C1R Gene Summary [Human]

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]

Details

Type
Retained Intron
Official Symbol
C1R
Official Name
complement C1r [Source:HGNC Symbol;Acc:HGNC:1246]
Ensembl ID
ENSG00000159403
Bio databases IDs NCBI: 715 Ensembl: ENSG00000159403
Aliases complement C1r
Synonyms C1ra, complement C1r, COMPLEMENT COMPONENT 1, R SUBCOMPONENT, EDS8, EDSPD1, Similar to c1r
Species
Human, Homo sapiens
OrthologiesRat

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 C1R 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
  • CUB-EGF module pair
  • peptidase
  • serine protease domain
  • calcium ion binding
  • protein binding
  • identical protein binding
  • EGF-like domain
  • EGF_CA
  • CCP
  • trypsin
  • serine endopeptidase
  • CUB
  • serine-type peptidase
  • Sushi repeat (SCR repeat)
  • Coagulation Factor Xa inhibitory site
  • SUSHI repeat

Pathways

Biological processes and signaling networks where the C1R 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
  • epithelial cancer
  • systemic lupus erythematosus
  • angioimmunoblastic T-cell lymphoma
  • T-cell non-Hodgkin disease
  • mature T-cell neoplasia
  • hepatocellular carcinoma
  • liver cancer
  • periodontal type Ehlers-Danlos syndrome
  • Alzheimer disease
  • prostate cancer
regulated by
regulates

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 C1R gene, providing context for its role in the cell.

Biological Process

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

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • extracellular vesicular exosome
  • 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 peptidase activity
  • 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.