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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
  • 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
  • C1INH 3
  • C1Inh 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, Type I and Complement Component 4, Partial Deficiency Of. Among its related pathways are Complement and coagulation cascades and Complement Pathway. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for SERPING1 Gene

Promoters and enhancers for SERPING1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J057596 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 661.4 +0.6 624 2.9 TFAP4 TAF1 MAX SIN3A CEBPG RAD21 YY1 ZNF335 ZFHX2 GLIS2 SERPING1 SMTNL1 ENSG00000254602 MED19 SLC43A1 UBE2L6 RTN4RL2 GC11P057633
GH11J057637 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +42.1 42127 4.5 HDGF FOXA2 ARID4B SIN3A GLI4 ZNF48 YY1 ETS1 SLC30A9 GLIS2 ENSG00000254602 MIR130A CLP1 UBE2L6 RPS4XP13 SERPING1 MED19 TIMM10 PRG3 YPEL4
GH11J057529 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.4 -66.7 -66698 2.5 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 PIR39300 PIR40820 TIMM10 SSRP1 CLP1 MIR130A UBE2L6 RPS4XP13 ENSG00000254602 YPEL4
GH11J057679 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 9.7 +83.2 83158 2.2 PKNOX1 TEAD4 TAL1 FOSL1 TCF12 NCOR1 HNF4G CBFA2T2 FOS MTA2 GC11P057680 ZDHHC5 YPEL4 MED19 CLP1 ENSG00000254602 BTBD18 CTNND1 SERPING1 SLC43A1
GH11J057434 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.4 -162.5 -162489 0.8 FOXA2 ARID4B SIN3A ETS1 YY1 TCF12 ZNF766 FOS NFKBIZ RXRA RTN4RL2 TIMM10 P2RX3 SSRP1 SLC43A1 SERPING1 SLC43A3 RNA5SP341
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPING1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPING1 gene promoter:
  • STAT1
  • POU2F1

Genomic Locations for SERPING1 Gene

Genomic Locations for SERPING1 Gene
17,467 bases
Plus strand
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

  • 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).
  • Can be proteolytically cleaved by E.coli stcE.
  • Glycosylation at posLast=352352, posLast=272272, posLast=253253, isoforms=2, 3238, isoforms=2, 396, posLast=9292, posLast=8888, posLast=8383, posLast=8181, isoforms=2, 371, posLast=6969, posLast=6464, posLast=4848, posLast=4747, and posLast=2525
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • IC1_HUMAN (749)

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 IEA,IDA 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

  • Taconic Biosciences Mouse Models for SERPING1

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 IBA,IEA --
GO:0031093 platelet alpha granule lumen TAS --
GO:0070062 extracellular exosome HDA 19056867
GO:0072562 blood microparticle HDA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
C1-INH Investigational Pharma inhibitor, Target 0
PPL-100 Investigational Pharma 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 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(3)
  • Muscle(2.8)
  • Pancreas(2.7)
  • Gall bladder(2.6)
  • Spleen(2.5)
  • 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 34 33
  • 99.26 (n)
(Mus musculus)
Mammalia Serping1 16 34 33
  • 78.05 (n)
(Rattus norvegicus)
Mammalia Serping1 33
  • 78.05 (n)
(Canis familiaris)
Mammalia SERPING1 34 33
  • 75.1 (n)
(Bos Taurus)
Mammalia SERPING1 34 33
  • 74.19 (n)
(Ornithorhynchus anatinus)
Mammalia SERPING1 34
  • 60 (a)
(Monodelphis domestica)
Mammalia SERPING1 34
  • 55 (a)
(Gallus gallus)
Aves SERPING1 34 33
  • 53.89 (n)
(Anolis carolinensis)
Reptilia SERPING1 34
  • 38 (a)
(Danio rerio)
Actinopterygii serping1 34 33
  • 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 CSA.10120 34
  • 21 (a)
-- 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)
Evolutionary constrained regions (ECRs) for SERPING1: view image

Paralogs for SERPING1 Gene

Paralogs for SERPING1 Gene

(4) SIMAP similar genes for SERPING1 Gene using alignment to 11 proteins:

  • B4E1F0_HUMAN
  • B4E1H2_HUMAN
  • E9PK97_HUMAN
  • H9KV48_HUMAN
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 Variation AA Info Type
rs112290300 uncertain-significance, Hereditary Angioedema 57,597,721(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs11229062 uncertain-significance, Hereditary Angioedema 57,599,944(+) C/G coding_sequence_variant, missense_variant
rs11229070 likely-benign, Hereditary Angioedema 57,611,905(+) C/T coding_sequence_variant, synonymous_variant
rs112565881 pathogenic, Hereditary angioedema type 1 57,611,937(+) G/A/T splice_donor_variant
rs11546660 likely-benign, Hereditary Angioedema 57,599,994(+) T/C coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information 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, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
angioedema, hereditary, type i
  • hae1
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.

Additional Disease Information for SERPING1

Genetic Association Database
Human Genome Epidemiology 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. 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 58
  2. 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 58
  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 58
  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 58
  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 58

Products for SERPING1 Gene

  • Boster Bio Antibodies for SERPING1
  • Boster Bio ELISA Kits for SERPING1

Sources for SERPING1 Gene

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