SERPING1 Serpin Family G Member 1 [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections SERPING1 serpin family G member 1 [ Homo sapiens (human) ] Gene ID: 710, updated on 27-Nov-2024 Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help 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 mouse all NEW Try the new Gene table Try the new Transcript table

Genomic context

Go to the top of the page Help See SERPING1 in Genome Data Viewer Location: 11q12.1 Exon count: 8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57597685..57614848)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57547859..57565023)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57365158..57382321)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000011.10 Chromosome 11 Reference GRCh38.p14 Primary Assembly NG_009625.1 RefSeqGene NC_060935.1 Chromosome 11 Alternate T2T-CHM13v2.0 NC_000011.9 Chromosome 11 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development HPA RNA-seq normal tissues RNA sequencing of total RNA from 20 human tissues
  • 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

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Related articles in PubMed

  1. The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency. Csuka D, et al. Mol Immunol, 2013 Jul. PMID 23318225
  2. Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. Davis AE 3rd, et al. Behring Inst Mitt, 1993 Dec. PMID 8172583
  3. De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema. Bafunno V, et al. J Allergy Clin Immunol, 2013 Sep. PMID 23688413
  4. C1-inhibitor efficiently inhibits Escherichia coli-induced tissue factor mRNA up-regulation, monocyte tissue factor expression and coagulation activation in human whole blood. Landsem A, et al. Clin Exp Immunol, 2013 Aug. PMID 23607270, Free PMC Article
  5. Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema. Firinu D, et al. Clin Immunol, 2013 May. PMID 23583915

See all (242) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long term outcome of C1-esterase inhibitor deficiency. Title: Long term outcome of C1-esterase inhibitor deficiency.
  2. Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey. Title: Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey.
  3. Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization. Title: Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
  4. Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy. Title: Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy.
  5. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. Title: Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
  6. Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor. Title: Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.
  7. Interplay between C1-inhibitor and group IIA secreted phospholipase A2 impairs their respective function. Title: Interplay between C1-inhibitor and group IIA secreted phospholipase A(2) impairs their respective function.
  8. SerpinG1: A Novel Biomarker Associated With Poor Coronary Collateral in Patients With Stable Coronary Disease and Chronic Total Occlusion. Title: SerpinG1: A Novel Biomarker Associated With Poor Coronary Collateral in Patients With Stable Coronary Disease and Chronic Total Occlusion.
  9. SARS-CoV-2 Infection and C1-Esterase Inhibitor: Camouflage Pattern and New Perspective. Title: SARS-CoV-2 Infection and C1-Esterase Inhibitor: Camouflage Pattern and New Perspective.
  10. C1-inhibitor influence on platelet activation by thrombin receptors agonists. Title: C1-inhibitor influence on platelet activation by thrombin receptors agonists.
Submit: New GeneRIF Correction See all GeneRIFs (154)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 CatalogEBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.EBI GWAS CatalogEBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

  • C1NH (e-PCR)
    • UniSTS:39459
  • GDB:197595 (e-PCR)
    • UniSTS:155951
  • RH11451 (e-PCR)
    • UniSTS:72018
  • D11S3986 (e-PCR)
    • UniSTS:39082
  • G62069 (e-PCR)
    • UniSTS:139189
  • STS-X54486 (e-PCR)
    • UniSTS:82160
  • SHGC-6014 (e-PCR)
    • UniSTS:167673

Homology

  • NCBI Orthologs
    • Orthologs from OrthoDB

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI Inferred from Physical Interactionmore info PubMed 
enables serine-type endopeptidase inhibitor activity IBA Inferred from Biological aspect of Ancestormore info  
enables serine-type endopeptidase inhibitor activity IDA Inferred from Direct Assaymore info PubMed 
Process Evidence Code Pubs
involved_in blood circulation TAS Traceable Author Statementmore info PubMed 
involved_in blood coagulation IEA Inferred from Electronic Annotationmore info  
involved_in complement activation, classical pathway IEA Inferred from Electronic Annotationmore info  
involved_in fibrinolysis IEA Inferred from Electronic Annotationmore info  
involved_in innate immune response IEA Inferred from Electronic Annotationmore info  
involved_in negative regulation of complement activation, lectin pathway IDA Inferred from Direct Assaymore info PubMed 
involved_in negative regulation of endopeptidase activity IBA Inferred from Biological aspect of Ancestormore info  
Component Evidence Code Pubs
located_in blood microparticle HDA more info PubMed 
located_in collagen-containing extracellular matrix HDA more info PubMed 
located_in endoplasmic reticulum lumen TAS Traceable Author Statementmore info  
located_in extracellular exosome HDA more info PubMed 
located_in extracellular region NAS Non-traceable Author Statementmore info PubMed 
located_in extracellular region TAS Traceable Author Statementmore info  
located_in extracellular space HDA more info PubMed 
is_active_in extracellular space IBA Inferred from Biological aspect of Ancestormore info  
located_in platelet alpha granule lumen TAS Traceable Author Statementmore info  

General protein information

Go to the top of the page Help 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)

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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_000062.3 → NP_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 cd02050Location:145 → 495 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_001032295.2 → NP_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 cd02050Location:145 → 495 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_2024_08

