    OriGene Custom Protein Services for SERPING1
    GenScript Custom Purified and Recombinant Proteins Services for SERPING1
    Novus Biologicals SERPING1 Proteins
    Novus Biologicals SERPING1 Lysates
    Sino Biological Recombinant Protein for SERPING1
    Sino Biological Cell Lysate for SERPING1 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IBA--
    GO:0031093platelet alpha granule lumen TAS--

    SERPING1 for ontologies           About GeneDecksing



    SERPING1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SERPING1 (Serpin G1/C1 Inhibitor)
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    OriGene Custom Antibody Services for SERPING1
    GenScript Custom Superior Antibodies Services for SERPING1
    Novus Biologicals SERPING1 Antibodies
    Abcam antibodies for SERPING1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for SERPING1
    LSBio Antibodies in human, mouse, rat for SERPING1 

    Assay Products for SERPING1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SERPING1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SERPING1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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

    4 InterPro protein domains:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR015553 Protease_inhib_I4_serpin_C1
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    Graphical View of Domain Structure for InterPro Entry P05155

    ProtoNet protein and cluster: P05155

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: IC1_HUMAN, P05155
    Similarity: Belongs to the serpin family


    SERPING1 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: IC1_HUMAN, P05155
    Function: Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive
    stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important
    physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of
    kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IDA11527969
    GO:0005515protein binding IPI10946292
    GO:0008233peptidase activity ----
         
    SERPING1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SERPING1:
     Decreased viability of wild-ty 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Serping1):
     cardiovascular system  normal 

    SERPING1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SERPING1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SERPING1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPING1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPING1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPING1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SERPING1
    SwitchGear 3'UTR luciferase reporter plasmidSERPING1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SERPING1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SERPING1

    Clone
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    OriGene ORF clones in mouse, rat for SERPING1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SERPING1 (NM_000062)
    Sino Biological Human cDNA Clone for SERPING1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPING1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPING1
    Sirion Biotech Customized lentivirus for stable overexpression of SERPING1 
                         Customized lentivirus expression plasmids for stable overexpression of SERPING1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SERPING1
    Search LifeMap BioReagents cell lines for SERPING1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPING1


    (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 SERPING1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classic complement pathway0.53
    Immune response Lectin Induced complement pathway0.56
    Immune response Classical complement pathway0.52
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    4Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Intrinsic Pathway0.59
    5Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for SERPING1
        Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway
    Cell adhesion Plasmin signaling


    3 GeneGo (Thomson Reuters) Pathways for SERPING1
        Cell adhesion Plasmin signaling
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for SERPING1
        Complement and Coagulation Cascades

    1 Sino Biological Pathway for SERPING1 
        Complement Activation Pathways

    5/6        Reactome Pathways for SERPING1 (see all 6)
        Hemostasis
    Formation of Fibrin Clot (Clotting Cascade)
    Platelet degranulation
    Intrinsic Pathway
    Platelet activation, signaling and aggregation


    2         Kegg Pathways  (Kegg details for SERPING1):
        Complement and coagulation cascades
    Pertussis


    SERPING1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPING1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for SERPING1 (P051553 ENSP000002784074) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1SP098713, ENSP000003281734I2D: score=4 STRING: ENSP00000328173
    F2P007343, ENSP000003085414I2D: score=2 STRING: ENSP00000308541
    PLATP007503, ENSP000002208094I2D: score=2 STRING: ENSP00000220809
    SELEP165813, ENSP000003317364I2D: score=2 STRING: ENSP00000331736
    ELANEP082463, ENSP000002636214I2D: score=3 STRING: ENSP00000263621
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001869negative regulation of complement activation, lectin pathway IDA10946292
    GO:0002576platelet degranulation TAS--
    GO:0006508proteolysis ----
    GO:0006958complement activation, classical pathway IEA--
    GO:0007596blood coagulation TAS--

    SERPING1 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

    SERPING1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SERPING1 (IC1)

    4 Novoseek inferred chemical compound relationships for SERPING1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    danazol 68.8 6 12706530 (4), 1611187 (1)
    heparin 32.9 8 9813019 (3), 8487783 (1), 12773530 (1), 11460008 (1) (see all 5)
    serine 24.1 7 19522701 (2), 15158721 (1), 8850166 (1), 12773530 (1)
    alanine 6.48 2 15158721 (1), 16878977 (1)

    Search CenterWatch for drugs/clinical trials and news about SERPING1 / IC1

    (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 SERPING1 gene (2 alternative transcripts): 
    NM_000062.2  NM_001032295.1  

    Unigene Cluster for SERPING1:

    Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
    Hs.384598  [show with all ESTs]
    Unigene Representative Sequence: NM_000062
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405496 ENST00000278407(uc001nkp.1 uc010rju.1 uc010rjv.1 uc001nkr.1 uc001nks.1)
    ENST00000457869 ENST00000340687 ENST00000378323 ENST00000378324 ENST00000403558
    ENST00000531797 ENST00000531133 ENST00000531605 ENST00000528996 ENST00000530113

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SERPING1
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    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPING1
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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): SERPING1 (NM_000062)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPING1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPING1
    Sirion Biotech Customized lentivirus for stable overexpression of SERPING1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPING1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPING1

    Additional mRNA sequence: 

    AB209826.1 AK293054.1 AK303809.1 AK303840.1 AK312626.1 AY732485.1 AY732486.1 BC011171.2 
    BT006966.1 GU727623.1 M13203.1 M13656.1 M13690.1 M14036.1 X07577.1 

    24/32 DOTS entries (see all 32):

    DT.100892265  DT.100892328  DT.100641608  DT.100892305  DT.100892310  DT.40188812  DT.92003898  DT.100892281 
    DT.100892307  DT.95161551  DT.100892271  DT.120711763  DT.440328  DT.91908661  DT.95161525  DT.100045032 
    DT.120711740  DT.95082111  DT.100892276  DT.100892287  DT.100892324  DT.99970356  DT.100032240  DT.100772581 

    24/1037 AceView cDNA sequences (see all 1037):

    BX424572 BP374988 CR621653 BX448585 CD519375 CR600380 BQ183346 BQ709070 
    BQ897956 CA447788 AA363918 BQ718745 CA392377 AI401747 BU730757 BM997478 
    BP374678 BF724219 AI380794 BQ030442 AI240915 BP375248 CR610016 CB156952 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SERPING1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b
    SP1:                                            -     -     -     -                       -                                             
    SP2:                    -     -                 -           -     -     -     -           -                                             
    SP3:                                                                                      -                                             
    SP4:                                            -     -     -     -                       -     -     -     -                           
    SP5:        -     -     -     -                 -                                                                                       


    ECgene alternative splicing isoforms for SERPING1

    (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

    SERPING1 expression in normal human tissues (normalized intensities)      SERPING1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTCCAAAC
    SERPING1 Expression
    About this image


    SERPING1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Mature Cardiac Fibroblasts Myocardium
             Atrioventricular Node
             Human Cardiac Fibroblasts-adult ventrical (HCF-av)   
     
     Fibroblast
             Detroit 551
             Human Prostate Fibroblasts (HPrF)   
     
     Mesenchymal Stem Cells
             Human Mesenchymal Stem Cells (hMSC)   
     
     Epithelium
             Human Urothelial Cells (HUC)   
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle

    See SERPING1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPING1

    SOURCE GeneReport for Unigene cluster: Hs.384598
        SABiosciences Custom PCR Arrays for SERPING1
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    (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 chordates.

    Orthologs for SERPING1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serping11 , 5 serine (or cysteine) peptidase inhibitor, clade G, more1, 5 75.92(n)1
    70.22(a)1
      2 (49.45 cM)5
    122581  NM_009776.31  NP_033906.21 
     847653875 
    chicken
    (Gallus gallus)
    Aves SERPING11 serpin peptidase inhibitor, clade G (C1 inhibitor), more 52.75(n)
    40.33(a)
      423132  XM_003641376.1  XP_003641424.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPING16
    serpin peptidase inhibitor, clade G (C1 inhibitor)...
    36(a)
    1 ↔ 1
    1(91663216-91694744)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-110g5.21 si:dkeyp-110g5.2 49.27(n)
    34.7(a)
      567801  NM_001123285.1  NP_001116757.1 


    ENSEMBL Gene Tree for SERPING1 (if available)
    TreeFam Gene Tree for SERPING1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERPING1 gene
    SERPINA12  SERPINH12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPINA52  SERPIND12  SERPINA42  SERPINA62  SERPINA32  SERPINF22  
    4 SIMAP similar genes for SERPING1 using alignment to 11 protein entries:     IC1_HUMAN (see all proteins):
    DKFZp686D06190    SERPINB12    SERPINI1    SERPINA3

    SERPING1 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

    UniProtKB/Swiss-Prot: IC1_HUMAN, P05155
    Polymorphism: Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466
    as its reactive site in the variant His-466


