Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
716
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C1s
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1S
Synonyms (NCBI Gene) Gene synonyms aliases
EDSPD2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120580 1247 ENSG00000182326
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Complement Component Deficiency complement component c1s deficiency rs2135727106 N/A
Periodontal Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, periodontal type 2, Ehlers-Danlos syndrome, periodontal type 1 rs886040974, rs886040975 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Angioedema Hereditary angioedema with normal C1Inh N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Associations from Text Mining Disease 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