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)
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Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05155.2 GenPept UniProtKB/Swiss-Prot:P05155
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Locus-specific Databases

  • SERPING1 database
  • SERPING1base: Mutation registry for Hereditary angioedema

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
  • Interologous Interaction Database
    • Interologous Interaction Database
  • MilliporeSigma
    • Serping1 products
Medical
  • MedlinePlus Health Information
    • SERPING1 gene
Molecular Biology Databases
  • Bgee database
    • SERPING1 gene expression
  • BioGPS
    • BioGPS
  • BioGRID Open Repository of CRISPR Screens (ORCS)
    • BioGRID CRISPR Screen Phenotypes (18 hits/1267 screens)
  • Domain Mapping of Disease Mutations
    • SERPING1
  • Eukaryotic Promoter Database
    • SERPING1_1
  • GlyGen glycoinformatics resource
    • GlyGen glycoinformatics resource
  • Human Gene Mutation Database
    • Human Gene Mutation Database
  • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
    • Human eFP Browser
  • Ingenuity Pathways Analysis
    • Ingenuity Pathways Analysis
  • InnateDB
    • InnateDB
  • InterMine
    • InterMine
  • Kyoto Encyclopedia of Genes and Genomes
    • Kyoto Encyclopedia of Genes and Genomes
  • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
    • OMA Browser: Orthologous MAtrix
  • OrthoDB catalog of orthologs
    • Orthologs
  • Pharmacogenomics Knowledge Base
    • Annotated Pharmacogenomic Information for SERPING1 [PharmGKB]
  • PhosphoSitePlus
    • PhosphoSitePlus® - comprehensive post-translational modification resource
  • The Gene Wiki
    • The Gene Wiki
  • The Weizmann Institute of Science GeneCards and MalaCards databases
    • GeneCard for SERPING1
Research Materials
  • Addgene Non-profit plasmid repository
    • Get Plasmids - Addgene
  • Bio-Techne
    • Serpin G1/C1 Inhibitor Antibodies
    • Serpin G1/C1 Inhibitor ELISA Kits
    • Serpin G1/C1 Inhibitor Proteins
  • Creative Biogene
    • serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • ExactAntigen/Labome
    • reagents
    • reagent review
  • GenScript latest version of gene cDNA ORF Clone
    • GenScript latest version of gene cDNA ORF Clone
  • GeneCopoeia Inc.
    • Order shRNA clones
    • Order promoter clone
    • Order full-length ORF clone
  • GeneTex Inc
    • Find Quality Antibodies
    • Find Recombinant Proteins and Peptides
  • Kazusa DNA Research Institute
    • Kazusa DNA Research Institute
  • OriGene
    • Order SERPING1 cDNA clone/Protein/Antibody/RNAi
Tools
  • GeneMANIA
    • GeneMANIA
Miscellaneous
  • Reactome
    • Reactome Event:Disease
    • Reactome Event:Hemostasis
    • Reactome Entity:P05155
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Supplemental Content

Table of contents

  • Summary
  • Genomic context
  • Genomic regions, transcripts, and products
  • Expression
  • Bibliography
  • Phenotypes
  • Variation
  • HIV-1 interactions
  • Pathways from PubChem
  • Interactions
  • General gene information Markers, Homology, Gene Ontology
  • General protein information
  • NCBI Reference Sequences (RefSeq)
  • Related sequences
  • Additional links Locus-specific Databases

Genome Browsers

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Related information

  • Order cDNA clone Order cDNA clone
  • 3D structures 3D structure of a gene
  • BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
  • BioAssay, by Gene target PubChem BioAssays done on the Gene target
  • BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
  • BioProjects BioProjects related to a gene
  • BioSystems BioSystems
  • CCDS Link to CCDS
  • ClinVar Related medical variations
  • Conserved Domains Related CDD
  • dbVar Link from Gene to dbVar
  • Full text in PMC PMC links
  • Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
  • Functional Class Functional class of the sequence domain architecture
  • GAP GAP Links
  • Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
  • Genome Related Genome
  • GEO Profiles Related GEO
  • GTR Tests for this gene in the NIH Genetic Testing Registry
  • HomoloGene Related HomoloGene
  • MedGen Related information in MedGen
  • Nucleotide Link to related Nucleotide entry
  • OMIM Link to related OMIM entry
  • Probe Related Probe entry
  • Protein Link to related protein entry
  • PubChem Compound PubChem Compounds
  • PubChem Substance PubChem Substances
  • PubMed Link to related PubMed entry
  • PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
  • PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
  • PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
  • RefSeq Proteins Link to Protein RefSeqs
  • RefSeq RNAs Link to Nucleotide RefSeq RNAs
  • RefSeqGene Link to Nucleotide RefSeqGenes
  • Related gene-specific medical variations Related medical variations
  • SNP Related SNP records
  • Taxonomy Link to related taxonomy entry
  • Variation Viewer Related Variants

Links to other resources

  • HGNC
  • Ensembl
  • AllianceGenome
  • AceView
  • SERPING1 database
  • SERPING1base: Mutation registry for Hereditary angioedema
  • UCSC
  • MGC
  • HuGE Navigator
  • KEGG
  • Reactome

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