    10/493 SNPs in SERPING1 are shown (see all 493)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0070244
    Hereditary angioedema (HAE)4--see VAR_0070242 V M mis40--------
    VAR_0273794
    Hereditary angioedema (HAE)4--see VAR_0273792 C Y mis40--------
    VAR_0070154
    Hereditary angioedema (HAE)4--see VAR_0070152 A E mis40--------
    VAR_0070294
    Hereditary angioedema (HAE)4--see VAR_0070292 L R mis40--------
    VAR_0273824
    Hereditary angioedema (HAE)4--see VAR_0273822 V E mis40--------
    VAR_0070174
    Hereditary angioedema (HAE)4--see VAR_0070172 A V mis40--------
    VAR_0273834
    Hereditary angioedema (HAE)4--see VAR_0273832 G E mis40--------
    VAR_0070184
    Hereditary angioedema (HAE)4--see VAR_0070182 A V mis40--------
    VAR_0070284
    Hereditary angioedema (HAE)4--see VAR_0070282 L P mis40--------
    VAR_0070204
    Hereditary angioedema (HAE)4--see VAR_0070202 R H mis40--------

    HapMap Linkage Disequilibrium report for SERPING1 (57364860 - 57382326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPING1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897588CNV Gain21882294
    nsv832163CNV Gain17160897


    Human Gene Mutation Database (HGMD): SERPING1

    Locus Specific Mutation Databases (LSDB): SERPING1
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    (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: 606860   
    OMIM disorders: 106100  120790  
    UniProtKB/Swiss-Prot: IC1_HUMAN, P05155
  • Hereditary angioedema (HAE) [MIM:106100]: An autosomal dominant disorder characterized by episodic local
    swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face,
    extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two
    clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are
    decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/42 diseases for SERPING1 (see all 42):    About MalaCards
    angioedema    hereditary angioedema    c1 inhibitor deficiency    angioedema, hereditary, types i and ii
    complement component 4, partial deficiency of    acquired angioedema    capillary leak syndrome    autoimmune hemolytic anemia
    age related macular degeneration    macular degeneration    hemolytic anemia    otitis media
    contact dermatitis    acute myocardial infarction    urticaria    protein s deficiency
    myocardial infarction    pertussis    vasculitis    epididymitis

    3 diseases from the University of Copenhagen DISEASES database for SERPING1:
    Urticaria     C1 inhibitor deficiency     Capillary leak syndrome

    SERPING1 for disorders           About GeneDecksing


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

    10 Novoseek inferred disease relationships for SERPING1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angioedema, hereditary 95.7 34 12773530 (2), 11139243 (2), 1595700 (1), 8172583 (1) (see all 27)
    angioedema 81.9 9 12706530 (2), 17137866 (1), 18205707 (1), 8403537 (1) (see all 7)
    edema 49.1 7 10093876 (2), 1862309 (1), 15580551 (1), 14635117 (1)
    tumors 3.02 2 10882413 (1), 8172557 (1)
    sepsis 0 1 12758149 (1)
    myocardial infarction 0 1 10375708 (1)
    necrosis 0 2 10882413 (1), 8172557 (1)
    inflammation 0 1 15158721 (1)
    acute myocardial infarction 0 4 12426513 (2), 12758149 (1)
    obstruction 0 1 15857357 (1)

    Genetic Association Database (GAD): SERPING1
    Human Genome Epidemiology (HuGE) Navigator: SERPING1 (18 documents)

    Export disorders for SERPING1 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 SERPING1 gene, integrated from 9 sources (see all 197):
    (articles sorted by number of sources associating them with SERPING1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. (PubMed id 2026152)1, 2, 3 Carter P.E.... Fothergill J.E. (1991)
    2. The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. (PubMed id 12773530)1, 2, 9 Bos I.G....Eldering E. (2003)
    3. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. (PubMed id 14635117)1, 2, 9 Kalmar L....Tordai A. (2003)
    4. Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. (PubMed id 8172583)1, 2, 9 Davies A.E.... Cicardi M. (1993)
    5. Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema. (PubMed id 22994404)1, 2 Xu Y.Y.... Zhang H.Y. (2012)
    6. SERPING1 polymorphisms in polypoidal choroidal vascul opathy. (PubMed id 20161815)1, 4 Li M....Luo G. (2010)
    7. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    8. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    9. The effect of genetic variants in SERPING1 on the ris k of neovascular age-related macular degeneration. (PubMed id 20606025)1, 4 Lee A.Y....Brantley M.A. (2010)
    10. Determination of a gene and environment risk model fo r age-related macular degeneration. (PubMed id 20576771)1, 4 Gibson J....Ennis S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 710 HGNC: 1228 AceView: SERPING1 Ensembl:ENSG00000149131 euGenes: HUgn710
    ECgene: SERPING1 Kegg: 710 H-InvDB: SERPING1

    (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 SERPING1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/C1-inhibitor
    SERPING1basehttp://bioinf.uta.fi/SERPING1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPING1
    SeattleSNPshttp://pga.gs.washington.edu/data/serping1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SERPING1 gene:
    Search GeneIP for patents involving SERPING1

    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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