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

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...)
(Previous symbol: C1NH)
 Explore 41 diseases affiliated with
SERPING1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SERPING1    

Aliases
for SERPING1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Serpin Peptidase Inhibitor, Clade G (C1 Inhibitor), Member 11 2     C1-INH1
C1NH1 2 3 5     Serine (Or Cysteine) Proteinase Inhibitor, Clade G (C1 Inhibitor), Member 1,
(Angioedema, Hereditary)1
C1IN1 2 3     C1INH2
HAE11 2 5     Complement Component 1 Inhibitor2
HAE21 2 5     Plasma Protease C1 Inhibitor2
Serpin G12 3     Serine/Cysteine Proteinase Inhibitor Clade G Member 12
C1 Esterase Inhibitor2 3     C1Inh3
C1-Inhibiting Factor2 3     C1 Inh3

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


Summaries
for SERPING1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SERPING1:
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)

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)


Genomic Views
for SERPING1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERPING1 gene promoter:
         STAT1   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SERPING1 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

Proteins
for SERPING1 gene

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05155

    • SERPING1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    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 (see all 2): SERPING1
    OriGene Protein Over-expression Lysate (see all 2): SERPING1
    OriGene Custom Protein Services for SERPING1 
    GenScript Custom Purified and Recombinant Proteins Services for SERPING1
    Novus Biologicals SERPING1 Protein
    Novus Biologicals SERPING1 Lysates
    Sino Biological Recombinant Protein for SERPING1
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SERPING1

    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
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    Novus Biologicals SERPING1 Antibodies
    Abcam antibodies for SERPING1 
    Uscn Antibodies for SERPING1
    ThermoFisher Antibodies for SERPING1

    Assay Products for SERPING1: 
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    Uscn ELISAs and CLIAs for SERPING1

    Protein Domains /
    Families
    for SERPING1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SERPING1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000215 Serpin

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


    Function
    for SERPING1 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): SERPING1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPING1
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    SwitchGear 3'UTR luciferase reporter plasmid: SERPING1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPING1 (see all 7)
    OriGene shRNA RFP: SERPING1
    OriGene siRNA: SERPING1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPING1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SERPING1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERPING1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): 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 

    Cell Line
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    Search LifeMap BioReagents cell lines for SERPING1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPING1

    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


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

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

    SERPING1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SERPING1 gene

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

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response_Classical complement pathway
    		Immune response_Classical complement pathway1.00
    		Immune response Classic complement pathway0.98
    2Formation of Fibrin Clot (Clotting Cascade)
    		Formation of Fibrin Clot (Clotting Cascade)1.00
    		Intrinsic Pathway0.59
    3Platelet degranulation
    		Platelet degranulation 1.00
    		Response to elevated platelet cytosolic Ca2+0.94
    4Complement and coagulation cascades
    		Complement and coagulation cascades1.00
    		Complement and Coagulation Cascades0.72
    5Platelet activation, signaling and aggregation
    		Platelet activation, signaling and aggregation1.00
    		Hemostasis0.43

    Pathway sources
    See GeneCards unified pathways
    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

    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)

    5/49 Interacting proteins for SERPING1 (P051553 ENSP000002784074) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1SP098713, ENSP000003281734I2D: score=4 STRING: ENSP00000328173
    C1RP007363, ENSP000002905754I2D: score=2 STRING: ENSP00000290575
    F2P007343, ENSP000003085414I2D: score=2 STRING: ENSP00000308541
    PLATP007503, ENSP000002208094I2D: score=2 STRING: ENSP00000220809
    SELEP165813, ENSP000003317364I2D: score=2 STRING: ENSP00000331736
    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



    Drugs & Compounds
    for SERPING1 gene

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

    SERPING1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SERPING1
    4 Novoseek 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 

    Transcripts
    for SERPING1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPING1
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPING1 (see all 7)
    OriGene shRNA RFP: SERPING1
    OriGene siRNA: SERPING1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPING1
    Clone
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    Primer
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    Additional cDNA 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):

    BM708660 BM708438 BF726055 BG697221 BP344928 W94183 BM694434 BF725731 
    BQ639163 BP367089 CR626630 BP343696 AL545495 AW474418 BP376681 BM670922 
    BF725601 BU731853 CR614595 BQ183775 BC011171 BP342264 AW805156 BG697303 

    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

    Expression
    for SERPING1 gene

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

    SERPING1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCTCCAAAC

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

    SERPING1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumMature Cardiac FibroblastsEpicardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)

    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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    In Situ
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    Orthologs
    for SERPING1 gene

