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FLASH GENE
Symbol C1R contributors: mct - updated : 29-11-2016
HGNC name complement component 1, r subcomponent
HGNC id 1246
Corresponding disease
C1R complement component 1R deficiency
Location 12p13.31      Physical location : 7.187.516 - 7.245.043
Genatlas name see C1Q@
EC.number 3.4.21.41
DNA
TYPE functioning gene
SPECIAL FEATURE tail to tail
text tai-to-tail arrangement with C1S
STRUCTURE 12.24 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2526 - 705 - 2013 23650384
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Endocrinepancreas    
Lymphoid/Immunespleen    
 thymus   highly
Reproductivemale systemprostate   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion plasma
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two short consensus repeats, sushi structure
  • two CUB domains, and CUB2 domain of C1R is a novel example for globular protein domains with marginal stability, high conformational flexibility, and proteolytic sensitivity
  • one EGF-like domain
  • two complement control protein (CCP) modules
  • a serine protease domain(see F13B, SRCP1)
  • mono polymer dimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine C1r
    Homologene
    FAMILY
  • serine protease/trypsin family
  • peptidase S1 family
  • CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • classical pathway of C3 activation
  • possessing a proteinase activity to C1S
  • is a modular serine protease which is the autoactivating component of the C1 complex of the classical pathway of the complement system
  • modular C1R protein is the first protease activated in the classical complement pathway, a key component of innate immunity
  • serine protease, that initiates activation of the classical pathway of complement, which is a crucial innate defense mechanism against pathogens and altered-self cells
  • C1R specificity is well suited to its cleavage targets and efficient cleavage of C1S is achieved through both active site and exosite contributions
  • C1QA binds to the nucleolus in advanced apoptotic cells, and the C1QA-associated C1R/C1S proteases degrade nucleolar proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing after activation in the C terminus
  • complexing with one C1Q and two C1S
  • C1, the first component of the complement system, is a Ca(2+)-dependent heteropentamer complex of C1QA and two modular serine proteases, C1R and C1S
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • autocatalytic protease initiating the formation of an heterodimer active on C1Q
  • C1R both autoactivates and subsequently cleaves and activates C1S
  • C1QA recruits C1R/C1S to specific structures in dead cells, leading to cellular antigen degradation
  • cell & other
    REGULATION
    activated by C1q bound to the immune complex
    inhibited by the C1 inhibitor (SERPING1)
    ASSOCIATED DISORDERS
    corresponding disease(s) C1R , EDS8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in sera from patients with Joint hypermobility syndrome (JHS)
    constitutional       loss of function
    cause systemic lupus erythematosus
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS