Gene Gene information from NCBI Gene database.
Entrez ID 710
Gene name Serpin family G member 1
Gene symbol SERPING1
Synonyms (NCBI Gene)
C1INC1INHC1NHHAE1HAE2
Chromosome 11
Chromosome location 11q12.1
Summary 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.
57
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.
311
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001869 Process Negative regulation of complement activation, lectin pathway IDA 10946292
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IDA 11527969
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 10570951, 10946292, 16237761, 22046132, 22483117, 25359215, 25910212, 28484054, 28742139, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606860 1228 ENSG00000149131
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Angioedema Likely pathogenic; Pathogenic rs1554995255, rs2495426328, rs2135308859, rs2495426787, rs2495425264, rs2135324767, rs2495452187, rs978962357, rs1590821401 RCV004579542
RCV004595711
RCV004584248
RCV004584270
RCV004595826
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
C1 inhibitor deficiency Pathogenic rs2135328243, rs1590822296 RCV002208779
RCV005049683
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary angioedema type 1 Likely pathogenic; Pathogenic rs2135318127, rs1945480328, rs281875174, rs2135308831, rs2135311324, rs2135311222, rs2135328208, rs2135328243, rs2135308550, rs2135327898, rs2495440974, rs28940870, rs1554996819, rs1554996817, rs112565881
View all (117 more)
RCV001374628
RCV004671425
RCV004587197
RCV004587198
RCV004577957
View all (134 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary angioedema with C1Inh deficiency Pathogenic; Likely pathogenic rs2135307959, rs2135311344, rs2135311395, rs2135317558, rs2135317617, rs2135317696, rs2135317718, rs2135318252, rs2135318269, rs2135318339, rs2135318396, rs2135324476, rs2135324565, rs2135324578, rs2135324746
View all (19 more)
RCV002221642
RCV002221643
RCV002221644
RCV002221645
RCV002221646
View all (29 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANGIOEDEMA, HEREDITARY, 1 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGIOEDEMAS, HEREDITARY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired angioedema Angioedema BEFREE 15356535, 16630950, 16835976, 17547847, 18204284, 19331715, 23137231, 23406939, 27113957, 27501129, 2926086, 30073422, 31397881, 8856187, 9777420
★☆☆☆☆
Found in Text Mining only
Acquired angioedema Angioedema CTD_human_DG 23406939, 9734886
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance BEFREE 17068406
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31058156
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 20231622 Associate
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26795750
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 18842294, 19169411, 19607829, 20062564, 20122735, 20576771, 20606025, 21526158, 21852020, 22594510, 22618592, 25352749, 25800435
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 12925575, 21115126
★☆☆☆☆
Found in Text Mining only
Angioedema Angioedema Pubtator 15356535, 25401373, 36787826, 6976242 Associate
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Angioedema Angioedema Pubtator 23661661 Inhibit
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)