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

    Orthologs for SERPING1 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SERPING11 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) less 52.75(n)
    40.33(a)    		   423132  XM_003641376.1  XP_003641424.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SERPING16
    		 --
    		 42(a)
    		 1 ↔ 1
    		 1(91665829-91680669)
    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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Spn16
    Spn42Dc6
    (see all 26)    		 Serpin 42Dc
    (see all 26)    		 25(a)
    22(a)
    (see all 26)    		 possible ortholog
    possible ortholog
    (see all 26)    		 2R(2770786-2772378)
    2R(2768501-2770912)
    worm
    (Caenorhabditis elegans)    		 Secernentea srp-66
    srp-26
    (see all 6)    		 SeRPin family member (srp-2)
    (see all 6)    		 21(a)
    21(a)
    (see all 6)    		 possible ortholog
    possible ortholog
    (see all 6)    		 V(7384214-7386288)
    V(762735-764658)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G252406
    AT2G263906
    (see all 10)    		 serpin-Z3
    (see all 10)    		 20(a)
    20(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 2(10751768-10753134)
    2(11229087-11230491)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 16)    		 serpin domain containing protein, putative, expres...
    serpin domain containing protein, putative, expres...
    (see all 16)    		 22(a)
    22(a)
    (see all 16)    		 many ↔ many
    many ↔ many
    (see all 16)    		 3(23053071-23066803)
    11(7423829-7425356)


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

    Paralogs
    for SERPING1 gene

    (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  SERPINA52  
    SERPINF12  SERPIND12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    4 SIMAP similar genes for SERPING1 using alignment to 11 protein entries:     IC1_HUMAN (see all proteins):
    DKFZp686D06190    SERPINB12    SERPINA3    SERPINI1

    SERPING1 for paralogs           About GeneDecksing



    Genomic Variants
    for SERPING1 gene

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

    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


    10/358 NCBI SNPs in SERPING1 are shown (see all 358)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289408701,2
    		Cpathogenic53730738(+) TGGCCA/C/TGCACC 6 S R C mis1 ese31NA 2
    rs112290631,2
    		C,F,other53718524(+) GGACAG/AAGGGA 2 -- int17Minor allele frequency- A:0.14NS NA WA EA 454
    rs1415939431,2
    		C,other53722265(+) CAACAC/TACCCC 2 -- int10--------
    rs283629311,2
    		C,--53712082(+) AGTGAA/GTTAGG 1 -- us2k14Minor allele frequency- G:0.01NS NA 94
    rs283629321,2
    		C,F,--53712234(+) TGTTAT/CATAAC 1 -- us2k15Minor allele frequency- C:0.05NS NA WA 212
    rs283629331,2
    		C,F,--53712307(+) CTCTTT/CCTGGG 1 -- us2k14Minor allele frequency- C:0.05NS NA WA 210
    rs283629361,2
    		C,F,--53712769(+) CAAGGG/CATCCT 2 -- us2k14Minor allele frequency- C:0.04NS CSA WA 213
    rs283629371,2
    		C,F,--53712955(+) GTCTAT/CTGTGG 2 -- us2k16Minor allele frequency- C:0.05NS NA CSA WA 215
    rs283629381,2
    		C,--53712996(+) TTTCAA/GGTTTT 2 -- us2k13Minor allele frequency- G:0.01NS NA 96
    rs19726711,2
    		C,H--53713174(+) GCCCAG/ACTAAT 2 -- us2k15Minor allele frequency- A:0.00NS EA NA 422

    HapMap Linkage Disequilibrium report for SERPING1 (57364860 - 57382326 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SERPING1
         1 CNV: 4744
    Human Gene Mutation Database (HGMD): SERPING1

    Locus Specific Mutation Databases (LSDB): SERPING1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SERPING1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SERPING1 for disorders           About GeneDecksing

    OMIM gene information: 606860   
    OMIM disorders: 106100  120790  
    UniProtKB/Swiss-Prot: IC1_HUMAN, P05155
  • Defects in SERPING1 are the cause of hereditary angioedema (HAE) [MIM:106100]; also called hereditary
    • angioneurotic edema (HANE). HAE is an autosomal dominant disorder characterized by episodic local subcutaneous edema
    and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE due to C1 esterase inhibitor
    deficiency is comprised of two clinically indistinguishable forms. In HAE type 1, representing 85% of patients, serum
    levels of C1 esterase inhibitor are less than 35% of normal. In HAE type 2, the levels are normal or elevated, but the
    protein is non-functional

    20/41 diseases for SERPING1 (see all 41):    About MalaCards
    angioedema    complement component 4, partial deficiency of    angioedema, hereditary, types i and ii    capillary leak syndrome
    age related macular degeneration    myocardial infarction    acute myocardial infarction    non-hodgkin lymphoma
    acquired angioedema    autoimmune hemolytic anemia    hemolytic anemia    otitis media
    macular degeneration    hereditary angioedema    contact dermatitis    systemic lupus erythematosus
    lupus erythematosus    hodgkin's lymphoma    urticaria    anemia

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

    10 Novoseek 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

    Publications
    for SERPING1 gene

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

    PubMed articles for SERPING1 gene, integrated from 9 sources (see all 185):
    (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. C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease. (PubMed id 17488724)1, 2 Beinrohr L.... Zavodszky P. (2007)
    6. Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. (PubMed id 16409206)1, 2 Kang H.-R.... Kim Y.-Y. (2006)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    8. Potentiation of C1 esterase inhibitor by StcE, a metalloprotease secreted by Escherichia coli O157:H7. (PubMed id 15096536)1, 2 Lathem W.W.... Welch R.A. (2004)
    9. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for SERPING1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SERPING1 gene

    (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

    Other Databases showing SERPING1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SERPING1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/

    Intellectual Property
    for SERPING1 gene

    (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:
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