Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SERPING1 Gene

Aliases for SERPING1 Gene

  • Serpin Family G Member 1 2 3 5
  • Serpin Peptidase Inhibitor, Clade G (C1 Inhibitor), Member 1 2 3
  • Plasma Protease C1 Inhibitor 2 3
  • C1 Esterase Inhibitor 3 4
  • C1-Inhibiting Factor 3 4
  • Serpin G1 3 4
  • C1INH 3 4
  • C1NH 3 4
  • C1IN 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade G (C1 Inhibitor), Member 1, (Angioedema, Hereditary) 2
  • Serine/Cysteine Proteinase Inhibitor Clade G Member 1 3
  • Serpin Peptidase Inhibitor Clade G Member 1 3
  • Complement Component 1 Inhibitor 3
  • Angioedema, Hereditary 2
  • C1 Inh 4
  • HAE1 3
  • HAE2 3

External Ids for SERPING1 Gene

Previous HGNC Symbols for SERPING1 Gene

  • C1NH

Previous GeneCards Identifiers for SERPING1 Gene

  • GC11P059759
  • GC11P058878
  • GC11P057140
  • GC11P057121
  • GC11P057364
  • GC11P053713

Summaries for SERPING1 Gene

Entrez Gene Summary for SERPING1 Gene

  • 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]

GeneCards Summary for SERPING1 Gene

SERPING1 (Serpin Family G Member 1) is a Protein Coding gene. Diseases associated with SERPING1 include Angioedema, Hereditary, Types I And Ii and Complement Component 4, Partial Deficiency Of. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Cell adhesion_Plasmin signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINF2.

UniProtKB/Swiss-Prot for SERPING1 Gene

  • Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.

Gene Wiki entry for SERPING1 Gene

Additional gene information for SERPING1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPING1 Gene

Genomics for SERPING1 Gene

Regulatory Elements for SERPING1 Gene

Enhancers for SERPING1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H057637 1.6 FANTOM5 ENCODE dbSUPER 11.5 +42.1 42128 4.5 HDGF ARID4B SIN3A GLI4 YY1 ETS1 SLC30A9 GLIS2 ZNF143 SP3 UBE2L6 RPS4XP13 SERPING1 MED19 TIMM10 ENSG00000254602 PRG3 YPEL4 OR9Q1 OR9I1
GH11H057434 1.5 Ensembl ENCODE dbSUPER 9.4 -162.5 -162490 0.8 FOXA2 ATF1 ARID4B SIN3A YY1 TCF12 ZNF766 FOS SP5 REST RTN4RL2 TIMM10 SSRP1 P2RX3 SLC43A1 SERPING1 SLC43A3 RNA5SP341
GH11H057596 1.1 FANTOM5 ENCODE 11.4 +0.6 624 2.9 TAF1 MAX CEBPG RAD21 YY1 ZFHX2 GLIS2 POLR2A NR2F6 EZH2 SERPING1 SMTNL1 ENSG00000254602 MED19 SLC43A1 UBE2L6 RTN4RL2 GC11P057633
GH11H057529 1.1 ENCODE 10.4 -66.7 -66698 2.5 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SSRP1 CLP1 MIR130A UBE2L6 RPS4XP13 ENSG00000254602 YPEL4 P2RX3 RTN4RL2 RN7SKP259
GH11H057679 0.9 ENCODE dbSUPER 9.7 +83.2 83158 2.2 PKNOX1 MTA2 TAL1 DPF2 GABPA FOSL1 TCF12 JUND NCOR1 KLF16 YPEL4 MED19 CLP1 ENSG00000254602 CTNND1 BTBD18 SERPING1 SLC43A1 ENSG00000255299 GC11P057680
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPING1 on UCSC Golden Path with GeneCards custom track

Promoters for SERPING1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039908 613 801 TAF1 MAX RAD21 YY1 ZFHX2 GLIS2 POLR2A HNF4G NR2F6 EGR2

Transcription factor binding sites by QIAGEN in the SERPING1 gene promoter:

Genomic Locations for SERPING1 Gene

Genomic Locations for SERPING1 Gene
17,467 bases
Plus strand

Genomic View for SERPING1 Gene

Genes around SERPING1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPING1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPING1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPING1 Gene

