RBCC Red Blood Cell Collection

CO9_HUMAN

Source: PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: C9
Protein names and data: CO9_HUMAN , Complement component C9; Complement component C9a; Complement component C9b; Flags: Precursor Lenght: 559 a.a.
Mass: 63173 Da
fasta formatted sequence
Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC.
Disease: ( OMIM: 120940 613825 ) Complement component 9 deficiency (C9D) [MIM:613825]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location: Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore.
Tissue specificity: Plasma.

Genetic variants

5 - 5 R -> W (in dbSNP:rs700233). VAR_022024 700233
119 - 119 C -> G (in C9D). VAR_012648
127 - 127 D -> Y (in dbSNP:rs696763). VAR_050481 696763
203 - 203 I -> V (in dbSNP:rs13361416). VAR_027651 13361416
279 - 279 T -> S (in dbSNP:rs34625111). VAR_033802 34625111
427 - 427 S -> T (in dbSNP:rs34421659). VAR_061503 34421659

Database cross-references

UniProt: P02748
Ensembl: ENST00000263408
MIM: 120940
MIM: 613825
neXtProt: NX_P02748
Antibodypedia: P02748 (may not find the protein thus also not any antibody)
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