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

Gene ID: 710, updated on 28-Jun-2020

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
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

Genomic context

See SERPING1 in Genome Data Viewer
Location:
11q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (57597685..57614848)
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

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
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

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

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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
regulation of complement activation TAS
Traceable Author Statement
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)

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
    P05155
    UniProtKB/TrEMBL
    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
    P05155
    UniProtKB/TrEMBL
    E9KL26
    Related
    ENSP00000384420.1, ENST00000403558.1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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