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SERPING1 serpin family G member 1 [ Homo sapiens (human) ]

Gene ID: 710, updated on 26-May-2016
Official Symbol
SERPING1provided by HGNC
Official Full Name
serpin family G 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
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 E2 L6 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
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Hereditary angioedema type 1
MedGen: C2717906 OMIM: 106100 GeneReviews: Not available
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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, 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 IEA
Inferred from Electronic Annotation
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
serpin peptidase inhibitor clade G member 1
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1

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/Swiss-Prot
    P05155
    UniProtKB/TrEMBL
    E9KL26
    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/Swiss-Prot
    P05155
    UniProtKB/TrEMBL
    E9KL26
    Related
    ENSP00000384420, OTTHUMP00000197004, ENST00000403558, OTTHUMT00000317466
    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 details...

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)