Gene Gene information from NCBI Gene database.
Entrez ID 716
Gene name Complement C1s
Gene symbol C1S
Synonyms (NCBI Gene)
EDSPD2
Chromosome 12
Chromosome location 12p13.31
Summary This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in thi
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs121909582 C>T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs886040974 TGT>- Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, inframe indel
rs886040975 T>C Pathogenic-likely-pathogenic, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
207
miRTarBase ID miRNA Experiments Reference
MIRT018885 hsa-miR-335-5p Microarray 18185580
MIRT609892 hsa-miR-548s HITS-CLIP 23824327
MIRT609891 hsa-miR-4701-5p HITS-CLIP 23824327
MIRT609890 hsa-miR-588 HITS-CLIP 23824327
MIRT609889 hsa-miR-4435 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001905 Process Activation of membrane attack complex IDA 18204047
GO:0002376 Process Immune system process IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 70787, 417728, 467643, 6282646, 6319179, 6906228, 9422791, 11527969, 16169853, 22949645
GO:0004252 Function Serine-type endopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120580 1247 ENSG00000182326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09871
Protein name Complement C1s subcomponent (EC 3.4.21.42) (C1 esterase) (Complement component 1 subcomponent s) [Cleaved into: Complement C1s subcomponent heavy chain (Complement C1s subcomponent chain A); Complement C1s subcomponent light chain (Complement C1s subcompo
Protein function Component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive
PDB 1ELV , 1NZI , 4J1Y , 4LMF , 4LOR , 4LOS , 4LOT , 6F1C , 6F1H , 8GMN , 8TYP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 16 127 CUB domain Domain
PF14670 FXa_inhibition 135 171 Domain
PF00431 CUB 175 287 CUB domain Domain
PF00084 Sushi 294 354 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 359 421 Sushi repeat (SCR repeat) Domain
PF00089 Trypsin 438 675 Trypsin Domain
Sequence
Sequence length 688
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades
Pertussis
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus
  Initial triggering of complement
Classical antibody-mediated complement activation
Regulation of Complement cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
77
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1S-related disorder Likely pathogenic rs2539603566 RCV003899409
Complement component C1s deficiency Likely pathogenic; Pathogenic rs2539608457, rs781856506, rs1391790248, rs2135727106 RCV002283877
RCV003329456
RCV005008679
RCV000018596
Ehlers-Danlos syndrome, periodontal type 1 Pathogenic rs886040974, rs886040975 RCV000417046
RCV000417062
Ehlers-Danlos syndrome, periodontal type 2 Pathogenic; Likely pathogenic rs781856506, rs1391790248, rs886040974, rs886040975, rs2539591419 RCV004784089
RCV005008679
RCV000258063
RCV000258062
RCV003444465
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Uncertain significance rs2539602529 RCV005926597
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs1818735783 RCV004558085
Hereditary angioedema with normal C1Inh not provided rs1591575004 RCV001027420
Malignant tumor of esophagus Uncertain significance; Conflicting classifications of pathogenicity rs1555161328, rs78523176 RCV005934858
RCV005907323
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26950848, 40037332
Angioedemas Hereditary Associate 2026621, 3965500
Bipolar Disorder Associate 39616737
Blood Coagulation Disorders Associate 27613243
Carcinoma Squamous Cell Associate 31049937
Chronic Disease Associate 35218958
Complement Component C1s Deficiency Associate 11390518
Complement Component C1s Deficiency Inhibit 37209807
Coronary Artery Disease Associate 38049831
Dystonic Disorders Associate 31049937