RBCC Red Blood Cell Collection

C1S_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: C1S
Protein names and data: C1S_HUMAN , Complement C1s subcomponent; 3.4.21.42 , C1 esterase; Complement component 1 subcomponent s; Complement C1s subcomponent heavy chain; Complement C1s subcomponent light chain; Flags: Precursor Lenght: 688 a.a.
Mass: 76684 Da
fasta formatted sequence
Function: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4.
Catalytic activity: Cleavage of Arg-|-Ala bond in complement component C4 to form C4a and C4b, and Lys(or Arg)-|-Lys bond in complement component C2 to form C2a and C2b: the 'classical' pathway C3 convertase.
Disease: ( OMIM: 120580 613783 ) Complement component C1s deficiency (C1SD) [MIM:613783]: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

119 - 119 R -> H (in dbSNP:rs12146727). VAR_033643 12146727
327 - 327 V -> L (in dbSNP:rs2239170). VAR_033644 2239170
383 - 383 R -> H (in dbSNP:rs20573). VAR_014565 20573

Database cross-references

UniProt: P09871
Ensembl: ENST00000328916
Ensembl: ENST00000360817
Ensembl: ENST00000406697
Ensembl: ENST00000594877
Ensembl: ENST00000595575
Ensembl: ENST00000600933
MIM: 120580
MIM: 613783
neXtProt: NX_P09871
Antibodypedia: P09871 (may not find the protein thus also not any antibody)
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