C1R_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: C1R
Protein names and data: C1R_HUMAN , Complement C1r subcomponent; 3.4.21.41 , Complement component 1 subcomponent r; Complement C1r subcomponent heavy chain; Complement C1r subcomponent light chain; Flags: Precursor Lenght: 705 a.a.
Mass: 80119 Da
fasta formatted sequence
Function: C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.
Catalytic activity: Selective cleavage of Lys(or Arg)-|-Ile bond in complement subcomponent C1s to form the active form of C1s (EC 3.4.21.42).

Genetic variants

Complement component C1r deficiency [MIM:216950] leads to the failure of the classical complement system activation pathway (C1 deficiency). Individuals with C1 deficiency are highly susceptible to infections by microorganisms and have greater risk in developing autoimmune diseases such as systemic lupus erythematosus (SLE).

Database cross-references

UniProt: P00736
Ensembl: ENST00000290575
MIM: 216950
MIM: 613785
neXtProt: NX_P00736
Antibodypedia: P00736 (may not find the protein thus also not any antibody)
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