Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
710
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family G member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPING1
Synonyms (NCBI Gene) Gene synonyms aliases
C1IN, C1INH, C1NH, HAE1, HAE2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HAE1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
Summary Summary 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606860 1228 ENSG00000149131
Protein
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Complement and coagulation cascades
Pertussis
  Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (36 more)
9734886, 23634741, 23406939, 7883978, 19477491, 23866957, 23844784, 24456027, 18387221, 15806011, 1644161, 2118657, 29753808, 8172583, 28194776
View all (12 more)
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
View all (29 more)
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 term Disease name Evidence References Source
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Neuroticism Neuroticism GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abdominal Pain Associate 27725554, 32066472, 32351099
Acidosis Renal Tubular Associate 33932403
Acquired angioedema Associate 31397881
Adenocarcinoma of Lung Associate 35733175
Adrenocortical Carcinoma Associate 20231622
Airway Obstruction Associate 23661661, 32066472
Angioedema Associate 15356535, 25401373, 36787826, 6976242
Angioedema Inhibit 23661661
Angioedemas Hereditary Associate 11315937, 12773530, 15356535, 1611187, 16617246, 18035804, 18250972, 1885769, 1902490, 20955596, 2318974, 23437219, 24850548, 25053016, 26535898
View all (35 more)
Angioedemas Hereditary Inhibit 15607116, 18460017, 37620742