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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
  • 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 Platelet activation, signaling and aggregation and Pertussis. 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

No data available for 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
- Elite enhancer/Elite enhancer-gene association

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

ENSRs around SERPING1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SERPING1 Gene

Chromosome:
11
Start:
57,597,387 bp from pter
End:
57,614,853 bp from pter
Size:
17,467 bases
Orientation:
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:
    P05155-IC1_HUMAN
    Recommended name:
    Plasma protease C1 inhibitor
    Protein Accession:
    P05155
    Secondary Accessions:
    • A6NMU0
    • A8KAI9
    • B2R6L5
    • B4E1F0
    • B4E1H2
    • Q16304
    • Q547W3
    • Q59EI5
    • Q7Z455
    • Q96FE0
    • Q9UC49
    • Q9UCF9

    Protein attributes for SERPING1 Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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 Asn 25, Thr 47, Thr 48, Ser 64, Asn 69, Thr 71, Asn 81, Thr 83, Thr 88, Thr 92, Thr 96, Asn 238, Asn 253, Asn 272, and Asn 352
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SERPING1 (Serpin G1/C1 Inhibitor)

No data available for DME Specific Peptides for SERPING1 Gene

Domains & Families for SERPING1 Gene

Gene Families for SERPING1 Gene

Protein Domains for SERPING1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P05155

UniProtKB/Swiss-Prot:

IC1_HUMAN :
  • Belongs to the serpin family.
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.

Gene Ontology (GO) - Molecular Function for SERPING1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IDA 11527969
GO:0005515 protein binding IPI 10570951
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPING1 Gene 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 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

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:0002576 platelet degranulation TAS --
GO:0006958 complement activation, classical pathway IEA --
GO:0007568 aging IEA --
GO:0007597 blood coagulation, intrinsic pathway TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
C1-INH Investigational Pharma inhibitor, Target 0
RECOMBINANT HUMAN C1 ESTERASE INHIBITOR Pharma 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: -
SP9:

Relevant External Links for SERPING1 Gene

GeneLoc Exon Structure for
SERPING1
ECgene alternative splicing isoforms for
SERPING1

Expression for SERPING1 Gene

mRNA expression in normal human tissues 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:

SERPING1

SOURCE GeneReport for Unigene cluster for SERPING1 Gene:

Hs.384598
genes like me logo Genes that share expression patterns with SERPING1: view

Primer Products

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
cow
(Bos Taurus)
Mammalia SERPING1 34
  • 74.19 (n)
  • 63.72 (a)
SERPING1 35
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPING1 34
  • 75.1 (n)
  • 66.36 (a)
SERPING1 35
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serping1 34
  • 78.05 (n)
  • 72.02 (a)
Serping1 16
Serping1 35
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SERPING1 34
  • 99.26 (n)
  • 98.79 (a)
SERPING1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serping1 34
  • 78.05 (n)
  • 72.02 (a)
oppossum
(Monodelphis domestica)
Mammalia SERPING1 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPING1 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPING1 34
  • 53.89 (n)
  • 41.62 (a)
SERPING1 35
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPING1 35
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii serping1 34
  • 49.6 (n)
  • 35.47 (a)
serping1 35
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Spn27A 35
  • 19 (a)
ManyToMany
Spn5 35
  • 21 (a)
ManyToMany
Spn88Eb 35
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
ManyToMany
CSA.10120 35
  • 21 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SERPING1 (if available)
TreeFam:
Gene Tree for SERPING1 (if available)

Paralogs for SERPING1 Gene

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

IC1_HUMAN-P05155
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
VAR_007013 Hereditary angioedema (HAE)
rs121907949 Hereditary angioedema (HAE) 57,614,439(+) TGGGG(A/T)GGAGG reference, missense
VAR_007015 Hereditary angioedema (HAE)
rs121907947 Hereditary angioedema (HAE) 57,614,450(+) CGGCT(A/G)CAGCC reference, missense
VAR_007017 Hereditary angioedema (HAE)

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)

Relevant External Links for SERPING1 Gene

Human Gene Mutation Database (HGMD)
SERPING1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPING1

Disorders for SERPING1 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

IC1_HUMAN
  • 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)
SERPING1
Human Genome Epidemiology (HuGE) Navigator
SERPING1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPING1
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 I.G.A. … Eldering E. (J. Biol. Chem. 2003) 3 4 22 65
  2. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. (PMID: 14635117) Kalmar L. … Tordai A. (Hum. Mutat. 2003) 3 4 22 65
  3. Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. (PMID: 8172583) Davis A.E. III … Cicardi M. (Behring Inst. Mitt. 1993) 3 4 22 65
  4. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. (PMID: 2026152) Carter P.E. … Fothergill J.E. (Eur. J. Biochem. 1991) 2 3 4 65
  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. (Ann. Hum. Genet. 2014) 3 4 65

Products for SERPING1 Gene

Sources for SERPING1 Gene

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