Proteins for SERPING1 Gene

  • Protein details for SERPING1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Plasma protease C1 inhibitor
    Protein Accession:
    Secondary Accessions:
    • A6NMU0
    • A8KAI9
    • B2R6L5
    • B4E1F0
    • B4E1H2
    • Q16304
    • Q547W3
    • Q59EI5
    • Q7Z455
    • Q96FE0
    • Q9UC49
    • Q9UCF9

    Protein attributes for SERPING1 Gene

    500 amino acids
    Molecular mass:
    55154 Da
    Quaternary structure:
    • Binds to E.coli stcE which allows localization of SERPING1 to cell membranes thus protecting the bacteria against complement-mediated lysis. Interacts with MASP1.
    • Sequence=AAA53096.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPING1 Gene

    Alternative splice isoforms for SERPING1 Gene


neXtProt entry for SERPING1 Gene

Post-translational modifications for SERPING1 Gene

  • Can be proteolytically cleaved by E.coli stcE.
  • Highly glycosylated (49%) with N- and O-glycosylation. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor).
  • Glycosylation at Asn25, Thr47, Thr48, Ser64, Asn69, isoforms=2, 371, Asn81, isoforms=2, 383, Thr88, Thr92, Thr96, Asn238, Asn253, Asn272, and Asn352
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SERPING1 Gene

Domains & Families for SERPING1 Gene

Gene Families for SERPING1 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SERPING1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the serpin family.
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPING1: view

Function for SERPING1 Gene

Molecular function for SERPING1 Gene

UniProtKB/Swiss-Prot Function:
Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.

Phenotypes From GWAS Catalog for SERPING1 Gene

Gene Ontology (GO) - Molecular Function for SERPING1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IDA,IEA 11527969
GO:0005515 protein binding IPI 10570951
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPING1: view
genes like me logo Genes that share phenotypes with SERPING1: view

Human Phenotype Ontology for SERPING1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPING1 Gene

Localization for SERPING1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPING1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPING1 gene
Compartment Confidence
extracellular 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SERPING1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 16502470
GO:0031093 platelet alpha granule lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with SERPING1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPING1 Gene

Pathways & Interactions for SERPING1 Gene

genes like me logo Genes that share pathways with SERPING1: view

Gene Ontology (GO) - Biological Process for SERPING1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001869 negative regulation of complement activation, lectin pathway IDA 10946292
GO:0002376 immune system process IEA --
GO:0002576 platelet degranulation TAS --
GO:0006958 complement activation, classical pathway IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with SERPING1: view

No data available for SIGNOR curated interactions for SERPING1 Gene

Drugs & Compounds for SERPING1 Gene

(7) Drugs for SERPING1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
C1-INH Investigational Pharma inhibitor, Target 0
genes like me logo Genes that share compounds with SERPING1: view

Transcripts for SERPING1 Gene

Unigene Clusters for SERPING1 Gene

Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPING1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b
SP1: - - - - -
SP2: - - - - - - - -
SP3: -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - -
SP7: - - -
SP8: -

Relevant External Links for SERPING1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERPING1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPING1 Gene

mRNA differential expression in normal tissues according to GTEx for SERPING1 Gene

This gene is overexpressed in Liver (x7.8).

Protein differential expression in normal tissues from HIPED for SERPING1 Gene

This gene is overexpressed in Synovial fluid (23.3), Plasma (9.2), and Monocytes (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SERPING1 Gene

Protein tissue co-expression partners for SERPING1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPING1 Gene:


SOURCE GeneReport for Unigene cluster for SERPING1 Gene:


Evidence on tissue expression from TISSUES for SERPING1 Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Heart(4.8)
  • Blood(4.6)
  • Lung(4.4)
  • Bone marrow(4.3)
  • Eye(4)
  • Intestine(3.8)
  • Stomach(3.5)
  • Skin(3.1)
  • Kidney(2.9)
  • Muscle(2.8)
  • Pancreas(2.7)
  • Gall bladder(2.6)
  • Spleen(2.4)
  • Adrenal gland(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPING1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • ear
  • epiglottis
  • eye
  • face
  • head
  • larynx
  • lip
  • meninges
  • mouth
  • neck
  • pharynx
  • scalp
  • thyroid
  • tongue
  • vocal cord
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SERPING1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SERPING1 Gene

