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SERPING1 Gene

protein-coding   GIFtS: 67
GCID: GC11P057364

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

(Previous names: serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor),...)
(Previous symbol: C1NH)
  See SERPING1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 c1 inhibitor deficiency, and angioedema. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPING1 gene promoter:
         STAT1   POU2F1   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • 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)1
  • Can be proteolytically cleaved by E.coli stcE1
  • Glycosylation2 at Asn25, Thr47, Thr48, Ser64, Asn69, Thr71, Asn81, Thr83, Thr88, Thr92,
                                 Thr96, Asn238, Asn253, Asn272, Asn352
  • Modification sites at PhosphoSitePlus

  • See SERPING1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SERPING1 Human Recombinant Protein Products:

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    Sino Biological Cell Lysate for SERPING1
    ProSpec Recombinant Protein for SERPING1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SERPING1 

     
    antibodies-online proteins for SERPING1 (29 products) 

     
    antibodies-online peptides for SERPING1

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    antibodies-online antibodies for SERPING1 (45 products) 

    SERPING1 Assay Products:

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

    4 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR015553 C1-inh
     IPR023796 Serpin_dom

    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


    Find genes that share domains with SERPING1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IDA11527969
    GO:0005515protein binding IPI10946292
    GO:0008233peptidase activity ----
         
    Find genes that share ontologies with SERPING1           About GenesLikeMe


    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 

    Find genes that share phenotypes with SERPING1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SERPING1

    miRNA
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    hsa-mir-335-5p (MIRT018847)

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    Sino Biological Human cDNA Clone for SERPING1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPING1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPING1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IC1_HUMAN, P05155: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IBA--
    GO:0031093platelet alpha granule lumen TAS--
    GO:0070062extracellular vesicular exosome IDA19056867
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with SERPING1           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).
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    SuperPaths for SERPING1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Complement Activation Pathways0.30
    Immune response Classic complement pathway0.56
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    4Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Intrinsic Pathway0.00
    5Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43


    Find genes that share SuperPaths with SERPING1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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

    2 Reactome Pathways for SERPING1
        Platelet degranulation
    Intrinsic Pathway


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPING1
    Interactions:

        GeneGlobe Interaction Network for SERPING1

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

    Selected Interacting proteins for SERPING1 (P051553 ENSP000002784074) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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): Selected biological process terms (see all 13):    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--

    Find genes that share ontologies with SERPING1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with SERPING1           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 )
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    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

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    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1037):

    CR612675 BQ008309 AA428850 AI380794 CA389705 AW339467 CA427154 BM693063 
    CF552907 AU126412 CA447230 BX424572 AI279128 BM686172 BM707645 H83141 
    H92350 AL134647 CA428315 BQ721080 CR613065 BF725351 CB156952 BU632456 

    GeneLoc Exon Structure

    Selected 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™, 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)
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    SERPING1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 22) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Mature Cardiac Fibroblasts Myocardium
             Atrioventricular Node
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
             Detroit 551
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    SERPING1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPING1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.384598
        Custom PCR Arrays for SERPING1
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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SERPING1 gene from Selected species (see all 12)    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 78.05(n)1
    72.02(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 53.89(n)
    41.62(a)
      423132  XM_003641376.2  XP_003641424.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPING16
    serpin peptidase inhibitor, clade G (C1 inhibitor)...
    38(a)
    1 ↔ 1
    1(91663216-91694744)
    zebrafish
    (Danio rerio)
    Actinopterygii serping11 serpin peptidase inhibitor, clade G (C1 inhibitor), more 49.6(n)
    35.47(a)
      567801  NM_001123285.1  NP_001116757.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spn88Eb6
    Spn56
    (see all 3)
    Serine protease inhibitor 5
    (see all 3)
    22(a)
    21(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3R(11032418-11034484)
    3R(11028791-11032168)


    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)
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    Paralogs for SERPING1 gene
    SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  SERPINA52  
    SERPIND12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    4 SIMAP similar genes for SERPING1 using alignment to 11 protein entries:     IC1_HUMAN (see all proteins):
    DKFZp686D06190    SERPINB12    SERPINI1    SERPINA3

    Find genes that share paralogs with SERPING1           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)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    IC1_HUMAN, P05155: 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


    Selected SNPs for SERPING1 (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
    ----------
    rs2005347151,2,,4
    CHereditary angioedema (HAE)4 untested157287846(+) AGCCCA/GCTACT 4 T A mis10--------
    rs289408701,2,,4
    CHereditary angioedema (HAE)4 pathogenic157302139(+) TGGCCA/C/TGCACC 6 S R C mis1 ese30--------
    rs1219079481,2,,4
    CHereditary angioedema (HAE)4 pathogenic157302140(+) GGCCCA/G/TCACCC 6 H R L mis10--------
    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--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPING1
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPING1

    (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.)
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    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

  • 7 diseases for SERPING1:    
    About MalaCards
    c1 inhibitor deficiency    angioedema    angioedema, hereditary, types i and ii    hereditary angioedema
    complement component 4, partial deficiency of    acquired angioedema    capillary leak syndrome

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

    Find genes that share disorders with SERPING1           About GenesLikeMe

    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)
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    PubMed articles for SERPING1 gene, integrated from 10 sources (see all 205):
    (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. (Eur. J. Biochem. 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.A....Eldering E. (J. Biol. Chem. 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. (Hum. Mutat. 2003)
    4. Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. (PubMed id 8172583)1, 2, 9 Davis A.E. III... Cicardi M. (Behring Inst. Mitt. 1993)
    5. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    6. Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema. (PubMed id 22994404)1, 2 Xu Y.Y.... Zhang H.Y. (Allergy 2012)
    7. SERPING1 polymorphisms in polypoidal choroidal vasculopathy. (PubMed id 20161815)1, 4 Li M....Luo G. (Mol. Vis. 2010)
    8. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    9. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    10. The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration. (PubMed id 20606025)1, 4 Lee A.Y....Brantley M.A. (Br J Ophthalmol 2010)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=SERPING1[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/serping1/

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