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

    Gene ID: 710, updated on 1-Mar-2024

    Summary

    Official Symbol
    SERPING1provided by HGNC
    Official Full Name
    serpin family G member 1provided by HGNC
    Primary source
    HGNC:HGNC:1228
    See related
    Ensembl:ENSG00000149131 MIM:606860; AllianceGenome:HGNC:1228
    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 encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]
    Expression
    Broad expression in liver (RPKM 710.5), gall bladder (RPKM 322.8) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SERPING1 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57597685..57614848)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57547859..57565023)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57365158..57382321)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 L6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3351 Neighboring gene ribosomal protein S4X pseudogene 13 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57349879-57350046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3353 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57406889-57407468 Neighboring gene MIR130A host gene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57410743-57411242 Neighboring gene microRNA 130a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4725 Neighboring gene yippee like 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    C1 inhibitor deficiency
    MedGen: C1852700 OMIM: 120790 GeneReviews: Not available
    Compare labs
    Hereditary angioedema type 1
    MedGen: C2717906 OMIM: 106100 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibrinolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of complement activation, lectin pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    plasma protease C1 inhibitor
    Names
    C1 esterase inhibitor
    C1-inhibiting factor
    C1-inhibitor
    complement component 1 inhibitor
    epididymis secretory sperm binding protein
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000062.3NP_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
      A6NMU0, A8KAI9, B2R6L5, B4E1F0, B4E1H2, P05155, Q16304, Q547W3, Q59EI5, Q7Z455, Q96FE0, Q9UC49, Q9UCF9
      UniProtKB/TrEMBL
      A0A384MDV8, E9KL26
      Related
      ENSP00000278407.4, ENST00000278407.9
      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_001032295.2NP_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
      A6NMU0, A8KAI9, B2R6L5, B4E1F0, B4E1H2, P05155, Q16304, Q547W3, Q59EI5, Q7Z455, Q96FE0, Q9UC49, Q9UCF9
      UniProtKB/TrEMBL
      A0A384MDV8, E9KL26
      Related
      ENSP00000504807.1, ENST00000676670.1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57597685..57614848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57547859..57565023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)