Orthologs for SERPING1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPING1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SERPING1 33 34
  • 99.26 (n)
(Mus musculus)
Mammalia Serping1 33 16 34
  • 78.05 (n)
(Rattus norvegicus)
Mammalia Serping1 33
  • 78.05 (n)
(Canis familiaris)
Mammalia SERPING1 33 34
  • 75.1 (n)
(Bos Taurus)
Mammalia SERPING1 33 34
  • 74.19 (n)
(Ornithorhynchus anatinus)
Mammalia SERPING1 34
  • 60 (a)
(Monodelphis domestica)
Mammalia SERPING1 34
  • 55 (a)
(Gallus gallus)
Aves SERPING1 33 34
  • 53.89 (n)
(Anolis carolinensis)
Reptilia SERPING1 34
  • 38 (a)
(Danio rerio)
Actinopterygii serping1 33 34
  • 49.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spn88Eb 34
  • 22 (a)
Spn5 34
  • 21 (a)
Spn27A 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
CSA.10120 34
  • 21 (a)
Species where no ortholog for SERPING1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERPING1 Gene

Gene Tree for SERPING1 (if available)
Gene Tree for SERPING1 (if available)

Paralogs for SERPING1 Gene

genes like me logo Genes that share paralogs with SERPING1: view

Variants for SERPING1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPING1 Gene

Chymotrypsin uses Ala-465 as its reactive site in normal plasma protease C1 inhibitor, and His-466 as its reactive site in the variant His-466.

Sequence variations from dbSNP and Humsavar for SERPING1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121907947 Pathogenic, Hereditary angioedema (HAE) [MIM:106100] 57,614,450(+) CGGCT(A/G)CAGCC reference, missense
rs121907948 Pathogenic, Hereditary angioedema (HAE) [MIM:106100], Hereditary angioedema (HAE) [MIM:106100] 57,614,475(+) GGCCC(A/G/T)CACCC reference, missense
rs121907949 Pathogenic, Hereditary angioedema (HAE) [MIM:106100] 57,614,439(+) TGGGG(A/T)GGAGG reference, missense
rs121907950 Pathogenic, Hereditary angioedema (HAE) [MIM:106100] 57,614,472(+) TGTGG(C/T)CCGCA reference, missense
rs200534715 untested, Hereditary angioedema (HAE) [MIM:106100] 57,600,179(+) AGCCC(A/G)CTACT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SERPING1 Gene

Variant ID Type Subtype PubMed ID
nsv832163 CNV gain 17160897
nsv1126294 CNV deletion 24896259

Variation tolerance for SERPING1 Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.31; 81.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPING1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for SERPING1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SERPING1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
angioedema, hereditary, types i and ii
  • hereditary angioedema
complement component 4, partial deficiency of
  • c1 inhibitor deficiency
hereditary angioedema
  • hane
  • angioneurotic edema
c1 inhibitor deficiency
  • quincke edema
- elite association - COSMIC cancer census association via MalaCards


  • Hereditary angioedema (HAE) [MIM:106100]: An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. {ECO:0000269 PubMed:12773530, ECO:0000269 PubMed:1363816, ECO:0000269 PubMed:1451784, ECO:0000269 PubMed:14635117, ECO:0000269 PubMed:16409206, ECO:0000269 PubMed:2118657, ECO:0000269 PubMed:2296585, ECO:0000269 PubMed:22994404, ECO:0000269 PubMed:2365061, ECO:0000269 PubMed:24456027, ECO:0000269 PubMed:3178731, ECO:0000269 PubMed:7814636, ECO:0000269 PubMed:7883978, ECO:0000269 PubMed:8172583, ECO:0000269 PubMed:8529136, ECO:0000269 PubMed:8755917, ECO:0000269 Ref.41}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPING1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SERPING1: view

No data available for Genatlas for SERPING1 Gene

Publications for SERPING1 Gene

  1. The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. (PMID: 12773530) Bos IG … Eldering E (The Journal of biological chemistry 2003) 3 4 22 60
  2. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. (PMID: 14635117) Kalmár L … Tordai A (Human mutation 2003) 3 4 22 60
  3. Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. (PMID: 8172583) Davis AE … Cicardi M (Behring Institute Mitteilungen 1993) 3 4 22 60
  4. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. (PMID: 2026152) Carter PE … Fothergill JE (European journal of biochemistry 1991) 2 3 4 60
  5. Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. (PMID: 24456027) Bafunno V … Triggiani M (Annals of human genetics 2014) 3 4 60

Products for SERPING1 Gene

Sources for SERPING1 Gene

Loading form....