Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 [ Homo sapiens (human) ]

    Gene ID: 710, updated on 24-Aug-2015
    Official Symbol
    SERPING1provided by HGNC
    Official Full Name
    serpin peptidase inhibitor, clade G (C1 inhibitor), member 1provided by HGNC
    Primary source
    HGNC:HGNC:1228
    See related
    Ensembl:ENSG00000149131; HPRD:06033; MIM:606860; Vega:OTTHUMG00000150304
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1IN; C1NH; HAE1; HAE2; C1INH
    Summary
    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]
    Orthologs
    See SERPING1 in Epigenomics, MapViewer
    Location:
    11q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (57597554..57614853)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57365027..57382326)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ubiquitin-conjugating enzyme E2L 6 Neighboring gene ribosomal protein S4X pseudogene 13 Neighboring gene microRNA 130a Neighboring gene yippee-like 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Complement component 4, partial deficiency of
    MedGen: C1852700 OMIM: 120790 GeneReviews: Not available
    Compare labs
    Hereditary angioedema type 1
    MedGen: C2717906 OMIM: 106100 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of serpin peptidase inhibitor, clade G, member 1 (SERPING1) in peptide-treated PBMCs PubMed
    Tat tat Microarray analysis indicates HIV-1 Tat upregulates the expression of many proteins, including Plasma protease (C1) inhibitor, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed
    retropepsin gag-pol HIV-1 protease directly cleaves complement component 1 inhibitor precursor between amino acid residues Leu-32 and Phe-33 in the N-terminal region of C1-inhibitor PubMed

    Go to the HIV-1, Human Interaction Database

    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...
    • Pertussis, organism-specific biosystem (from KEGG)
      Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Pertussis, conserved biosystem (from KEGG)
      Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    fibrinolysis IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of complement activation, lectin pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    platelet activation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    plasma protease C1 inhibitor
    Names
    C1 esterase inhibitor
    C1-inhibiting factor
    complement component 1 inhibitor
    serine/cysteine proteinase inhibitor clade G member 1
    serpin G1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009625.1 RefSeqGene

      Range
      5001..22300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_105

    mRNA and Protein(s)

    1. NM_000062.2NP_000053.2  plasma protease C1 inhibitor precursor

      See identical proteins and their annotated locations for NP_000053.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL703442, AP000662, AP002893, BQ183346
      Consensus CDS
      CCDS7962.1
      UniProtKB/TrEMBL
      E9KL26
      UniProtKB/Swiss-Prot
      P05155
      Related
      ENSP00000278407, OTTHUMP00000197003, ENST00000278407, OTTHUMT00000317465
      Conserved Domains (1) summary
      cd02050
      Location:145495
      C1_inh; C1 inhibitor (C1-Inh) is a protease inhibitor of the serpin family. It plays a pivotal role in regulating the activation of the classical complement pathway and of the contact system, via regulating bradykinin formation, inhibiting factor XII and ...
    2. NM_001032295.1NP_001027466.1  plasma protease C1 inhibitor precursor

      See identical proteins and their annotated locations for NP_001027466.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AP000662, AP002893, BQ183346
      Consensus CDS
      CCDS7962.1
      UniProtKB/TrEMBL
      E9KL26
      UniProtKB/Swiss-Prot
      P05155
      Conserved Domains (1) summary
      cd02050
      Location:145495
      C1_inh; C1 inhibitor (C1-Inh) is a protease inhibitor of the serpin family. It plays a pivotal role in regulating the activation of the classical complement pathway and of the contact system, via regulating bradykinin formation, inhibiting factor XII and ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      57597554..57614853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      57231240..57248536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)