C1S Gene Summary [Human]

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 this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]

Details

Type
Protein Coding
Official Symbol
C1S
Official Name
complement C1s [Source:HGNC Symbol;Acc:HGNC:1247]
Ensembl ID
ENSG00000182326
Bio databases IDs NCBI: 716 Ensembl: ENSG00000182326
Aliases complement C1s
Synonyms C1s2, C1sb, complement C1s, complement component 1, s subcomponent 2, EDSPD2, EG317677, Gm5077, r-gsp
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human C1S often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Trypsin-like serine protease
  • Tryp_SPc
  • peptidase
  • serine protease domain
  • linker domain
  • protein binding
  • complement subcomponent C
  • identical protein binding
  • EGF_CA
  • CCP
  • trypsin
  • serine endopeptidase
  • CUB
  • Sushi repeat (SCR repeat)
  • Coagulation Factor Xa inhibitory site
  • SUSHI repeat

Pathways

Biological processes and signaling networks where the C1S gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • endometriosis
  • COVID-19
  • cholangiocarcinoma
  • cholangiocarcinoma cancer
  • Alzheimer disease
  • preeclampsia
  • epithelial cancer
  • cold agglutinin disease
  • coronary artery disease
  • lung carcinoma
regulated by
role in cell
  • molecular cleavage in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Cytoplasm
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human C1S gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • complement activation, classical pathway
  • innate immune response
  • proteolysis

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • blood microparticle
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • calcium ion binding
  • serine-type endopeptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.