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SERPING1 (serpin family G member 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
710
Gene nameGene Name - the full gene name approved by the HGNC.
Serpin family G member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SERPING1
SynonymsGene synonyms aliases
C1IN, C1INH, C1NH, HAE1, HAE2
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
SummarySummary of gene provided in NCBI Entrez Gene.
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 i
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs28940870 C>A,T Pathogenic, not-provided Coding sequence variant, missense variant
rs112565881 G>A,T Pathogenic Splice donor variant
rs121907947 G>A Pathogenic Coding sequence variant, missense variant
rs121907948 G>A,C,T Not-provided, pathogenic Coding sequence variant, missense variant
rs121907949 T>A Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018847 hsa-miR-335-5p Microarray 18185580
MIRT611746 hsa-miR-519d-5p HITS-CLIP 19536157
MIRT611745 hsa-miR-5695 HITS-CLIP 19536157
MIRT611744 hsa-miR-873-3p HITS-CLIP 19536157
MIRT611743 hsa-miR-515-5p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001869 Process Negative regulation of complement activation, lectin pathway IDA 10946292
GO:0002576 Process Platelet degranulation TAS
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA 21873635
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 11527969
GO:0005515 Function Protein binding IPI 10570951, 10946292, 16237761, 22046132, 22483117, 25910212
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P05155
Protein name Plasma protease C1 inhibitor (C1 Inh) (C1Inh) (C1 esterase inhibitor) (C1-inhibiting factor) (Serpin G1)
Protein function Serine protease inhibitor, which acrs as a regulator of the classical complement pathway (PubMed:10946292, PubMed:11527969, PubMed:3458172, PubMed:6416294). Forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases (P
PDB 2OAY , 5DU3 , 5DUQ , 7AKV , 8W18
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin
144 → 498
Serpin (serine protease inhibitor)
 Domain
Sequence
Sequence length 500
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Complement and coagulation cascades
Pertussis 		  Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Regulation of Complement cascade
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Angioedema Angioedemas, Hereditary, Hereditary Angioedema Type II, Hereditary Angioedema Types I and II, Hereditary Angioedema Type I, Acquired angioedema, Hereditary angioedema type 1, Hereditary angioedema type 2 rs28940870, rs1554996819, rs1554996817, rs112565881, rs2135304804, rs121907951, rs281875174, rs281875178, rs281875168, rs281875170, rs281875171, rs1554995255, rs1554995860, rs886041353, rs978962357, rs1554995774, rs763451792, rs1554995271, rs1554996833, rs1554995260, rs1565169419, rs1565173405, rs1565168898, rs1590822296, rs1565169621, rs1565170287, rs1565170364, rs1565171906, rs1565173309, rs1565174105, rs922149386, rs1590822719, rs1590821401, rs1590822588, rs1590822739, rs1590823884, rs1590826571, rs1590829609, rs1590829616, rs1590829763, rs1590831385, rs1590831432, rs956390201, rs1590831545, rs1590829685, rs778625408, rs1582955358, rs1599142041, rs1945310324, rs1945307391, rs1945416520 9734886, 23634741, 23406939, 7883978, 19477491, 23866957, 23844784, 24456027, 18387221, 15806011, 1644161, 1644161, 15806011, 18387221, 18387221, 24456027, 2118657, 7883978, 29753808, 8172583, 28194776, 1451784, 1644161, 7814636, 12773530, 8755917, 3178731, 22994404, 2365061, 2296585, 15806011, 14635117, 1363816, 8529136, 16409206, 9734886, 23406939
Complement component deficiency Complement Component 4, Partial Deficiency Of, Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 7883978
Hereditary c1 esterase inhibitor deficiency Hereditary C1 esterase inhibitor deficiency - deficient factor, Hereditary C1 esterase inhibitor deficiency - dysfunctional factor rs121907947, rs28940870, rs121907949, rs606231141 24456027
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 27935865
Unknown
Disease name Disease term dbSNP ID References
C1 inhibitor deficiency C1 inhibitor deficiency
Dermatographic urticaria Dermatographic urticaria
Dysphagia Deglutition Disorders
Liver cirrhosis Liver Cirrhosis 26396155

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